FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY # Colorectal cancer, hereditary nonpolyposis # Meckel syndrome, type 1 #249000
|
|
- Jeffry Bradley
- 5 years ago
- Views:
Transcription
1 Supplementary Table 1 A randomly selected subset of 100 record pairs crossreferenced by the curators. To be sure the 7,000 cross referenced records in fact were pairs of highly overlapping phenotypes, we manually cuated a random subset of 100 record pairs. This investigation shows that 94 of the record pairs had a high degree of phenotypic overlap. 94 our of 100 record pairs are true positives (TP) (i.e., record pairs cross-referenced because of a high degree of phenotypic overlap. 6 record pairs were false positives (FP) (i.e., record pairs that were cross-referenced for other reasons than a high degree of phenotypic overlap). Based on this investigation we concluded that the full set of 7,000 pairs could be used as a benchmarking reference for the phenotype similarity score. In the table we have included a comment stating why there is a phenotypic overlap. If the text regarding the overlap is very clear, or the overlap is obvious, we have not included a reference to Pubmed, but simply stated as the reference. If the overlap is not obvious, or the statements in were ambiguous, we referenced one or more articles describing the phenotypic overlap. Disease ( ID) Disease (OMIN ID) Comment Pubmed ID Walker-Warburg Muscular, congenital, mental retardation included # Muir-Torre # Bardet-Biedl # Achalasia-Addisonianism- Alacrima # Knobloch # Blood group, Froese # Granulomatous disease, cytochrome b-positive # Glaucoma 1, open angle, A # FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY # Colorectal cancer, hereditary nonpolyposis # Meckel, type 1 # Addison disease and cerebral sclerosis # Knobloch, type II % Blood group, Diego system # Granulomatous disease, cytochrome b-negative # Glaucoma 1, open angle, C % and loci of Muscular and mental retardaion TP: Muir-Torre is a subtype of Colorectal cancer, hereditary nonpolyposis TP: cystic kidney dysplasia and polydactyly occurs in both s TP: The association of adrenal and neurologic disease in # is similar to that in # and loci of Knobloch TP: Blood group Froese is part of the Diego system. Same molecular basis. Antigen polymorphism is based on a change in the SLC4A1 gene and loci of Granulomatous disease Glaucoma Reis-Bucklers Corneal Thiel-Behnke Corneal
2 # % and loci of Corneal Hypophosphatemic rickets # Mullerian Aplasia # Situs invertus viscerum # Hypertension with brachydactyly % Primary lateral sclerosis # Cataract, nonnuclear congenital % Epidermolysis bullosa dystrophica # Rett # FG including partial agenesis of corpus callosum % Medullary cystic kidney disease 1 % Dent disease 1 (Nephrolithiasis, hypercalciuria) # Maturity-onset diabetes of the young 1 # Primary ciliary dyskinesia # Brachydactyly, type E # Spastic paralysis # Cataract, embryonic nuclear # Epidermolysis bullosa simplex # Incontinentia pigmenti # Corpus callosum, partial agenesis # Polycystic kidney disease # TP: Hypophosphatemic rickets is a form of hypercalciuric nephrolithiasis, Dent disease complex TP: Mullerian Aplasia like MODY1 is characterized by frequent complications of diabetic nature including effects on the kidneys. Both conditions caused by mutations in transcription factors influencing e.g. insulin transcription TP: Two associated diseases making up Kartagener # TP: Two forms and loci of brachydactyly and hypertension TP: lateral sclerosis and spastic paralysis are allelic disorders with overlapping phenotypes but associated with same loci and loci of Epidermolysis bullosa TP: Some times Rett co-occurs with incontinentia pigmenti TP: Phenotypically overlapping diseases TP: Two different form and loci of cystic kidney disease Nanophthalmos 1 Nanophthalmos 2 % # Nanophthalmos Spondyloepimetaphyseal Spondyloepimetaphyseal dysplasia with multiple dysplasia, sponastrime and loci of dislocations % type Spondyloepimetaphyseal % dysplasia Noncompaction of left Noncompaction of left
3 ventricular myocardium, 1 # Periodic paralysis, potassium-sensitive # Craniosynostosis, midfacial hypoplasia and foot abnormalies # Preeclampsia/eclampsia 3 % Gastric cancer # Colorectal cancer # Moyamoya disease 3 % disease 6 # Premature ovarian failure 1 % Pseudohypoaldosteronism, type 1 # Specific granule deficiency # Osteosarcoma # Ichthyosis, lamellar 1 # von Hippel-Lindau # Arthrogryposis, type 5 % Dementia with spastic ataxia # ventricular myocardium, 2 % Hypokalemic periodic paralysis # Apert # Preeclampsia/eclampsia 1 % Helicobacter pylori infection # Endometrial cancer # Moyamoya disease 1 % disease 1B # Addison disease % Pseudohypoaldosteronism, type II # Chediak-Higashi # Chondrosarcoma # Ichthyosis, lamellar 2 # Pheochromocytoma # Arthrogryposis, type 2B # Creutzfeldt-Jakob disease # Noncompaction of left ventricular myocardium and loci of periodic paralysis and loci of craniosynostosis and loci of Preeclampsia/eclampsia TP: Helicobacter pylori infection is an established risk factor of gastric cancer, however gastric cancer occurs in only a very small proportion of people infected with the organism TP: Endometrial cancer is often co-occurring with colorectal cancer Moyamoya disease and loci of Charcot-Marie- Tooth disease TP: Premature ovarian failure occasionally occur in patients with Addison disease and loci of Pseudohypoaldosteronism TP: Both disorders characterized by severe defensin deficiency and loci of sarcoma and loci of Ichthyosis TP: Pheochromocytomas most commonly occur as part of several s including von Hippel- Lindau and loci of Arthrogryposis TP: Overlapping phenotypes. Dementia and another form of ataxia
