OPA6
MCID: OPT025
MIFTS: 21

Optic Atrophy 6 (OPA6)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Atrophy 6

MalaCards integrated aliases for Optic Atrophy 6:

Name: Optic Atrophy 6 56 12 52 13 71
Opa6 56 12 52
Optic Atrophy, Congenital or Early Infantile, Autosomal Recessive 56 52

Characteristics:

OMIM:

56
Miscellaneous:
slow progression
onset in infancy or early childhood

Inheritance:
autosomal recessive


HPO:

31
optic atrophy 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111435
OMIM 56 258500
OMIM Phenotypic Series 56 PS165500
MedGen 41 C1850281
UMLS 71 C1850281

Summaries for Optic Atrophy 6

Disease Ontology : 12 An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.

MalaCards based summary : Optic Atrophy 6, also known as opa6, is related to obsolete: autosomal recessive optic atrophy, opa6 type and optic atrophy 1. An important gene associated with Optic Atrophy 6 is OPA6 (Optic Atrophy 6 (Autosomal Recessive)). Affiliated tissues include eye, and related phenotypes are visual impairment and optic atrophy

More information from OMIM: 258500 PS165500

Related Diseases for Optic Atrophy 6

Diseases in the Primary Optic Atrophy family:

Optic Atrophy 3, Autosomal Dominant Optic Atrophy 1
Optic Atrophy 6 Optic Atrophy 2
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 9 Optic Atrophy 8
Optic Atrophy 11

Diseases related to Optic Atrophy 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: autosomal recessive optic atrophy, opa6 type 12.3
2 optic atrophy 1 11.2
3 3-methylglutaconic aciduria, type iii 11.2

Symptoms & Phenotypes for Optic Atrophy 6

Human phenotypes related to Optic Atrophy 6:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 optic atrophy 31 HP:0000648
3 photophobia 31 HP:0000613
4 red-green dyschromatopsia 31 HP:0000642

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy, isolated
photophobia, moderate
dyschromatopsia with red-green confusion
visual acuity for distant vision ranges from 1/10 to 2/10 as adult
no retinal degeneration
more

Clinical features from OMIM:

258500

Drugs & Therapeutics for Optic Atrophy 6

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 6

Genetic Tests for Optic Atrophy 6

Anatomical Context for Optic Atrophy 6

MalaCards organs/tissues related to Optic Atrophy 6:

40
Eye

Publications for Optic Atrophy 6

Articles related to Optic Atrophy 6:

(show all 11)
# Title Authors PMID Year
1
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. 56
14508503 2003
2
Recessively inherited, simple optic atrophy--does it exist? 56
1594192 1992
3
Ocular toxicity of intravitreal melphalan for retinoblastoma in Chinese patients. 61
30808420 2019
4
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 61
26000322 2015
5
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 61
24126030 2014
6
Dominant optic atrophy. 61
22776096 2012
7
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 61
22815638 2012
8
[Incidence of ocular manifestations in patients with histologically confirmed systemic sarcoidosis]. 61
12830396 2003
9
3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. 61
9553953 1998
10
Blindness and low vision in southeast Turkey. 61
8956316 1996
11
Visual impairment and incidence of blindness in Liberia and their relation to onchocerciasis. 61
1216334 1975

Variations for Optic Atrophy 6

Expression for Optic Atrophy 6

Search GEO for disease gene expression data for Optic Atrophy 6.

Pathways for Optic Atrophy 6

GO Terms for Optic Atrophy 6

Sources for Optic Atrophy 6

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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