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

Aarskog-Scott syndrome, 305400 (3)- FGD1

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

ABCD syndrome, 600501 (3)- EDNRB

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

Abetalipoproteinemia, 200100 (3)- MTTP

Acampomelic campomelic dysplasia, 114290 (3)- SOX9

Achalasia-addisonianism-alacrimia syndrome, 231550 (3)- AAAS

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

Acid-labile subunit, deficiency of, 615961 (3)- IGFALS

Acrocallosal syndrome, 200990 (3)- KIF7

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

Acute myeloid leukemia, somatic, 601626 (3)- DNMT3A

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

Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)- ACADS

Adams-Oliver syndrome 2, 614219 (3)- DOCK6

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

Adenine phosphoribosyltransferase deficiency, 614723 (3)- APRT

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

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

Adenocarcinoma, colonic, somatic (3)- RAD54L

Adenoma, periampullary, somatic (3)- APC

Adenomas, multiple colorectal, 608456 (3)- MUTYH

Adenomatous polyposis coli, 175100 (3)- APC

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

Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)- PKLR

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

Advanced sleep-phase syndrome, familial, 2, 615224 (3)- CSNK1D

Afibrinogenemia, congenital, 202400 (3)- FGA

Afibrinogenemia, congenital, 202400 (3)- FGB

Afibrinogenemia, congenital, 202400 (3)- FGG

Agammaglobulinemia 1, 601495 (3)- IGHM

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

Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)- SLC12A6

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

Aicardi-Goutieres syndrome 2, 610181 (3)- RNASEH2B

Aicardi-Goutieres syndrome 3, 610329 (3)- RNASEH2C

Aicardi-Goutieres syndrome 4, 610333 (3)- RNASEH2A

Aicardi-Goutieres syndrome 5, 612952 (3)- SAMHD1

Aicardi-Goutieres syndrome 6, 615010 (3)- ADAR

AICA-ribosiduria due to ATIC deficiency, 608688 (3)- ATIC

AIDS, rapid progression to, 609423 (3)- IFNG

AIDS, resistance to, 609423 (3)- CXCL12

Alagille syndrome 1, 118450 (3)- JAG1

Alagille syndrome 2, 610205 (3)- NOTCH2

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

Alcohol dependence, susceptibility to, 103780 (3)- HTR2A

Alcohol sensitivity, acute, 610251 (3)- ALDH2

Aldosterone to renin ratio raised (3)- CYP11B2

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

Alexander disease, 203450 (3)- GFAP

Alkaptonuria, 203500 (3)- HGD

Allan-Herndon-Dudley syndrome, 300523 (3)- SLC16A2

Alopecia universalis, 203655 (3)- HR

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

Alpha-1-antichymotrypsin deficiency (3)- SERPINA3

Alpha-2-macroglobulin deficiency, 614036 (1)- A2M

Alpha-methylacetoacetic aciduria, 203750 (3)- ACAT1

Alpha-methylacyl-CoA racemase deficiency, 614307 (3)- AMACR

Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)- ATRX

Alpha-thalassemia/mental retardation syndrome, 301040 (3)- ATRX

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

Alport syndrome 2, autosomal recessive, 203780 (3)- COL4A3

Alport syndrome 3, autosomal dominant, 104200 (3)- COL4A3

Alstrom syndrome, 203800 (3)- ALMS1