4 Coffin-Siris % Systemic lupus erythematosus 7 % Pancreatic carcinoma # Pseudovitamin D3 deficiency Rickets due to 25-hydroxylase deficiency # Ceroid lipofuscinosis, neuronal 6 # Thyrotoxic periodic paralysis # Pilomatrixoma # Myopathy, myofibrillar, desmin-related # Hyperthyroidism # disease dominant intermediate D # Glioma of brain # Congenital alopecia # Hypomagnesemia 2 # Biotinidase deficiency # Systemic lupus erythematosus # Peutz-Jeghers # Vitamin D-dependent Rickets type 1 Ceroid lipofuscinosis, neuronal 3 # Hashimoto thyroiditis % Rubinstein-Taybi # Myopathy, myofibrillar, myotilin-related # Hypothyroidism # disease dominant intermediate A % Cowden disease # Omenn # Hypomagnesemia with secondary hypocalcemia # is part of the clinical synopsis for Creutzfeldt- Jakob disease. TP: Case report identifying an association between the two diseases TP: Different loci of Systemic lupus erythematosus TP: Increased risk of pancreatic cancer in patients with Peutz- Jeghers and loci of Vitamin D- dependent Rickets and loci of Ceroid lipofuscinosis, neuronal TP: Two phenotypically overlapping diseases TP: Occurrence of pilomatrixomas in Rubinstein-Taybi and loci of Myopathy FP: Both conditions can be caused by mutations in TSHR, but clinical phenotypes have little overlap and loci of Charcot-Marie- Tooth disease FP: From abstract, the patient did not show any of the clinical signs of Cowden disease. TP: Two sisters with congenital alopecia # Alopecia is highly frequent in Omenn and loci of Hypomagnesemia Craniosynostosis, Type 1 Greig TP: Craniosynostosis is
5 % cephalopolysyndactyly # Chondrodysplasia punctata 2 # Pancreatic insufficiency and bone marrow dysfunction # Muscular, Type 1 F % Attention deficithyperactivity disorder 2 % Albright hereditary osteo # Major affective disorder 1 % Malignant hyperthermia 1 # Cataract, anterior polar 2 % Prostate cancer aggressiveness QTL % Parkinson disease 9 % Hypertension # Epilepsy, with mental retardation. % Asphyxiating thoracic % Muscular, Type 1 A # Attention deficithyperactivity disorder 1 % Major affective disorder % Major affective disorder 2 % Malignant hyperthermia 4 % Cataract, anterior polar 1 % Prostate cancer # Pallidopyramidal % Pseudohypoaldosteronism 1 # part of the clinical synopsis of Greig cephalopolysyndactyly, although craniosynostosis is described three times in the literature as NOT being part of Greig cephalopolysyndactyly , , TP: Several reports where Chondrodysplasia punctata and epilepsy/mental retardations are connected TP: Skeletal abnormalities part of both diseases and loci of Muscular Attention deficithyperactivity disorder FP: The link of the diseases are due to their mode of inheritance Major affective disorder Malignant hyperthermia anterior polar cataract Prostate cancer TP: clinical features similar to those of idiopathic Parkinson disease and Pallidopyramidal FP: Opposite clinical phenotypes. However, both conditions are caused by changed renal tubular Na+ absorption (hypertension: increased. PHA-1: decreased)
6 Spinocerebellar ataxia 2 # Amyloidosis corneal # Globoid cell leuko # Granunomatous disease, x-linked # Lymphedema-Distichiasis # Celiac disease susceptibility to 1 # GM2-gangliosidosis type II # Inflammatory bowel disease 2 % Episodic ataxia, type 1 # Brachydactyly, type A1 # Usher, type IIB % Craniofacial-deafnesshand # Major depressive disorder # Waardenburg type IIA # Spinocerebellar ataxia 6 # Amyloidosis V # Metachromatic leuko # Duchenne muscular # Lymphedema, hereditary II # Celiac disease susceptibility to 3 # Gaucher disease type 1 # Inflammatory bowel disease 1 # Episodic ataxia, type 2 # Brachydactyly, type A1, B % Usher, type IIA # Waardenburg, type 1 # Major depressive disorder 2 % Waardenburg type IIB % and loci of Spinocerebellar ataxia TP: Two forms and loci of amyloidosis TP: Two forms and loci of leuko FP: Case study. One patient had 3 x-linked disorders incl. Granunomatous disease and Duchenne muscular. Deletion of part of Xp21 TP: Allelic disorders with overlapping phenotypes include Lymphedema type II Celiac disease TP: Gaucher disease, a related disorder that involves glycosphingolipid storage in peripheral tissues but not in the central nervous system Inflammatory bowel disease and loci of Episodic ataxia Brachydactyly, type A1 and loci of Usher type II TP: Several overlapping clinical traits between the diseases. Major depressive disorder and loci of Waardenburg Orofacial cleft TP: Many phenotypically overlapping features Orofacial cleft 5 # Orofacial cleft 1 % Thanatophoric dysplasia Asphyxiating thoracic # % Night Blindness, congenital Aland Island eye disease TP: congenital stationary
