MCID: OPT059
MIFTS: 12

Optic Atrophy 4

Categories: Eye diseases, Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Optic Atrophy 4

MalaCards integrated aliases for Optic Atrophy 4:

Name: Optic Atrophy 4 57 73
Optic Atrophy-4 13
Opa4 57

Classifications:



External Ids:

OMIM 57 605293
UMLS 73 C1854430

Summaries for Optic Atrophy 4

MalaCards based summary : Optic Atrophy 4, also known as optic atrophy-4, is related to 3-methylglutaconic aciduria, type iii. An important gene associated with Optic Atrophy 4 is OPA4 (Optic Atrophy 4 (Autosomal Dominant)).

Description from OMIM: 605293

Related Diseases for Optic Atrophy 4

Diseases in the Primary Optic Atrophy family:

Optic Atrophy 3, Autosomal Dominant Optic Atrophy 1
Optic Atrophy 6 Optic Atrophy 2
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 9 Optic Atrophy 8
Optic Atrophy 11 Autosomal Dominant Optic Atrophy Plus Syndrome

Diseases related to Optic Atrophy 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 10.9

Symptoms & Phenotypes for Optic Atrophy 4

Clinical features from OMIM:

605293

Drugs & Therapeutics for Optic Atrophy 4

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 4

Genetic Tests for Optic Atrophy 4

Anatomical Context for Optic Atrophy 4

Publications for Optic Atrophy 4

Variations for Optic Atrophy 4

Expression for Optic Atrophy 4

Search GEO for disease gene expression data for Optic Atrophy 4.

Pathways for Optic Atrophy 4

GO Terms for Optic Atrophy 4

Sources for Optic Atrophy 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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