MCID: OPT062
MIFTS: 17

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

Categories: Genetic diseases, Eye diseases, Neuronal diseases, Mental 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 57 75 29 6
Opa10 57 75
Atrophy, Optic, Type 10, with or Without Ataxia, Mental Retardation, and Seizures 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of visual dysfunction in early childhood


HPO:

32
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 : 75 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 related phenotypes are optic disc pallor and central scotoma

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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
reduced visual acuity
photophobia
nystagmus (in some patients)
color vision impairment of red/green axis
optic disc pallor
more
Neurologic Central Nervous System:
ataxia, mild (in some patients)
mental retardation, mild (in some patients)
seizures, generalized (rare)


Clinical features from OMIM:

616732

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 32 HP:0000543
2 central scotoma 32 occasional (7.5%) HP:0000603
3 photophobia 32 HP:0000613
4 nystagmus 32 occasional (7.5%) HP:0000639
5 ataxia 32 occasional (7.5%) HP:0001251
6 intellectual disability, mild 32 occasional (7.5%) HP:0001256
7 reduced visual acuity 32 HP:0007663

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:

41
Retina

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

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:

75
# 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 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
Content
Loading form....