7 type 1 # % night blindness and Aland Island eye disease could be considered as a single entity disease type 2A1 # Myopia 12 % Migraine, familial typical, 2 % Dyslexia, susceptibility to 1 # Chordoma % Granulomatous disease, cronic, x-linked # Ulcerative colitis # Velocardiofacial # Hair color 3 % Alopecia-mental retardation % Epilepsy, idiopathic generalized # Hereditary myopathy with early respiratory failure # Wolfram 1 # Pancreatic carcinoma # disease type 2A2 # Myopia 2 % Migraine with or without aura, 1 % Dyslexia, susceptibility to 8 % Tuberous sclerosis complex # Granulomatous disease, cronic, autosomal recessive # Inflammatory bowel disease 2 % Asperger 1 % Eye color 3 % Hair-brain # Epilepsy, grand mal seizures on awakening # Duchenne muscular # Wolfram 2 % Melanoma, cutaneous malignant % and loci of Charcot-Marie- Tooth disease and loci of Myopia and loci of Migraine and loci of Dyslexia TP: identified 3 reports of chordomas found in patients with tuberous sclerosis complex TP: Two forms and loci of Granulomatous disease and loci of inflammatory bowel disease TP: VCF is caused by mutation in TBX1. There is evidence for that TXB1 haploinsufficiens may cause psychiatric disorders like ASP-1, although based only on casuistic reports TP: Association study shows the two traits are significantly inherited together TP: Overlapping phenotypes; mental retardation and abnormal hair growth. and loci of epilepsy and loci of myopathy Wolfram TP: Several familial cancer s increase the risk of
8 Piebald trait # Glaucoma 1, open angle, A # Oral-facial-digital IX % Hydranencephaly, fowler type % Vitamin D-dependent rickets type II % Cholestasis, progressive familial intrahepatic 2 # Vohwinkel # Fanconi anemia # Glaucoma 1, open angle, J % Oral-facial-digital II % Fetal akinesia deformation sequence (FADS) % Vitamin D-dependent rickets type I # Cholestasis, progressive familial intrahepatic 1 # Vohwinkel with ichthyosis # pancreatic cancer TP: White forelock and patches leukoderma occur also in Fanconi anemia Glaucoma 1, open angle and loci of Oral-facialdigital TP: Case study, both diseases included and loci of Vitamin D- dependent rickets and loci of Cholestasis, progressive familial intrahepatic and loci of Vohwinkel
Information for You and Your Family
Information for You and Your Family What is Prevention? Cancer prevention is action taken to lower the chance of getting cancer. In 2017, more than 1.6 million people will be diagnosed with cancer in the
More informationReproducibility with zebrafish models of human health and disease
Reproducibility with zebrafish models of human health and disease Monte Westerfield, University of Oregon, Eugene, USA Sponsored by the Office of the Director National Institutes of Health, the National
More informationCHRONIC MYELOGENOUS LEUKEMIA
CHRONIC MYELOGENOUS LEUKEMIA SHUFFLING THE GENETIC DECK IN CML 9 9 (q+) 22 Ph (22q-) bcr bcr-abl abl Fusion protein causes cancer GLEEVEC AND BCR-ABL FUSION PROTEIN GENETIC MEDICINE A. Genetic diseases
More informationHow much do you know about illnesses or health problems for your parents, grandparents, brothers, sisters, and/or children? 1 A lot Some None at all
Family Health History Please answer each question as honestly as possible. There are no right or wrong answers to nay of the questions. It is important that you answer as many questions as you can. We
More informationReproductive Physiology Primordial Germ Cells Yolk Sac Sex Chromosomes Females Males Sex-Linked Traits
Reproductive Physiology Primordial Germ Cells - from Yolk Sac these migrate to fetus when it is 5 weeks old - these cells give rise to the gonads (ovaries for female, testes for male) first they form the
More informationpanel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders
NGS tests panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders UKGTN website lists 13 laboratories offering a total of 56 panel test UKGTN listed panel
More informationPREDICAGEN LLC REPORT
The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because
More informationGenomics and Genetics in Healthcare. By Mary Knutson, RN, MSN
Genomics and Genetics in Healthcare By Mary Knutson, RN, MSN Clinical Objectives Understand the importance of genomics to provide effective nursing care Integrate genetic knowledge and skills into nursing
More informationCUMULATIVE ILLNESS RATING SCALE (CIRS)
CUMULATIVE ILLNESS RATING SCALE (CIRS) The CIRS used in this protocol is designed to provide an assessment of recurrent or ongoing chronic comorbid conditions, classified by 14 organ systems. Using the
More informationGenetics and Developmental Disabilities. Stuart K. Shapira, MD, PhD. Pediatric Genetics Team
Genetics and Developmental Disabilities Stuart K. Shapira, MD, PhD Pediatric Genetics Team National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention The
More informationRenal Cystic Disease. Dr H Bierman
Renal Cystic Disease Dr H Bierman Objectives Be able to diagnose renal cystic disease Genetic / non-genetic Be able to describe patterns of various renal cystic disease on routine imaging studies Be able
More informationFABRY DISEASE 12/30/2012. Ataxia-Telangiectasia. Ophthalmologic Signs of Genetic Neurological Disease
Ophthalmologic Signs of Genetic Neurological Disease ES ROACH,MD. Ophthalmologic Signs of Genetic Neurological Disease Conjunctival lesions Corneal lesions Lesions of iris & lens Retinal vascular lesions
More informationQUESTION. Personal Behavior History. Donor Genetic History. Donor Medical History. Family Medical History PERSONAL BEHAVIOR HISTORY. Never N/A.
