OPA6
MCID: OPT025
MIFTS: 18

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 57 53 13 72
Optic Atrophy, Congenital or Early Infantile, Autosomal Recessive 57 53
Opa6 57 53

Characteristics:

OMIM:

57
Miscellaneous:
slow progression
onset in infancy or early childhood

Inheritance:
autosomal recessive


HPO:

32
optic atrophy 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:



External Ids:

MedGen 42 C1850281
UMLS 72 C1850281

Summaries for Optic Atrophy 6

MalaCards based summary : Optic Atrophy 6, also known as optic atrophy, congenital or early infantile, autosomal recessive, 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)). 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 Autosomal Dominant Optic Atrophy Plus Syndrome

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:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 optic atrophy 32 HP:0000648
3 photophobia 32 HP:0000613
4 red-green dyschromatopsia 32 HP:0000642

Symptoms via clinical synopsis from OMIM:

57
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

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. 8
14508503 2003
2
Recessively inherited, simple optic atrophy--does it exist? 8
1594192 1992
3
Ocular toxicity of intravitreal melphalan for retinoblastoma in Chinese patients. 38
30808420 2019
4
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 38
26000322 2015
5
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 38
24126030 2014
6
Dominant optic atrophy. 38
22776096 2012
7
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 38
22815638 2012
8
[Incidence of ocular manifestations in patients with histologically confirmed systemic sarcoidosis]. 38
12830396 2003
9
3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. 38
9553953 1998
10
Blindness and low vision in southeast Turkey. 38
8956316 1996
11
Visual impairment and incidence of blindness in Liberia and their relation to onchocerciasis. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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