MCID: ATS326
MIFTS: 12

Autosomal Recessive Isolated Optic Atrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Isolated Optic Atrophy

MalaCards integrated aliases for Autosomal Recessive Isolated Optic Atrophy:

Name: Autosomal Recessive Isolated Optic Atrophy 58
Autosomal Recessive Non-Syndromic Optic Atrophy 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive isolated optic atrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H47.2
Orphanet 58 ORPHA98676

Summaries for Autosomal Recessive Isolated Optic Atrophy

MalaCards based summary : Autosomal Recessive Isolated Optic Atrophy, also known as autosomal recessive non-syndromic optic atrophy, is related to optic atrophy 9 and autosomal recessive disease. An important gene associated with Autosomal Recessive Isolated Optic Atrophy is ACO2 (Aconitase 2). Affiliated tissues include eye.

Related Diseases for Autosomal Recessive Isolated Optic Atrophy

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

# Related Disease Score Top Affiliating Genes
1 optic atrophy 9 9.4 RTN4IP1 ACO2
2 autosomal recessive disease 9.4 YME1L1 RTN4IP1
3 3-methylglutaconic aciduria, type iii 9.2 YME1L1 RTN4IP1

Symptoms & Phenotypes for Autosomal Recessive Isolated Optic Atrophy

Drugs & Therapeutics for Autosomal Recessive Isolated Optic Atrophy

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Isolated Optic Atrophy

Genetic Tests for Autosomal Recessive Isolated Optic Atrophy

Anatomical Context for Autosomal Recessive Isolated Optic Atrophy

MalaCards organs/tissues related to Autosomal Recessive Isolated Optic Atrophy:

40
Eye

Publications for Autosomal Recessive Isolated Optic Atrophy

Articles related to Autosomal Recessive Isolated Optic Atrophy:

# Title Authors PMID Year
1
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 6
22815638 2012
2
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. 6
20405026 2010
3
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. 6
19327736 2009

Variations for Autosomal Recessive Isolated Optic Atrophy

Expression for Autosomal Recessive Isolated Optic Atrophy

Search GEO for disease gene expression data for Autosomal Recessive Isolated Optic Atrophy.

Pathways for Autosomal Recessive Isolated Optic Atrophy

GO Terms for Autosomal Recessive Isolated Optic Atrophy

Cellular components related to Autosomal Recessive Isolated Optic Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.8 YME1L1 RTN4IP1 ACO2

Sources for Autosomal Recessive Isolated Optic Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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