Donor 4576 Medical Profile S Personal Behavior History Donor Genetic History Donor Medical History Family Medical History PERSONAL BEHAVIOR HISTORY Current alcohol use: If yes, oz./week and type of alcohol:
More information23andMe Reports GENETIC HEALTH RISK REPORTS. Increased risk for breast and ovarian cancer. function
1 23andMe Reports GENETIC HEALTH RISK REPORTS BRCA1/BRCA2 Late-Onset Alzheimer's Disease Parkinson's Disease Age-Related Macular Degeneration Alpha-1 Antitrypsin Deficiency Celiac Disease G6PD Deficiency
More informationBROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.
More informationCANCER GENETICS PROVIDER SURVEY
Dear Participant, Previously you agreed to participate in an evaluation of an education program we developed for primary care providers on the topic of cancer genetics. This is an IRB-approved, CDCfunded
More informationClassifications of genetic disorders disorders
Classifications of genetic disorders Dr. Liqaa M. Sharifi Human diseases in general can roughly be classified in to: 1-Those that are genetically determined. 2-Those that are almost entirely environmentally
More informationTreatments that require prior authorization by NHS
Treatments that require prior authorization by NHS If you want to apply for the cost reimbursement covering your treatment in Poland please check if you need to apply before your medical travel. Please
More informationSachin Soni DNB Pediatrics
Sachin Soni DNB Pediatrics Vitamin D physiology Introduction Etiology Clinical feature Radiology Diagnosis Lab Treatment Source: -Fish, liver and oil, - Human milk (30-40 IU/L) - Exposure to sun light
More informationCoagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type)
Blood and Clotting Coagulation factor VII deficiency Elliptocytosis Hemophilia A (German Shepherd Dog, type 2) Pyruvate kinase deficiency (Labrador Retriever type) Thrombopathia (American Eskimo Dog type)
More informationResults for Farrah. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results
Canine HealthCheck Results for Farrah Farrah's demographic profile: Call Name: Farrah Registered Name: Amber Bear's She's All That Breed: Collie Sex: Female Age: 1 Owner: Registration #: DN44645703 Microchip/Tattoo:
More informationResults for Trendy. Explanation of Results
Canine HealthCheck Results for Trendy Trendy's genetic health profile: Trendy's appearance profile: Trendy is not at-risk for any of the diseases tested Trendy is a Female Trendy is not a carrier for any
More informationGenome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 131 disease or trait variations are found in this genome
Report Date: August 2, 215 Software Annotation Version: 8 Genome Summary Name: Greg Mendel Genome ID: genome_greg_mendel_dad Sequencing Provider: 23andMe Sequencing Type: Genotyping SNP Array Sequencing
More informationSouthwest Service Life Insurance Company
Southwest Service Life Insurance Company UNDERWRITING GUIDE 2/2012 95587v1Proof.indd 1 95587v1Proof.indd 2 95587v1Proof.indd 3 Acne A A A ADD A A A Addison s Disease D A D AIDS, ARC, HIV Infection D D
More informationSEX-LINKED INHERITANCE. Dr Rasime Kalkan
SEX-LINKED INHERITANCE Dr Rasime Kalkan Human Karyotype Picture of Human Chromosomes 22 Autosomes and 2 Sex Chromosomes Autosomal vs. Sex-Linked Traits can be either: Autosomal: traits (genes) are located
More informationPedigree. Tracking Genetic Traits: How it s done!
