OPA10
MCID: OPT062
MIFTS: 31

Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures (OPA10)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

MalaCards integrated aliases for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

Name: Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 56 12 73 29 6
Opa10 56 12 73
Optic Atrophy 10 12 15
Atrophy, Optic, Type 10, with or Without Ataxia, Mental Retardation, and Seizures 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of visual dysfunction in early childhood


HPO:

31
optic atrophy 10 with or without ataxia, mental retardation, and seizures:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111434
OMIM 56 616732
OMIM Phenotypic Series 56 PS165500
MeSH 43 D015418

Summaries for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

UniProtKB/Swiss-Prot : 73 Optic atrophy 10 with or without ataxia, mental retardation, and seizures: An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild mental retardation and, rarely, generalized seizures.

MalaCards based summary : Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures, also known as opa10, is related to 3-methylglutaconic aciduria, type iii and branchiootic syndrome 1. An important gene associated with Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures is RTN4IP1 (Reticulon 4 Interacting Protein 1). Affiliated tissues include retina and heart, and related phenotypes are intellectual disability, mild and ataxia

Disease Ontology : 12 An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has material basis in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21.

More information from OMIM: 616732 PS165500

Related Diseases for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Graphical network of the top 20 diseases related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:



Diseases related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures

Symptoms & Phenotypes for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Human phenotypes related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 occasional (7.5%) HP:0001256
2 ataxia 31 occasional (7.5%) HP:0001251
3 nystagmus 31 occasional (7.5%) HP:0000639
4 central scotoma 31 occasional (7.5%) HP:0000603
5 photophobia 31 HP:0000613
6 reduced visual acuity 31 HP:0007663
7 optic disc pallor 31 HP:0000543

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
reduced visual acuity
optic disc pallor
nystagmus (in some patients)
central scotoma (in some patients)
more
Neurologic Central Nervous System:
mental retardation, mild (in some patients)
ataxia, mild (in some patients)
seizures, generalized (rare)

Clinical features from OMIM:

616732

Drugs & Therapeutics for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures

Genetic Tests for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Genetic tests related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

# Genetic test Affiliating Genes
1 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 29 RTN4IP1

Anatomical Context for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

MalaCards organs/tissues related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

40
Retina, Heart

Publications for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Articles related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

(show all 13)
# Title Authors PMID Year
1
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 6 56
26593267 2015
2
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant. 61
32392611 2020
3
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies. 61
31077085 2019
4
Diversity and Virulence of Alternaria spp. Causing Potato Early Blight and Brown Spot in Wisconsin. 61
30256185 2019
5
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. 61
29181510 2018
6
Siblings with optic neuropathy and RTN4IP1 mutation. 61
28638143 2017
7
Identification of Alternaria Species Causing Heart Rot of Pomegranates in California. 61
30677341 2017
8
Alternaria section Alternaria: Species, formae speciales or pathotypes? 61
26951037 2015
9
Comparison of Alternaria spp. collected in Italy from apple with A. mali and other AM-toxin producing strains. 61
22934716 2012
10
Molecular characterization of eight Indian Snakehead species (Pisces: Perciformes Channidae) using RAPD markers. 61
21814812 2012
11
Development of SCAR markers for sex determination in the dioecious shrub Aucuba japonica (Cornaceae). 61
19234551 2009
12
Fine mapping of the rice Bph1 gene, which confers resistance to the brown planthopper (Nilaparvata lugens stal), and development of STS markers for marker-assisted selection. 61
18612237 2008
13
[Genetic evidence of hybridization between paletailed Spermophilus pallidicauda Satunin, 1903 and alashanic S. alaschanicus Buchner, 1888 ground squirrels in Mongolia]. 61
16756072 2006

Variations for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

ClinVar genetic disease variations for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RTN4IP1 NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)SNV Pathogenic 218932 rs372054380 6:107070811-107070811 6:106622936-106622936
2 RTN4IP1 NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter)SNV Pathogenic 218933 rs200457692 6:107067096-107067096 6:106619221-106619221
3 RTN4IP1 NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser)SNV Likely pathogenic 807479 6:107070806-107070806 6:106622931-106622931

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures:

73
# Symbol AA change Variation ID SNP ID
1 RTN4IP1 p.Arg103His VAR_076369 rs372054380

Expression for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Search GEO for disease gene expression data for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures.

Pathways for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

GO Terms for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

Cellular components related to Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 8.96 TRAPPC2B TRAPPC2
2 TRAPP complex GO:0030008 8.62 TRAPPC2B TRAPPC2

Sources for Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and...

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
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35 IUPHAR
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43 MeSH
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48 NCI
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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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