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

Alternating hemiplegia of childhood 2, 614820 (3)- ATP1A3

Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)- FOXF1

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

Alzheimer disease, late-onset, susceptibility to, 104300 (3)- NOS3

Alzheimer disease, late-onset, susceptibility to, 104300 (3)- PLAU

Alzheimer disease, susceptibility to, 104300 (3)- A2M

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

Aminoacylase 1 deficiency, 609924 (3)- ACY1

AMP deaminase deficiency, erythrocytic, 612874 (3)- AMPD3

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

Amyloidosis, familial visceral, 105200 (3)- FGA

Amyloidosis, Finnish type, 105120 (3)- GSN

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 11, 612577 (3)- FIG4

Amyotrophic lateral sclerosis 12, 613435 (3)- OPTN

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)- VCP

Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)- UBQLN2

Amyotrophic lateral sclerosis 17, 614696 (3)- CHMP2B

Amyotrophic lateral sclerosis 18, 614808 (3)- PFN1

Amyotrophic lateral sclerosis 19, 615515 (3)- ERBB4

Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)- ALS2

Amyotrophic lateral sclerosis 21, 606070 (3)- MATR3

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

Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)- SPG11

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

Amyotrophic lateral sclerosis 8, 608627 (3)- VAPB

Amyotrophic lateral sclerosis 9, 611895 (3)- ANG

Amyotrophic lateral sclerosis, susceptibility to, 105400 (3)- DCTN1

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

Amyotrophic lateral sclerosis, susceptibility to, 25, 617921 (3)- KIF5A

Analbuminemia, 616000 (3)- ALB

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

Anauxetic dysplasia 1, 607095 (3)- RMRP

Andersen syndrome, 170390 (3)- KCNJ2

Androgen insensitivity, 300068 (3)- AR

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

Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)- NT5C3A

Anemia, hemolytic, Rh-null, regulator type, 268150 (3)- RHAG

Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)- SLC11A2

Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)- SPTB

Anemia, sideroblastic, 1, 300751 (3)- ALAS2

Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)- SLC25A38

Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)- GLRX5

Anemia, sideroblastic, with ataxia, 301310 (3)- ABCB7

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3)- GATA1

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

Anorexia nervosa, susceptibility to, 606788 (3)- HTR2A

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

Antisocial behavior, 300615 (3)- MAOA

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 aneurysm, familial thoracic 8, 615436 (3)- PRKG1

Aortic valve disease 1, 109730 (3)- NOTCH1

Aortic valve disease 2, 614823 (3)- SMAD6

Apert syndrome, 101200 (3)- FGFR2

Aphasia, primary progressive, 607485 (3)- GRN

Aplasia of lacrimal and salivary glands, 180920 (3)- FGF10

Aplastic anemia, 609135 (3)- NBN

Aplastic anemia, 609135 (3)- PRF1

Aplastic anemia, 609135 (3)- IFNG

Aplastic anemia, 614743 (3)- TERC

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

Apnea, postanesthetic, susceptibility to, due to BCHE deficiency, 617936 (3)- BCHE

