OPA10
MCID: OPT062
MIFTS: 19

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 58 76 30 6
Opa10 58 76
Atrophy, Optic, Type 10, with or Without Ataxia, Mental Retardation, and Seizures 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of visual dysfunction in early childhood


HPO:

33
optic atrophy 10 with or without ataxia, mental retardation, and seizures:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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, is also known as opa10. 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 eye, and related phenotypes are nystagmus and ataxia

Description from OMIM: 616732

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

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 ataxia 33 occasional (7.5%) HP:0001251
3 intellectual disability, mild 33 occasional (7.5%) HP:0001256
4 central scotoma 33 occasional (7.5%) HP:0000603
5 photophobia 33 HP:0000613
6 reduced visual acuity 33 HP:0007663
7 optic disc pallor 33 HP:0000543

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

42
Retina, Eye

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:

# Title Authors Year
1
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. ( 29181510 )
2018
2
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. ( 26593267 )
2015

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

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

76
# Symbol AA change Variation ID SNP ID
1 RTN4IP1 p.Arg103His VAR_076369 rs372054380

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RTN4IP1 NM_032730.5(RTN4IP1): c.308G> A (p.Arg103His) single nucleotide variant Pathogenic rs372054380 GRCh37 Chromosome 6, 107070811: 107070811
2 RTN4IP1 NM_032730.5(RTN4IP1): c.308G> A (p.Arg103His) single nucleotide variant Pathogenic rs372054380 GRCh38 Chromosome 6, 106622936: 106622936
3 RTN4IP1 NM_032730.5(RTN4IP1): c.601A> T (p.Lys201Ter) single nucleotide variant Pathogenic rs200457692 GRCh37 Chromosome 6, 107067096: 107067096
4 RTN4IP1 NM_032730.5(RTN4IP1): c.601A> T (p.Lys201Ter) single nucleotide variant Pathogenic rs200457692 GRCh38 Chromosome 6, 106619221: 106619221

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...

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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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
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