Pedigree Tracking Genetic Traits: How it s done! REVIEW Many traits in humans are controlled by genes. Some of these traits are common features like eye color, straight or curly hair, baldness, attached
More informationUnifactorial or Single Gene Disorders. Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital
Unifactorial or Single Gene Disorders Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital Training Course in Sexual and Reproductive Health Research Geneva 2011 Single
More informationMedical Conditions Resulting in High Probability of Developmental Delay and DSCC Screening Information
Jame5. L.Jma5, ~reuiry Medical Conditions Medical Conditions Resulting in High Probability of Developmental Delay and DSCC Screening Information I Not Listed later Children with medical conditions which
More informationGenetic Diseases. SCPA202: Basic Pathology
Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities
More informationResults for Dar. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results
Canine HealthCheck Results for Dar Dar's demographic profile: Call Name: Dar Registered Name: Newman's Allendar of Lost Acres Breed: Collie Sex: Male Age: 0 Owner: Registration #: DN47650805 Microchip/Tattoo:
More informationAll diseases on Foresight
All diseases on Foresight Disease 11-Beta-Hydroxylase- Deficient Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl- CoA Lyase Deficiency
More informationExpert Interview: Inherited Susceptibility to Cancer with Dr. Nicoleta Voian
Expert Interview: Inherited Susceptibility to Cancer with Dr. Nicoleta Voian ANNOUNCER OPEN: Welcome to CME on ReachMD. This segment, entitled Inherited Susceptibility to Cancer: What Do Primary Care Providers
More informationCilioPathy panel. 3-Jul-2018 (102 genen) Centrum voor Medische Genetica Gent. versie. OMIM gene ID
versie 3-Jul-2018 (102 genen) CilioPathy panel Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern AHI1 608894 Joubert
More informationAtrophy. Dystrophy. II. practical training 2 rd year Dentistry. Lucie Tučková
Atrophy. Dystrophy. II. practical training 2 rd year Dentistry Lucie Tučková Atrophy Decrease in size of the cell or organ Reduction in cell size and/or cell number, or both Atrophic cells may have diminished
More informationList of Qualifying Conditions
List of Qualifying Conditions Cancer Conditions 1) Adrenal cancer 2) Bladder cancer 3) Bone cancer all forms 4) Brain cancer 5) Breast cancer 6) Cervical cancer 7) Colon cancer 8) Colorectal cancer 9)
More informationOriginal Policy Date
MP 2.04.76 Genetic Counseling Medical Policy Section Medicine Issue 12:2013 Original Policy Date 12:2013 Last Review Status/Date Created Local Policy/ 12:2013 Return to Medical Policy Index Disclaimer
More informationESRD Dialysis Prevalence - One Year Statistics
Age Group IL Other Total 00-04 12 1 13 05-09 5 2 7 10-14 15 1 16 15-19 55 2 57 20-24 170 10 180 25-29 269 14 283 30-34 381 9 390 35-39 583 14 597 40-44 871 20 891 45-49 1,119 20 1,139 50-54 1,505 35 1,540
More informationA Lawyer s Perspective on Genetic Screening Performed by Cryobanks
A Lawyer s Perspective on Genetic Screening Performed by Cryobanks As a lawyer practicing in the area of sperm bank litigation, I have, unfortunately, represented too many couples that conceived a child
More informationMedical Mental Health Reference Data. Florida Safe Families Network FSFN. May 12, 2017 Page 1 FSFN. Medical Mental Health. Page: Tab Name: Field Name:
Mental Health Profile Alcohol, Drugs, Marijuana, Solvents Frequency Daily Isolated Known Use / Unknown Frequency Occasional/Monthly Use Weekly Medical History Condition Type Dental Medical Mental Medical
More informationGeneHealth BreastGene_New qxp_Layout 1 21/02/ :42 Page 3 BreastGene GeneHealth UK
GeneHealth BreastGene_New 8.2.17.qxp_Layout 1 21/02/2017 16:42 Page 3 BreastGene GeneHealth UK BreastGene What is hereditary breast cancer? Breast cancer is the most common cancer in the UK. Unfortunately
More informationCHRONIC TREATMENT GUIDELINES
CHRONIC TREATMENT GUIDELINES REGISTRATION OF CHRONIC CONDITIONS You can only access benefits for chronic medication, as listed below, if your prescribing/treating doctor or pharmacist registers your chronic
More informationMEDICAL HISTORY. Previous Nephrologist. Medication taken Insulin Oral Both. Who manages your diabetes? Blindness Yes No Hearing Problems Yes No
MEDICAL HISTORY Please mark YES or NO and fill in appropriate blanks as needed Chronic Yes No If yes, year diagnosed Previous Nephrologist Transplant Yes No If yes, date Donor type Living Deceased Related
More informationBeyond Mendel s Laws of Inheritance
Beyond Mendel s Laws of Inheritance 2006-2007 Extending Mendelian genetics Mendel worked with a simple system peas are genetically simple most traits are controlled by a single gene each gene has only
More informationRenal Tubular Acidosis
1 Renal Tubular Acidosis Mohammad Tariq Ibrahim 6 th Grade Diyala College Of Medicine supervisor DR. Sabah Almaamoory 2 *Renal Tubular Acidosis:- RTA:- is a disease state characterized by a normal anion
More informationResults for Diva. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results
Canine HealthCheck Results for Diva Diva's demographic profile: Call Name: Diva Registered Name: Rus Pekos Diva Chudo Prirody Breed: Golden Retriever Sex: Female Approx. DOB: 2016-07 Owner: Registration
More informationProgram SPECIFICATION FOR PhD Degree in Human Genetics. Code: A- Basic information. B- Professional Information
Program SPECIFICATION FOR PhD Degree in Human Genetics Code: 73800 University: Alexandria Faculty: Medical Research Institute Program Specification A- Basic information - Program title : PhD in Human Genetics
More informationGenome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 106 disease or trait variations are found in this genome
Report Date: August 24, 2016 Software Annotation Version: 8 Genome Summary Name: (unknown) Genome ID: GFG_filtered_unphased_genotypes Sequencing Provider: (unknown) Sequencing Type: (unknown) Sequencing
