MCID: ATS326
MIFTS: 9

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 60
Autosomal Recessive Non-Syndromic Optic Atrophy 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare eye diseases


External Ids:

ICD10 via Orphanet 35 H47.2
Orphanet 60 ORPHA98676

Summaries for Autosomal Recessive Isolated Optic Atrophy

MalaCards based summary : Autosomal Recessive Isolated Optic Atrophy, is also known as autosomal recessive non-syndromic optic atrophy. 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

Symptoms & Phenotypes for Autosomal Recessive Isolated Optic Atrophy

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

27
# 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:

42
Eye

Publications for Autosomal Recessive Isolated Optic Atrophy

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....