MCID: ATS326
MIFTS: 11

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 59
Autosomal Recessive Nonsyndromic Optic Atrophy 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA98676
ICD10 via Orphanet 34 H47.2

Summaries for Autosomal Recessive Isolated Optic Atrophy

MalaCards based summary : Autosomal Recessive Isolated Optic Atrophy, also known as autosomal recessive nonsyndromic optic atrophy, is related to 3-methylglutaconic aciduria, type iii. An important gene associated with Autosomal Recessive Isolated Optic Atrophy is RTN4IP1 (Reticulon 4 Interacting Protein 1). Affiliated tissues include eye, and related phenotype is Decreased hepcidin::fluc mRNA expression.

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 3-methylglutaconic aciduria, type iii 10.2

Symptoms & Phenotypes for Autosomal Recessive Isolated Optic Atrophy

GenomeRNAi Phenotypes related to Autosomal Recessive Isolated Optic Atrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.62 ACO2 RTN4IP1

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:

41
Eye

Publications for Autosomal Recessive Isolated Optic Atrophy

Articles related to Autosomal Recessive Isolated Optic Atrophy:

# Title Authors Year
1
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal- recessive nonsyndromic optic atrophy. ( 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 8.62 ACO2 RTN4IP1

Sources for Autosomal Recessive Isolated Optic Atrophy

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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