More informationArchived Reports Summary
Archived Reports Summary 1 Archived Reports Summary This summary provides information that may be helpful when viewing your archived reports. The information in this document and in your reports is intended
More informationStandard Therapies - Cord Blood
A healthy future is in your hands 01 02 03 04 Standard Therapies - Cord Blood Clinical Trials with Blood - Forming Stem Cells Gene Therapy for Inherited Disorders Using Blood - Forming Stem Cells Clinical
More informationFigure 1. Comparison of Cancer Incidence Rates 1 of Individual Census Tracts with Louisiana, All Cancers Combined,
Figure. Comparison of Cancer Incidence Rates of Individual Census Tracts with Louisiana, All Cancers Combined, 006-04 The rate is statistically significantly lower than Louisiana The rate is not statistically
More informationGenetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test
Genetic Disorders PART ONE: Detecting Genetic Disorders Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test Amniocentesis A technique for determining genetic abnormalities in a fetus
More informationResults for Ceaser. Em Locus (Melanistic Mask) Explanation of Results
Results for Ceaser Ceaser's demographic profile:!"## $"%&'!&"(&) *&+,(-&)&. $"%&' /000000 1)&&.' 12##.3+ /&0' 4"#& 566)307 891' :;;?!"#$%&'''''''!"#$%&'(&$)* +, -./4567 0$1')12$345(&&)),!"# $% &'&((((
More informationClinical Cancer Genetics
Clinical Cancer Genetics Lisen Axell, MS, CGC University of Colorado Cancer Center Individuals with cancer Making surgical decisions (lump vs. mast) Making treatment decisions (XRT) Concerns for additional
More information6/8/17. Genetics 101. Professor, College of Medicine. President & Chief Medical Officer. Hereditary Breast and Ovarian Cancer 2017
Genetics 101 Hereditary Breast and Ovarian Cancer 2017 Rebecca Sutphen, MD, FACMG Professor, College of Medicine President & Chief Medical Officer INVASIVE CANCER GENETICALLY ALTERED CELL HYPERPLASIA DYSPLASIA
More informationWhat s New in Newborn Screening?
What s New in Newborn Screening? Funded by: Illinois Department of Public Health Information on Newborn Screening Newborn screening in Illinois is mandated and administered by the Illinois Department of
More information14 2 Human Chromosomes
14-2 Human Chromosomes 1 of 25 Sex-Linked Genes Sex-Linked Genes The X chromosome and the Y chromosomes determine sex. Genes located on these chromosomes are called sex-linked genes. More than 100 sex-linked
More informationPRICELIST ANALYSES Last Update:
PRICELIST ANALYSES Last Update: 2016-05-27 DOG Genotype Blood H255 Genotype dog 12 MS (currently used for ASCA, ASCD) 20 39,15 H256 Genotype dog 22 MS (ISAG-Markerset) 20 41,65 H257 Genotype dog 22 MS
More informationIndex. derm.theclinics.com. Note: Page numbers of article titles are in boldface type.
Note: Page numbers of article titles are in boldface type. A Adhesion and migration, the diverse functions of the laminin a3 subunit, 79 87 Alopecia in epidermolysis bullosa, 165 169 Amblyopia and inherited
More informationUsing 3-Digit ICD-9-CM Codes with the Elixhauser Comorbidity Index
Congestive Heart Failure 398.91 Rheumatic heart failure (congestive) 398 Other rheumatic heart disease 402.01, 402.11, 402.91 402 Hypertensive heart disease 404.01, 404.03, 404.11, 404.13, 404.91, 404.93
More informationHuman inherited diseases
Human inherited diseases A genetic disorder that is caused by abnormality in an individual's DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of a whole
More informationHuman Genetic Mutations
Human Genetic Mutations 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations What are chromosomes? Humans have 23 pairs of chromosomes, with one chromosome from each parent. The chromosomes
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) Medical Benefit Effective Date: 01/01/17 Next Review Date: 11/18 Preauthorization Yes Review Dates: 01/11, 01/12, 09/12, 05/13, 09/13, 09/14, 09/15,
More informationGaucher disease 3/22/2009. Mendelian pedigree patterns. Autosomal-dominant inheritance
Mendelian pedigree patterns Autosomal-dominant inheritance Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Y-linked Examples of AD inheritance Autosomal-recessive inheritance
More information2014 /2018 ERA-EDTA PRD Code ERA-EDTA PRD code 1996 ERA-EDTA. SNOMED CT concept identifier Convert ERA-EDTA Primary Renal Diagnosis (PRD) Term
Convert Primary Renal Diagnosis (PRD) Term ERA_EDTA diagnosis 3380 901.1.C 90 Acute kidney injury Acute Renal Failure 14669001 Miscellaneous renal disorders 3398 901.2.C 90 Acute kidney injury due to hypovolaemia
More informationHEALTH SERVICES POLICY & PROCEDURE MANUAL
PAGE 1 of 6 PURPOSE To establish basic understanding of indications and contraindications for transplantation of various organs. POLICY The N.C. Department of Correction, Division of Prisons, Health Services
More informationERA-EDTA ERA-EDTA Primary Renal Diagnosis (PRD) Term ERA-EDTA PRD classification SNOMED CT PRD Code 1/1/2015
1003 Adult nephrotic syndrome - no histology Immunological Glomerulopathy 52254009 1019 Nephrotic syndrome of childhood - steroid sensitive - no histology Immunological Glomerulopathy 445119005 1026 Congenital
More informationGeorgia Department of Human Services BIRTH FAMILY BACKGROUND INFORMATION FOR CHILD. Name of Child Date of Birth Sex Race Hispanic Ethnicity Yes No
Georgia Department of Human Services BIRTH FAMILY BACKGROUND INFORMATION FOR CHILD Name of Child Date of Birth Sex Race Hispanic Ethnicity Yes No Legal County (DHS Child) Resident County (Non-DHS Child)
More informationGenetics in Nephrology. Saeid Morovvati Associate Professor of BMSU Director of Biogene Laboratory
Genetics in Nephrology Saeid Morovvati Associate Professor of BMSU Director of Biogene Laboratory Genetics in: A. Congenital Anomalies of the Kidney and Urinary Tract B. Cystic Diseases of the Kidney C.
