MCID: ATS300
MIFTS: 18

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 55
Autosomal Dominant Optic Atrophy, Kjer Type 55
Optic Atrophy, Autosomal Dominant 69
Optic Atrophy Type 1 55
Kjer Optic Atrophy 55

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant optic atrophy, classic form
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA98673
ICD10 via Orphanet 33 H47.2
UMLS 69 C0338508

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 retinitis. 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:

# Related Disease Score Top Affiliating Genes
1 optic atrophy 1 11.8
2 retinitis 9.7
3 optic nerve disease 9.5 DNM1L OPA1
4 3-methylglutaconic aciduria, type iii 9.4 DNM1L OPA1

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:

38
Eye

Publications for Autosomal Dominant Optic Atrophy, Classic Form

Articles related to Autosomal Dominant Optic Atrophy, Classic Form:

# Title Authors Year
1
Visual prognosis in autosomal dominant optic atrophy (Kjer type). ( 8442497 )
1993

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

Cellular components related to Autosomal Dominant Optic Atrophy, Classic Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial outer membrane GO:0005741 8.96 DNM1L OPA1
2 mitochondrial membrane GO:0031966 8.62 DNM1L OPA1

Biological processes related to Autosomal Dominant Optic Atrophy, Classic Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.4 DNM1L OPA1
2 protein oligomerization GO:0051259 9.37 DNM1L OPA1
3 mitochondrial fission GO:0000266 9.32 DNM1L OPA1
4 mitochondrion morphogenesis GO:0070584 9.26 DNM1L OPA1
5 positive regulation of dendritic spine morphogenesis GO:0061003 9.16 DNM1L OPA1
6 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 8.96 DNM1L OPA1
7 intracellular distribution of mitochondria GO:0048312 8.62 DNM1L OPA1

Molecular functions related to Autosomal Dominant Optic Atrophy, Classic Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.32 DNM1L OPA1
2 GTP binding GO:0005525 9.26 DNM1L OPA1
3 lipid binding GO:0008289 9.16 DNM1L OPA1
4 GTPase activity GO:0003924 8.96 DNM1L OPA1
5 microtubule binding GO:0008017 8.62 DNM1L OPA1

Sources for Autosomal Dominant Optic Atrophy, Classic Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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