OPA7
MCID: OPT074
MIFTS: 23

Optic Atrophy 7 with or Without Auditory Neuropathy (OPA7)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 58 76
Optic Atrophy 7 58 76 30 6 74
Opa7 58 76
Atrophy, Optic, Type 7, with/without Auditory Neuropathy 41
Autosomal Recessive Optic Atrophy, Opa7 Type 60
Optic Atrophy-7 13

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive optic atrophy, opa7 type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable age of onset


HPO:

33
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 : 76 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). The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include retina, lung and eye, and related phenotypes are sensorineural hearing impairment and hypertrophic cardiomyopathy

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

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
2 hypertrophic cardiomyopathy 33 occasional (7.5%) HP:0001639
3 strabismus 33 occasional (7.5%) HP:0000486
4 horizontal nystagmus 33 occasional (7.5%) HP:0000666
5 optic atrophy 33 HP:0000648
6 pallor 33 HP:0000980
7 reduced visual acuity 33 HP:0007663
8 central scotoma 33 HP:0000603
9 optic disc pallor 33 HP:0000543
10 constriction of peripheral visual field 33 HP:0001133
11 dyschromatopsia 33 HP:0007641

Symptoms via clinical synopsis from OMIM:

58
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

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

Drugs for Optic Atrophy 7 with or Without Auditory Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 2, Phase 3
2 Immunologic Factors Phase 2, Phase 3
3 Heptavalent Pneumococcal Conjugate Vaccine Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Vaccine for Reducing Ear and Lung Infections in Children Completed NCT01545375 Phase 2, Phase 3

Search 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 30 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:

42
Retina, Lung, 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
3 TMEM126A NM_032273.3(TMEM126A): c.191G> A (p.Arg64His) single nucleotide variant Conflicting interpretations of pathogenicity rs11556797 GRCh38 Chromosome 11, 85654167: 85654167
4 TMEM126A NM_032273.3(TMEM126A): c.191G> A (p.Arg64His) single nucleotide variant Conflicting interpretations of pathogenicity rs11556797 GRCh37 Chromosome 11, 85365211: 85365211

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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