More informationICD- 9 to ICD- 10 Transition PT SERVICES. October 1, 2015
ICD- 9 to ICD- 10 Transition PT SERVICES October 1, 2015 ICD- 9 ICD- 10 Description (ICD- 10) 1919 C71.9 Malignant neoplasm of brain, unspecified 1940 C74.90 Malignant neoplasm of unspecified part of unspecified
More informationWhole exome sequencing Gene package Hereditary Congenital Defects version 3.1,
Whole Exome Sequencing Gene package Hereditary Congenital Defects, version 3.1, 22 11 2017 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired
More information- Aya Alomoush. - Talal Al-Zabin. - Belal Azab. 1 P a g e
24 - Aya Alomoush - Talal Al-Zabin - Belal Azab 1 P a g e 1) Features of autosomal dominant inheritance: A) Vertical transmission: direct transmission from grandparent to parent to child without skipping
More informationHEREDITY & CANCER: Breast cancer as a model
HEREDITY & CANCER: Breast cancer as a model Pierre O. Chappuis, MD Divisions of Oncology and Medical Genetics University Hospitals of Geneva, Switzerland Genetics, Cancer and Heredity Cancers are genetic
More information10/21/ New Release, Quest Diagnostics Nichols Institute, Valencia
NEW TESTS Please Note: Not all test codes assigned to each assay are listed in the table of contents. Please refer to the complete listing on the page numbers indicated. Test Code Test Name Effective Date
More informationPhenotype analysis in humans using OMIM
Outline: 1) Introduction to OMIM 2) Phenotype similarity map 3) Exercises Phenotype analysis in humans using OMIM Rosario M. Piro Molecular Biotechnology Center University of Torino, Italy 1 MBC, Torino
More informationEgg Donor screening Questionnaire. How many years did you complete in high school?
Please tick ( ) and complete ALL questions. YOU YOUR PARTNER Full name Forename Surname Forename Surname Date of birth day / month / year day / month / year Address Height : Weight: Ethnicity Home Tel:
More informationTable of Contents Section I Pituitary and Hypothalamus 1. Development of the Pituitary Gland 2. Divisions of the Pituitary Gland and Relationship to
Table of Contents Section I Pituitary and Hypothalamus 1. Development of the Pituitary Gland 2. Divisions of the Pituitary Gland and Relationship to the Hypothalamus 3. Blood Supply of the Pituitary Gland
More informationBowelGene. How do I know if I am at risk? Families with hereditary bowel cancer generally show one or more of the following clues:
BowelGene BowelGene What is hereditary bowel cancer? Bowel cancer (also known as colorectal cancer) is the fourth most common cancer in the UK. Unfortunately 1 in 19 women and 1 in 14 men will develop
More informationGenetics Questions: There are 15 questions in total. The answers can be found on the accompanying document
Page 1 Genetics Questions: These questions are aimed at medical and allied health professionals and they are designed to show where genetics has a role in clinical practice. There are 15 questions in total
More informationPremium Specialty: Pediatrics
Premium Specialty: Pediatrics Credentialed Specialties include: Adolescent Medicine, Pediatric Adolescent, and Pediatrics This document is designed to be used in conjunction with the UnitedHealth Premium
More informationSTEPHEN P. NONN OFFICE OF THE CORONER MADISON COUNTY, ILLINOIS 157 MAIN STREET SUITE 354 EDWARDSVILLE, IL
MAIN OFFICE: (618) 692-7478 MORGUE: (618) 296-4525 FAX: (618) 692-6042 FAX: (618) 692-9304 STEPHEN P. NONN OFFICE OF THE CORONER MADISON COUNTY, ILLINOIS 157 MAIN STREET SUITE 354 EDWARDSVILLE, IL. 62025-1962
More informationUtilization of the MiSeq in a clinical lab. Tony Krentz, PhD PreventionGenetics
Utilization of the MiSeq in a clinical lab Tony Krentz, PhD PreventionGenetics PreventionGenetics Founded in 2004 in Marshfield, Wisconsin by James Weber ~90 employees Largest test menu in US Vision: Disease
More informationPediatric metabolic bone diseases
Pediatric metabolic bone diseases Classification and overview of clinical and radiological findings M. Mearadji International Foundation for Pediatric Imaging Aid www.ifpia.com Introduction Metabolic bone
More informationHereditary Breast and Ovarian Cancer Rebecca Sutphen, MD, FACMG
Hereditary Breast and Ovarian Cancer 2015 Rebecca Sutphen, MD, FACMG Among a consecutive series of 11,159 women requesting BRCA testing over one year, 3874 responded to a mailed survey. Most respondents
More informationOver. Signature of Patient/Parent/Guardian: Date: / / Date: / / Patient s Name: For ADULT Patients : Employer: Address: Occupation:
Date: / / Patient s Name: Address: Preferred Home: ( ) - Work: ( ) - Cell: ( ) - Text Message Reminders : Yes No Social Security #: Date of Birth: - - / / For ADULT Patients : Employer: Occupation: Spouse
More informationDysmorphology And The Paediatric Eye. Jill Clayton-Smith Manchester Centre For Genomic Medicine
Dysmorphology And The Paediatric Eye Jill Clayton-Smith Manchester Centre For Genomic Medicine Why Make A Syndrome Diagnosis? Why did it happen? What does the future hold? How can you treat/manage it?
