OPA6
MCID: OPT025
MIFTS: 26

Optic Atrophy 6 (OPA6)

Categories: 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 57 12 20 13 15 71
Opa6 57 12 20
Optic Atrophy, Congenital or Early Infantile, Autosomal Recessive 57 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 258500
OMIM Phenotypic Series 57 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 optic atrophy 1 and toxic optic neuropathy. An important gene associated with Optic Atrophy 6 is OPA6 (Optic Atrophy 6 (Autosomal Recessive)). Related phenotypes are visual impairment and optic atrophy

More information from OMIM: 258500 PS165500

Related Diseases for Optic Atrophy 6

Graphical network of the top 20 diseases related to Optic Atrophy 6:



Diseases related to Optic Atrophy 6

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

Publications for Optic Atrophy 6

Articles related to Optic Atrophy 6:

(show all 12)
# Title Authors PMID Year
1
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. 57
14508503 2003
2
Recessively inherited, simple optic atrophy--does it exist? 57
1594192 1992
3
Development of a RAPD marker-based classification criterion for quality semen production in Holstein crossbred bulls. 61
33559234 2021
4
Ocular toxicity of intravitreal melphalan for retinoblastoma in Chinese patients. 61
30808420 2019
5
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 61
26000322 2015
6
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 61
24126030 2014
7
Dominant optic atrophy. 61
22776096 2012
8
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 61
22815638 2012
9
[Incidence of ocular manifestations in patients with histologically confirmed systemic sarcoidosis]. 61
12830396 2003
10
3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. 61
9553953 1998
11
Blindness and low vision in southeast Turkey. 61
8956316 1996
12
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

Biological processes related to Optic Atrophy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 8.96 LIPM LIPK
2 cornification GO:0070268 8.62 LIPM LIPK

Molecular functions related to Optic Atrophy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on ester bonds GO:0016788 8.62 LIPM LIPK

Sources for Optic Atrophy 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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