Disorders

This page contains details of Online Mendelian Inheritance in Man (OMIM) disorders.

These can be searched alphabetically below or please use the search bar on the top left of the page to find genes more generally through part of the gene name or other characteristics.

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A

Abacavir hypersensitivity, susceptibility to (3)- HLA-B

Abdominal obesity-metabolic syndrome 3, 615812 (3)- DYRK1B

Abetalipoproteinemia, 200100 (3)- MTTP

Acampomelic campomelic dysplasia, 114290 (3)- SOX9

Achondrogenesis, type II or hypochondrogenesis, 200610 (3)- COL2A1

Achondroplasia, 100800 (3)- FGFR3

Achromatopsia 2, 216900 (3)- CNGA3

Achromatopsia 3, 262300 (3)- CNGB3

Achromatopsia 4, 613856 (3)- GNAT2

Achromatopsia 6, 610024 (3)- PDE6H

Acrodermatitis enteropathica, 201100 (3)- SLC39A4

Acrodysostosis 1, with or without hormone resistance, 101800 (3)- PRKAR1A

Acrokeratosis verruciformis, 101900 (3)- ATP2A2

Acromicric dysplasia, 102370 (3)- FBN1

ACTH-independent macronodular adrenal hyperplasia, 219080 (3)- GNAS

Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)- ACADM

Adams-Oliver syndrome 5, 616028 (3)- NOTCH1

Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)- EGFR

Adenocarcinoma of lung, somatic, 211980 (3)- BRAF

Adenocarcinoma of lung, somatic, 211980 (3)- ERBB2

Adenoma, periampullary, somatic (3)- APC

Adenomas, multiple colorectal, 608456 (3)- MUTYH

Adenomatous polyposis coli, 175100 (3)- APC

Adenosine deaminase deficiency, partial, 102700 (3)- ADA

Adenylosuccinase deficiency, 103050 (3)- ADSL

Adrenal adenoma, somatic (3)- MEN1

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)- CYP11B1

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)- CYP21A2

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)- HSD3B2

Adrenal hypoplasia, congenital, 300200 (3)- NR0B1

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)- CYP11A1

Adrenocortical carcinoma, pediatric, 202300 (3)- TP53

Adrenocortical insufficiency, 612964 (3)- NR5A1

Adrenocortical tumor, somatic, (3)- PRKAR1A

Adrenocorticotropic hormone deficiency, 201400 (3)- TBX19

Adrenoleukodystrophy, 300100 (3)- ABCD1

Adrenomyeloneuropathy, adult, 300100 (3)- ABCD1

Adult i phenotype without cataract, 110800 (3)- GCNT2

Agammaglobulinemia, X-linked 1, 300755 (3)- BTK

Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)- TREX1

Alagille syndrome 1, 118450 (3)- JAG1

Aland Island eye disease, 300600 (3)- CACNA1F

Alazami syndrome, 615071 (3)- LARP7

Albinism, brown oculocutaneous, 203200 (3)- OCA2

Albinism, oculocutaneous, type IA, 203100 (3)- TYR

Albinism, oculocutaneous, type IB, 606952 (3)- TYR

Albinism, oculocutaneous, type II, 203200 (3)- OCA2

Albinism, oculocutaneous, type II, modifier of, 203200 (3)- MC1R

Aldosteronism, glucocorticoid-remediable, 103900 (3)- CYP11B1

Alopecia universalis, 203655 (3)- HR

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)- RAG1

Alport syndrome 1, X-linked, 301050 (3)- COL4A5

Alstrom syndrome, 203800 (3)- ALMS1

Alternating hemiplegia of childhood 1, 104290 (3)- ATP1A2

Alzheimer disease 1, familial, 104300 (3)- APP

Alzheimer disease, susceptibility to, 104300 (3)- HFE

Alzheimer disease, type 3, 607822 (3)- PSEN1

Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)- PSEN1

Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)- PSEN1

Alzheimer disease-2, 104310 (3)- APOE

Alzheimer disease-4, 606889 (3)- PSEN2

Amelogenesis imperfecta, type IA, 104530 (3)- LAMB3

Amyloidosis, 3 or more types, 105200 (3)- APOA1

Amyloidosis, hereditary, transthyretin-related, 105210 (3)- TTR

Amyotrophic lateral sclerosis 1, 105400 (3)- SOD1

Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)- TARDBP

Amyotrophic lateral sclerosis 12, 613435 (3)- OPTN

Amyotrophic lateral sclerosis 19, 615515 (3)- ERBB4

Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)- SETX

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)- FUS

Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 (3)- ATXN2

Analbuminemia, 616000 (3)- ALB

Analgesia from kappa-opioid receptor agonist, female-specific, 613098 (3)- MC1R

Andersen syndrome, 170390 (3)- KCNJ2

Androgen insensitivity, 300068 (3)- AR

Androgen insensitivity, partial, with or without breast cancer, 312300 (3)- AR