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

Apolipoprotein A-II deficiency (3)- APOA2

Apolipoprotein C-III deficiency, 614028 (3)- APOC3

Apparent mineralocorticoid excess, 218030 (3)- HSD11B2

Argininemia, 207800 (3)- ARG1

Argininosuccinic aciduria, 207900 (3)- ASL

Aromatase deficiency, 613546 (3)- CYP19A1

Aromatase excess syndrome, 139300 (3)- CYP19A1

Aromatic L-amino acid decarboxylase deficiency, 608643 (3)- DDC

Arrhythmogenic right ventricular dysplasia 1, 107970 (3)- TGFB3

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

Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)- CTNNA3

Arterial calcification, generalized, of infancy, 1, 208000 (3)- ENPP1

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

Arterial tortuosity syndrome, 208050 (3)- SLC2A10

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

Arthrogryposis multiplex congenita, myogenic type, 618484 (3)- SYNE1

Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)- PPP3CA

Arthrogryposis, distal, type 1A, 108120 (3)- TPM2

Arthrogryposis, distal, type 1B, 614335 (3)- MYBPC1

Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3)- MYH3

Arthrogryposis, distal, type 2B1, 601680 (3)- TNNI2

Arthrogryposis, distal, type 2B2, 618435 (3)- TNNT3

Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3)- MYH3

Arthrogryposis, distal, type 2B4, 108120 (3)- TPM2

Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)- VPS33B

Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)- VIPAS39

Arts syndrome, 301835 (3)- PRPS1

Asparagine synthetase deficiency, 615574 (3)- ASNS

Aspartylglucosaminuria, 208400 (3)- AGA

Asperger syndrome susceptibility, X-linked 1, 300494 (3)- NLGN3

Asthma, susceptibility to, 600807 (3)- PLA2G7

Asthma, susceptibility to, 600807 (3)- TNF

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

Ataxia, cerebellar, Cayman type, 601238 (3)- ATCAY

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

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

Ataxia, sensory, 1, autosomal dominant, 608984 (3)- RNF170

Ataxia-oculomotor apraxia 3, 615217 (3)- PIK3R5

Ataxia-oculomotor apraxia 4, 616267 (3)- PNKP

Ataxia-telangiectasia, 208900 (3)- ATM

Athabaskan brainstem dysgenesis syndrome, 601536 (3)- HOXA1

Atherosclerosis, susceptibility to (3)- ESR1

Atopy, susceptibility to, 147050 (3)- PLA2G7

Atransferrinemia, 209300 (3)- TF

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

Atrial fibrillation, familial, 11, 614049 (3)- GJA5

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

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

Atrial fibrillation, familial, 14, 615378 (3)- SCN2B

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, 6, 612201 (3)- NPPA

Atrial fibrillation, familial, 7, 612240 (3)- KCNA5

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

Atrial septal defect 2, 607941 (3)- GATA4

Atrial septal defect 3, 614089 (3)- MYH6

Atrial septal defect 4, 611363 (3)- TBX20

Atrial septal defect 5, 612794 (3)- ACTC1

Atrial septal defect 6, 613087 (3)- TLL1

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

Atrial septal defect 8, 614433 (3)- CITED2

Atrial septal defect 9, 614475 (3)- GATA6

Atrial standstill 2, 615745 (3)- NPPA

Atrial standstill, digenic (GJA5/SCN5A), 108770 (3)- GJA5

Atrichia with papular lesions, 209500 (3)- HR

Atrioventricular septal defect 3, 600309 (3)- GJA1

Atrioventricular septal defect 4, 614430 (3)- GATA4

Atrioventricular septal defect 5, 614474 (3)- GATA6

Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)- CRELD1

Atrioventricular septal defect, susceptibility to, 2, 606217 (3)- CRELD1

Attention deficit-hyperactivity disorder, 143465 (3)- DRD4

Attention deficit-hyperactivity disorder, susceptibility to, 143465 (3)- DRD5

Attention deficit-hyperactivity disorder, susceptibility to, 7, 613003 (3)- TPH2

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

Auriculocondylar syndrome 3, 615706 (3)- EDN1

Autism susceptibility 15, 612100 (3)- CNTNAP2

Autism susceptibility 17, 613436 (3)- SHANK2

Autism susceptibility, X-linked 1, 300425 (3)- NLGN3

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

Autism, susceptibility to, 18, 615032 (3)- CHD8

Autism, susceptibility to, X-linked 4, 300830 (3)- PTCHD1

Autism, susceptibility to, X-linked 5, 300847 (3)- RPL10

Autism, susceptibility to, X-linked 6, 300872 (3)- TMLHE

Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3)- STAT3

Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)- ZAP70

Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)- ITCH

Autoimmune lymphoproliferative syndrome, 601859 (3)- FAS

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

Autoimmune lymphoproliferative syndrome, type IB, 601859 (3)- FASLG

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

Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)- PLCG2

Autonomic nervous system dysfunction (3)- DRD4

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

Axillary odor, variation in, 117800 (3)- ABCC11

Ayme-Gripp syndrome, 601088 (3)- MAF

Site Statistics
No. of genes : 2855
No. of labs : 34
No. of tests : 5346

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16-Aug-2018
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