MCID: ATS300
MIFTS: 10

Autosomal Dominant Optic Atrophy, Classic Form

Categories: Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Optic Atrophy, Classic Form

MalaCards integrated aliases for Autosomal Dominant Optic Atrophy, Classic Form:

Name: Autosomal Dominant Optic Atrophy, Classic Form 56
Autosomal Dominant Optic Atrophy, Kjer Type 56
Optic Atrophy, Autosomal Dominant 69
Optic Atrophy Type 1 56
Kjer Optic Atrophy 56

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant optic atrophy, classic form
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA98673
ICD10 via Orphanet 34 H47.2

Summaries for Autosomal Dominant Optic Atrophy, Classic Form

MalaCards based summary : Autosomal Dominant Optic Atrophy, Classic Form, also known as autosomal dominant optic atrophy, kjer type, is related to optic atrophy 1 and optic atrophy 1 and deafness. An important gene associated with Autosomal Dominant Optic Atrophy, Classic Form is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase). Affiliated tissues include eye.

Related Diseases for Autosomal Dominant Optic Atrophy, Classic Form

Diseases related to Autosomal Dominant Optic Atrophy, Classic Form via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 optic atrophy 1 11.7
2 optic atrophy 1 and deafness 10.9
3 retinitis 9.7

Symptoms & Phenotypes for Autosomal Dominant Optic Atrophy, Classic Form

Drugs & Therapeutics for Autosomal Dominant Optic Atrophy, Classic Form

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Optic Atrophy, Classic Form

Genetic Tests for Autosomal Dominant Optic Atrophy, Classic Form

Anatomical Context for Autosomal Dominant Optic Atrophy, Classic Form

MalaCards organs/tissues related to Autosomal Dominant Optic Atrophy, Classic Form:

39
Eye

Publications for Autosomal Dominant Optic Atrophy, Classic Form

Variations for Autosomal Dominant Optic Atrophy, Classic Form

Expression for Autosomal Dominant Optic Atrophy, Classic Form

Search GEO for disease gene expression data for Autosomal Dominant Optic Atrophy, Classic Form.

Pathways for Autosomal Dominant Optic Atrophy, Classic Form

GO Terms for Autosomal Dominant Optic Atrophy, Classic Form

Sources for Autosomal Dominant Optic Atrophy, Classic Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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