More informationGenetics and Genomics in Endocrinology
Genetics and Genomics in Endocrinology Dr. Peter Igaz MD MSc PhD 2 nd Department of Medicine Faculty of Medicine Semmelweis University Genetics-based endocrine diseases I. Monogenic diseases: Multiple
More informationCancer Genomics 101. BCCCP 2015 Annual Meeting
Cancer Genomics 101 BCCCP 2015 Annual Meeting Objectives Identify red flags in a person s personal and family medical history that indicate a potential inherited susceptibility to cancer Develop a systematic
More informationJ. Van Lier Ribbink, M.D., F.A.C.S. Center for Endocrine and Pancreas Surgery at Honor Health
J. Van Lier Ribbink, M.D., F.A.C.S. Center for Endocrine and Pancreas Surgery at Honor Health Patient Clinical Information Questionnaire 1.0 Date of Questionnaire Completion; / / 2.0 Patient Data 2.1 Name:
More informationAdvances in genetic diagnosis of neurological disorders
Acta Neurol Scand 2014: 129 (Suppl. 198): 20 25 DOI: 10.1111/ane.12232 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ACTA NEUROLOGICA SCANDINAVICA Review Article Advances in genetic diagnosis
More informationFRAMBU. Resource Centre for Rare Disorders
FRAMBU Resource Centre for Rare Disorders Frambu Resource Centre for Rare Disorders is one of nine centres working with rare disorders in Norway. All nine centres are part of the Norwegian National Advisory
More informationTo Be Your Local Expert A General Pediatrician s Story
To Be Your Local Expert A General Pediatrician s Story DDC Clinic mission: To enhance the quality of life for people with special needs caused by rare genetic disorders What Does It Take to Be Your Local
More informationMedical Policy Preimplantation Genetic Testing
Medical Policy Preimplantation Genetic Testing Document Number: 004 Commercial* and Connector/ Qualified Health Plans Authorization required X No notification or authorization Not covered * Not all commercial
More informationFamilial and Hereditary Colon Cancer
Familial and Hereditary Colon Cancer Aasma Shaukat, MD, MPH, FACG, FASGE, FACP GI Section Chief, Minneapolis VAMC Associate Professor, Division of Gastroenterology, Department of Medicine, University of
More informationHuman Genetics Notes:
Human Genetics Notes: Human Chromosomes Cell biologists analyze chromosomes by looking at. Cells are during mitosis. Scientists then cut out the chromosomes from the and group them together in pairs. A
More informationEvolve180 / Ideal Northwest Health Profile
Evolve180 / Ideal Northwest Health Profile ABOUT YOU First Name: Last Name: Address: City: State: Zip: Phone: Email: Date of Birth: Age: Height: Occupation: How did you find out about our program? Marital
More informationGenetic Risk Assessment for Cancer
Genetic Risk Assessment for Cancer Jennifer Siettmann, MS CGC Certified Genetic Counselor Banner MD Anderson Cancer Center Objectives Describe the role of genetic counseling and genetic testing in patient
More informationIS THROAT CANCER HEREDITARY
05 March, 2018 IS THROAT CANCER HEREDITARY Document Filetype: PDF 245.96 KB 0 IS THROAT CANCER HEREDITARY Unfortunately, most of the signs and symptoms of esophageal cancer occur when the disease has already
More informationEVIDENCE-BASED VITAMIN AND MINERAL USAGE SUMMARY TABLE (APRIL 2002)
Acne Acrodermatitis Enteropathica Adrenal Support Age Related Cognitive Decline Alcoholism/Alcohol Withdrawal Alzheimer's Disease Amenorrhoea Anaemia Angina Anorexia Nervosa Anxiety Asthma Atherosclerosis
More information