MCID: OPT074
MIFTS: 20

Optic Atrophy 7 with or Without Auditory Neuropathy

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

Aliases & Classifications for Optic Atrophy 7 with or Without Auditory Neuropathy

MalaCards integrated aliases for Optic Atrophy 7 with or Without Auditory Neuropathy:

Name: Optic Atrophy 7 with or Without Auditory Neuropathy 57 75
Optic Atrophy 7 57 75 29 6 73
Opa7 57 75
Atrophy, Optic, Type 7, with/without Auditory Neuropathy 40
Autosomal Recessive Optic Atrophy, Opa7 Type 59
Optic Atrophy-7 13

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive optic atrophy, opa7 type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable age of onset


HPO:

32
optic atrophy 7 with or without auditory neuropathy:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Optic Atrophy 7 with or Without Auditory Neuropathy

UniProtKB/Swiss-Prot : 75 Optic atrophy 7 with or without auditory neuropathy: A hereditary condition that features 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. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss.

MalaCards based summary : Optic Atrophy 7 with or Without Auditory Neuropathy, is also known as optic atrophy 7. An important gene associated with Optic Atrophy 7 with or Without Auditory Neuropathy is TMEM126A (Transmembrane Protein 126A). Affiliated tissues include retina and eye, and related phenotypes are sensorineural hearing impairment and strabismus

Description from OMIM: 612989

Related Diseases for Optic Atrophy 7 with or Without Auditory Neuropathy

Symptoms & Phenotypes for Optic Atrophy 7 with or Without Auditory Neuropathy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic atrophy
dyschromatopsia
strabismus (in some patients)
temporal optic nerve pallor
visual field constriction
more
Cardiovascular Heart:
cardiomyopathy, hypertrophic (rare)

Head And Neck Ears:
hearing loss, sensorineural, mild progressive (in some patients)

Neurologic Peripheral Nervous System:
sensory-motor axonal neuropathy (rare)


Clinical features from OMIM:

612989

Human phenotypes related to Optic Atrophy 7 with or Without Auditory Neuropathy:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
2 strabismus 32 occasional (7.5%) HP:0000486
3 visual impairment 32 HP:0000505
4 optic disc pallor 32 HP:0000543
5 central scotoma 32 HP:0000603
6 optic atrophy 32 HP:0000648
7 horizontal nystagmus 32 occasional (7.5%) HP:0000666
8 constriction of peripheral visual field 32 HP:0001133
9 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
10 dyschromatopsia 32 HP:0007641
11 reduced visual acuity 32 HP:0007663

Drugs & Therapeutics for Optic Atrophy 7 with or Without Auditory Neuropathy

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 7 with or Without Auditory Neuropathy

Genetic Tests for Optic Atrophy 7 with or Without Auditory Neuropathy

Genetic tests related to Optic Atrophy 7 with or Without Auditory Neuropathy:

# Genetic test Affiliating Genes
1 Optic Atrophy 7 29 TMEM126A

Anatomical Context for Optic Atrophy 7 with or Without Auditory Neuropathy

MalaCards organs/tissues related to Optic Atrophy 7 with or Without Auditory Neuropathy:

41
Retina, Eye

Publications for Optic Atrophy 7 with or Without Auditory Neuropathy

Variations for Optic Atrophy 7 with or Without Auditory Neuropathy

ClinVar genetic disease variations for Optic Atrophy 7 with or Without Auditory Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM126A NM_032273.3(TMEM126A): c.163C> T (p.Arg55Ter) single nucleotide variant Pathogenic rs121434508 GRCh37 Chromosome 11, 85365183: 85365183
2 TMEM126A NM_032273.3(TMEM126A): c.163C> T (p.Arg55Ter) single nucleotide variant Pathogenic rs121434508 GRCh38 Chromosome 11, 85654139: 85654139

Expression for Optic Atrophy 7 with or Without Auditory Neuropathy

Search GEO for disease gene expression data for Optic Atrophy 7 with or Without Auditory Neuropathy.

Pathways for Optic Atrophy 7 with or Without Auditory Neuropathy

GO Terms for Optic Atrophy 7 with or Without Auditory Neuropathy

Sources for Optic Atrophy 7 with or Without Auditory Neuropathy

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
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