Angelman syndrome, 105830 (3)- UBE3A

Angioedema, hereditary, type III, 610618 (3)- F12

Angiofibroma, somatic (3)- MEN1

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)- COL4A1

Angiotensin I-converting enzyme, benign serum increase (3)- ACE

Aniridia, 106210 (3)- PAX6

Anterior segment anomalies with or without cataract, 602588 (3)- EYA1

Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)- PITX3

Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)- FOXE3

Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)- FOXC1

Anterior segment dysgenesis 4, 137600 (3)- PITX2

Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)- PAX6

Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)- CYP1B1

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)- POR

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)- FGFR2

Aortic aneurysm, familial thoracic 11, susceptibility to, 617349 (3)- FOXE3

Aortic aneurysm, familial thoracic 4, 132900 (3)- MYH11

Aortic aneurysm, familial thoracic 6, 611788 (3)- ACTA2

Aortic aneurysm, familial thoracic 7, 613780 (3)- MYLK

Aortic valve disease 1, 109730 (3)- NOTCH1

Apert syndrome, 101200 (3)- FGFR2

Aplastic anemia, 609135 (3)- NBN

Aplastic anemia, 609135 (3)- PRF1

Aplastic anemia, susceptibility to, 609135 (3)- SBDS

ApoA-I and apoC-III deficiency, combined, 618463 (3)- APOA1

Apparent mineralocorticoid excess, 218030 (3)- HSD11B2

Argininosuccinic aciduria, 207900 (3)- ASL

Aromatase deficiency, 613546 (3)- CYP19A1

Aromatase excess syndrome, 139300 (3)- CYP19A1

Arrhythmogenic right ventricular dysplasia 10, 610193 (3)- DSG2

Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)- DSC2

Arrhythmogenic right ventricular dysplasia 11, 610476 (3)- DSC2

Arrhythmogenic right ventricular dysplasia 12, 611528 (3)- JUP

Arrhythmogenic right ventricular dysplasia 2, 600996 (3)- RYR2

Arrhythmogenic right ventricular dysplasia 5, 604400 (3)- TMEM43

Arrhythmogenic right ventricular dysplasia 8, 607450 (3)- DSP

Arrhythmogenic right ventricular dysplasia 9, 609040 (3)- PKP2

Arterial calcification, generalized, of infancy, 2, 614473 (3)- ABCC6

Arteriovenous malformation of the brain, somatic, 108010 (3)- KRAS

Arts syndrome, 301835 (3)- PRPS1

Ataxia with isolated vitamin E deficiency, 277460 (3)- TTPA

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)- APTX

Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)- FLVCR1

Ataxia-telangiectasia, 208900 (3)- ATM

Athabaskan brainstem dysgenesis syndrome, 601536 (3)- HOXA1

Atherosclerosis, susceptibility to (3)- ESR1

Atrial fibrillation, familial, 10, 614022 (3)- SCN5A

Atrial fibrillation, familial, 12, 614050 (3)- ABCC9

Atrial fibrillation, familial, 13, 615377 (3)- SCN1B

Atrial fibrillation, familial, 16, 613120 (3)- SCN3B

Atrial fibrillation, familial, 17, 611819 (3)- SCN4B

Atrial fibrillation, familial, 3, 607554 (3)- KCNQ1

Atrial fibrillation, familial, 4, 611493 (3)- KCNE2

Atrial fibrillation, familial, 9, 613980 (3)- KCNJ2

Atrial septal defect 2, 607941 (3)- GATA4

Atrial septal defect 3, 614089 (3)- MYH6

Atrial septal defect 5, 612794 (3)- ACTC1

Atrial septal defect 7, with or without AV conduction defects, 108900 (3)- NKX2-5

Atrial septal defect 9, 614475 (3)- GATA6

Atrichia with papular lesions, 209500 (3)- HR

Atrioventricular septal defect 4, 614430 (3)- GATA4

Atrioventricular septal defect 5, 614474 (3)- GATA6

Auditory neuropathy, autosomal recessive, 1, 601071 (3)- OTOF

Autism susceptibility, X-linked 3, 300496 (3)- MECP2

Autoimmune lymphoproliferative syndrome, 601859 (3)- FAS

Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)- FAS

Autoimmune lymphoproliferative syndrome, type V, 616100 (3)- CTLA4

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)- AIRE

Autoimmune thyroid disease, susceptibility to, 3, 608175 (3)- TG

Avascular necrosis of the femoral head, 608805 (3)- COL2A1

Axenfeld-Rieger syndrome, type 1, 180500 (3)- PITX2

Axenfeld-Rieger syndrome, type 3, 602482 (3)- FOXC1

Ayme-Gripp syndrome, 601088 (3)- MAF

Site Statistics
No. of genes : 1133
No. of labs : 33
No. of tests : 1702

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Copyright © 2019 RCPA. All rights reserved.

16-Aug-2018
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