OPA6
MCID: OPT025
MIFTS: 28

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 15 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 3-methylglutaconic aciduria, type iii 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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.9 TMEM126A OPA6 OPA3 MT-ND6 MT-ND4 CRYZL1
2 optic atrophy 1 11.2
3 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.1 TMEM126A OPA3
4 behr syndrome 10.1 TMEM126A OPA3
5 nutritional optic neuropathy 10.0 OPA3 MT-ND4
6 drug-induced hearing loss 9.9 MT-ND6 MT-ND4
7 leber optic atrophy and dystonia 9.9 MT-ND6 MT-ND4
8 pearson marrow-pancreas syndrome 9.8 MT-ND6 MT-ND4
9 neuropathy, ataxia, and retinitis pigmentosa 9.8 MT-ND6 MT-ND4
10 optic atrophy 2 9.8 TMEM126A OPA3 CRYZL1
11 optic atrophy 3, autosomal dominant 9.8 TMEM126A OPA3 CRYZL1
12 hereditary optic neuropathy 9.8 MT-ND6 MT-ND4
13 deafness, aminoglycoside-induced 9.8 MT-ND6 MT-ND4
14 ocular motility disease 9.8 MT-ND4 CRYZL1
15 cortical blindness 9.8 MT-ND6 MT-ND4
16 wolfram syndrome 9.7 TMEM126A MT-ND4
17 chronic progressive external ophthalmoplegia 9.7 MT-ND6 MT-ND4
18 lysosomal and lipase deficiency 9.7 LIPM LIPK
19 optic neuritis 9.7 MT-ND6 MT-ND4
20 lysosomal acid lipase deficiency 9.6 LIPM LIPK
21 cranial nerve disease 9.6 OPA3 MT-ND6 MT-ND4
22 kearns-sayre syndrome 9.6 OPA3 MT-ND6 MT-ND4
23 myoclonic epilepsy associated with ragged-red fibers 9.5 MT-ND6 MT-ND4
24 peripheral nervous system disease 9.5 OPA3 MT-ND6 MT-ND4
25 mitochondrial metabolism disease 9.5 OPA3 MT-ND6 MT-ND4
26 optic atrophy 7 with or without auditory neuropathy 9.4 TMEM126A OPA3 MT-ND6 CRYZL1
27 leber plus disease 9.4 OPA3 MT-ND6 MT-ND4
28 early myoclonic encephalopathy 9.4 MT-ND6 MT-ND4
29 optic atrophy 8 9.4 TMEM126A OPA3 MT-ND4 CRYZL1
30 tritanopia 9.4 TMEM126A OPA3 MT-ND4 CRYZL1
31 toxic optic neuropathy 9.3 TMEM126A OPA3 MT-ND6 MT-ND4
32 scotoma 9.3 TMEM126A OPA3 MT-ND6 MT-ND4
33 optic nerve disease 9.3 TMEM126A OPA3 MT-ND6 MT-ND4
34 leber optic atrophy 9.3 TMEM126A OPA3 MT-ND6 MT-ND4
35 optic atrophy 4 9.0 TMEM126A OPA3 MT-ND6 MT-ND4 CRYZL1
36 optic atrophy 5 9.0 TMEM126A OPA3 MT-ND6 MT-ND4 CRYZL1

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:

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

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

Cellular components related to Optic Atrophy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.13 TMEM126A MT-ND6 MT-ND4
2 respiratory chain GO:0070469 8.62 MT-ND6 MT-ND4

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 9.32 LIPM LIPK
2 cornification GO:0070268 9.26 LIPM LIPK
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.16 MT-ND6 MT-ND4
4 response to nicotine GO:0035094 8.96 MT-ND6 MT-ND4
5 mitochondrial respiratory chain complex I assembly GO:0032981 8.8 TMEM126A MT-ND6 MT-ND4

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

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.96 MT-ND6 MT-ND4
2 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
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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