OPA7
MCID: OPT074
MIFTS: 36

Optic Atrophy 7 with or Without Auditory Neuropathy (OPA7)

Categories: Ear diseases, 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 57 12 72
Optic Atrophy 7 57 12 72 29 6 15 70
Opa7 57 12 72
Atrophy, Optic, Type 7, with/without Auditory Neuropathy 39
Autosomal Recessive Optic Atrophy, Opa7 Type 58
Optic Atrophy-7 13

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive optic atrophy, opa7 type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable age of onset


HPO:

31
optic atrophy 7 with or without auditory neuropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111437
OMIM® 57 612989
OMIM Phenotypic Series 57 PS165500
MeSH 44 D015418
ICD10 via Orphanet 33 H47.2
Orphanet 58 ORPHA227976
MedGen 41 C2751812
UMLS 70 C2751812

Summaries for Optic Atrophy 7 with or Without Auditory Neuropathy

UniProtKB/Swiss-Prot : 72 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, also known as optic atrophy 7, is related to 3-methylglutaconic aciduria, type iii and optic atrophy 6. An important gene associated with Optic Atrophy 7 with or Without Auditory Neuropathy is TMEM126A (Transmembrane Protein 126A). Affiliated tissues include eye and retina, and related phenotypes are sensorineural hearing impairment and strabismus

Disease Ontology : 12 An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has material basis in homozygous or compound heterozygous mutation in TMEM126A on chromosome 11q14.1.

More information from OMIM: 612989 PS165500

Related Diseases for Optic Atrophy 7 with or Without Auditory Neuropathy

Diseases related to Optic Atrophy 7 with or Without Auditory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 30.4 WFS1 TMEM126A OPA3 MT-ND6 MT-ND4
2 optic atrophy 6 10.2 TMEM126A OPA3
3 optic atrophy 2 10.2 TMEM126A OPA3
4 tritanopia 10.2 TMEM126A OPA3
5 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.2 TMEM126A OPA3
6 behr syndrome 10.2 TMEM126A OPA3
7 optic atrophy 3, autosomal dominant 10.2 TMEM126A OPA3
8 wolfram syndrome 2 10.0 WFS1 TMEM126A
9 optic atrophy 8 10.0 WFS1 TMEM126A OPA3
10 wolfram syndrome 10.0 WFS1 TMEM126A OPA3
11 hereditary optic neuropathy 10.0 MT-ND6 MT-ND4
12 mitochondrial dna-associated leigh syndrome 9.9 MT-ND6 MT-ND4
13 mitochondrial dna-associated leigh syndrome and narp 9.9 MT-ND6 MT-ND4
14 drug-induced hearing loss 9.9 MT-ND6 MT-ND4
15 leber optic atrophy and dystonia 9.9 MT-ND6 MT-ND4
16 pearson marrow-pancreas syndrome 9.9 MT-ND6 MT-ND4
17 deafness, aminoglycoside-induced 9.8 MT-ND6 MT-ND4
18 chronic progressive external ophthalmoplegia 9.8 OPA3 MT-ND6 MT-ND4
19 mitochondrial metabolism disease 9.8 MT-ND6 MT-ND4
20 kearns-sayre syndrome 9.7 OPA3 MT-ND6 MT-ND4
21 cortical blindness 9.7 MT-ND6 MT-ND4
22 neuropathy, ataxia, and retinitis pigmentosa 9.7 TMEM126B MT-ND6 MT-ND4
23 optic neuritis 9.7 MT-ND6 MT-ND4
24 toxic optic neuropathy 9.6 TMEM126A OPA3 MT-ND6 MT-ND4
25 scotoma 9.6 TMEM126A OPA3 MT-ND6 MT-ND4
26 mitochondrial disorders 9.6 TMEM126B MT-ND6 MT-ND4
27 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 TMEM126B MT-ND6 MT-ND4
28 myoclonic epilepsy associated with ragged-red fibers 9.6 MT-ND6 MT-ND4
29 mitochondrial complex i deficiency, nuclear type 1 9.6 TMEM126B MT-ND6 MT-ND4
30 neuropathy 9.5 WFS1 TMEM126A MT-ND6 MT-ND4
31 cranial nerve disease 9.5 WFS1 OPA3 MT-ND6 MT-ND4
32 peripheral nervous system disease 9.5 WFS1 OPA3 MT-ND6 MT-ND4
33 leber plus disease 9.5 WFS1 OPA3 MT-ND6 MT-ND4
34 optic atrophy 4 9.4 WFS1 TMEM126A OPA3 MT-ND6 MT-ND4
35 optic atrophy 5 9.4 WFS1 TMEM126A OPA3 MT-ND6 MT-ND4
36 optic nerve disease 9.4 WFS1 TMEM126A OPA3 MT-ND6 MT-ND4
37 leber hereditary optic neuropathy, modifier of 9.1 WFS1 TMEM126B TMEM126A OPA3 MT-ND6 MT-ND4

Graphical network of the top 20 diseases related to Optic Atrophy 7 with or Without Auditory Neuropathy:



Diseases related to 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
2 strabismus 31 occasional (7.5%) HP:0000486
3 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
4 horizontal nystagmus 31 occasional (7.5%) HP:0000666
5 optic atrophy 31 HP:0000648
6 pallor 31 HP:0000980
7 reduced visual acuity 31 HP:0007663
8 optic disc pallor 31 HP:0000543
9 constriction of peripheral visual field 31 HP:0001133
10 central scotoma 31 HP:0000603
11 dyschromatopsia 31 HP:0007641

