MCID: ATS326
MIFTS: 17

Autosomal Recessive Isolated Optic Atrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Isolated Optic Atrophy

MalaCards integrated aliases for Autosomal Recessive Isolated Optic Atrophy:

Name: Autosomal Recessive Isolated Optic Atrophy 58
Autosomal Recessive Non-Syndromic Optic Atrophy 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive isolated optic atrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H47.2
Orphanet 58 ORPHA98676

Summaries for Autosomal Recessive Isolated Optic Atrophy

MalaCards based summary : Autosomal Recessive Isolated Optic Atrophy, also known as autosomal recessive non-syndromic optic atrophy, is related to optic atrophy 8 and optic atrophy 4. An important gene associated with Autosomal Recessive Isolated Optic Atrophy is TMEM126A (Transmembrane Protein 126A). Affiliated tissues include eye.

Related Diseases for Autosomal Recessive Isolated Optic Atrophy

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

# Related Disease Score Top Affiliating Genes
1 optic atrophy 8 9.9 YME1L1 TMEM126A
2 optic atrophy 4 9.9 YME1L1 TMEM126A
3 optic nerve disease 9.8 YME1L1 TMEM126A
4 optic atrophy 9 9.7 RTN4IP1 ACO2
5 autosomal recessive disease 9.6 YME1L1 RTN4IP1
6 3-methylglutaconic aciduria, type iii 9.5 TMEM126A RTN4IP1

Graphical network of the top 20 diseases related to Autosomal Recessive Isolated Optic Atrophy:



Diseases related to Autosomal Recessive Isolated Optic Atrophy

Symptoms & Phenotypes for Autosomal Recessive Isolated Optic Atrophy

Drugs & Therapeutics for Autosomal Recessive Isolated Optic Atrophy

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Isolated Optic Atrophy

Genetic Tests for Autosomal Recessive Isolated Optic Atrophy

Anatomical Context for Autosomal Recessive Isolated Optic Atrophy

MalaCards organs/tissues related to Autosomal Recessive Isolated Optic Atrophy:

40
Eye

Publications for Autosomal Recessive Isolated Optic Atrophy

Articles related to Autosomal Recessive Isolated Optic Atrophy:

# Title Authors PMID Year
1
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 6
22815638 2012
2
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. 6
20405026 2010
3
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. 6
19327736 2009

Variations for Autosomal Recessive Isolated Optic Atrophy

ClinVar genetic disease variations for Autosomal Recessive Isolated Optic Atrophy:

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

Expression for Autosomal Recessive Isolated Optic Atrophy

Search GEO for disease gene expression data for Autosomal Recessive Isolated Optic Atrophy.

Pathways for Autosomal Recessive Isolated Optic Atrophy

GO Terms for Autosomal Recessive Isolated Optic Atrophy

Cellular components related to Autosomal Recessive Isolated Optic Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 YME1L1 TMEM126A RTN4IP1 MCAT ACO2

Sources for Autosomal Recessive Isolated Optic Atrophy

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