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Retina

Publications for Optic Atrophy 7 with or Without Auditory Neuropathy

Articles related to Optic Atrophy 7 with or Without Auditory Neuropathy:

# Title Authors PMID Year
1
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 61 57 6
22815638 2012
2
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. 6 57
20405026 2010
3
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. 6 57
19327736 2009
4
First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations. 61
24051421 2013
5
Molecular genetic diversity within Myrmeleontidae family. 61
23065226 2013
6
Dominant optic atrophy. 61
22776096 2012
7
Differentiation of Symphytum species using RAPD and seed fatty acid patterns. 61
20433078 2010

Variations for Optic Atrophy 7 with or Without Auditory Neuropathy

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

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM126A NM_032273.4(TMEM126A):c.420_421dup (p.Lys141fs) Microsatellite Pathogenic 1030023 GRCh37: 11:85367372-85367373
GRCh38: 11:85656328-85656329
2 TMEM126A NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) SNV Pathogenic 410 rs121434508 GRCh37: 11:85365183-85365183
GRCh38: 11:85654139-85654139
3 TMEM126A NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) SNV Uncertain significance 196566 rs142717432 GRCh37: 11:85365107-85365107
GRCh38: 11:85654063-85654063
4 TMEM126A NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) SNV Uncertain significance 883827 GRCh37: 11:85366725-85366725
GRCh38: 11:85655681-85655681
5 TMEM126A NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) SNV Uncertain significance 883048 GRCh37: 11:85361319-85361319
GRCh38: 11:85650275-85650275
6 TMEM126A NM_032273.4(TMEM126A):c.-98C>G SNV Uncertain significance 883047 GRCh37: 11:85359043-85359043
GRCh38: 11:85647999-85647999
7 TMEM126A NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) SNV Uncertain significance 167733 rs546358774 GRCh37: 11:85366742-85366742
GRCh38: 11:85655698-85655698
8 TMEM126A NM_032273.4(TMEM126A):c.-16G>C SNV Uncertain significance 306322 rs548326357 GRCh37: 11:85359125-85359125
GRCh38: 11:85648081-85648081
9 TMEM126A NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val) SNV Uncertain significance 306323 rs886048713 GRCh37: 11:85367444-85367444
GRCh38: 11:85656400-85656400
10 TMEM126A NM_032273.4(TMEM126A):c.502A>G (p.Met168Val) SNV Uncertain significance 306324 rs886048714 GRCh37: 11:85367459-85367459
GRCh38: 11:85656415-85656415
11 TMEM126A NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) SNV Uncertain significance 880529 GRCh37: 11:85367520-85367520
GRCh38: 11:85656476-85656476
12 TMEM126A NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) SNV Likely benign 137669 rs36100288 GRCh37: 11:85365116-85365116
GRCh38: 11:85654072-85654072
13 TMEM126A NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr) SNV Likely benign 137671 rs34397695 GRCh37: 11:85367519-85367519
GRCh38: 11:85656475-85656475
14 TMEM126A NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) SNV Likely benign 196565 rs140047528 GRCh37: 11:85365174-85365174
GRCh38: 11:85654130-85654130
15 TMEM126A NM_032273.4(TMEM126A):c.280+14C>T SNV Likely benign 215270 rs117453673 GRCh37: 11:85365314-85365314
GRCh38: 11:85654270-85654270
16 TMEM126A NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) SNV Likely benign 197361 rs146573578 GRCh37: 11:85366671-85366671
GRCh38: 11:85655627-85655627
17 TMEM126A NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) SNV Benign/Likely benign 137670 rs11556797 GRCh37: 11:85365211-85365211
GRCh38: 11:85654167-85654167
18 TMEM126A NM_032273.4(TMEM126A):c.395+5G>A SNV Benign 215271 rs115906592 GRCh37: 11:85366757-85366757
GRCh38: 11:85655713-85655713
19 TMEM126A NM_032273.4(TMEM126A):c.395+10A>G SNV Benign 262022 rs2196168 GRCh37: 11:85366762-85366762
GRCh38: 11:85655718-85655718
20 TMEM126A NM_032273.4(TMEM126A):c.-69T>A SNV Benign 306320 rs17148285 GRCh37: 11:85359072-85359072
GRCh38: 11:85648028-85648028

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

Cellular components related to Optic Atrophy 7 with or Without Auditory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 TMEM126B TMEM126A OPA3 MT-ND6 MT-ND4
2 respiratory chain GO:0070469 9.26 MT-ND6 MT-ND4
3 mitochondrial membrane GO:0031966 9.13 TMEM126B MT-ND6 MT-ND4
4 mitochondrial inner membrane GO:0005743 8.92 TMEM126B TMEM126A MT-ND6 MT-ND4

Biological processes related to Optic Atrophy 7 with or Without Auditory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND6 MT-ND4
2 response to nicotine GO:0035094 9.16 MT-ND6 MT-ND4
3 methylation GO:0032259 9.13 METTL7B METTL25 METTL24
4 mitochondrial respiratory chain complex I assembly GO:0032981 8.92 TMEM126B TMEM126A MT-ND6 MT-ND4

Molecular functions related to Optic Atrophy 7 with or Without Auditory Neuropathy 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 methyltransferase activity GO:0008168 8.8 METTL7B METTL25 METTL24

Sources for Optic Atrophy 7 with or Without Auditory Neuropathy

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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