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Parent Node:
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Optic Atrophies, Hereditary (D015418)
..Starting node
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Optic Atrophy 7 (C567833)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)  LSDB  L: 00657;
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandOPTIC ATROPHY 11 (OMIM:617302)
..expandOPTIC ATROPHY 2 (OMIM:311050)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOPTIC ATROPHY 9 (OMIM:616289)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9147
Name:Optic Atrophy 7
Definition:
Alternative IDs:OMIM:612989
ParentIDs:MESH:D015418
TreeNumbers:C10.292.700.225.500/C567833 |C10.574.500.662/C567833 |C11.270.564/C567833 |C11.640.451.451/C567833 |C16.320.290.564/C567833 |C16.320.400.630/C567833
Synonyms:OPA7 |OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C567833
MeSH: C567833
OMIM: 612989;
MSeqDR LSDB:  
Genes: TMEM126A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000603Central scotoma Childhood onset
3 HP:0001133Constriction of peripheral visual field
4 HP:0007641Dyschromatopsia
5 HP:0000666Horizontal nystagmusHP:0040283
6 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
HP:0040283
7 HP:0000648Optic atrophy
8 HP:0000543Optic disc pallor
9 HP:0007663Reduced visual acuity
10 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
HP:0040283
11 HP:0000486StrabismusHP:0040283
12 HP:0003828Variable expressivity
13 HP:0000505Visual impairment Childhood onset
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_032273.4(TMEM126A):c.-98C>G84233TMEM126AUncertain significancers2082473214RCV001113193; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118535904385359043CG11:g.85359043C>G-
NM_032273.4(TMEM126A):c.-69T>A84233TMEM126ABenignrs17148285RCV000320832|RCV001712017; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118535907285359072TA11:g.85359072T>AClinGen:CA10635794CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.-16G>C84233TMEM126AUncertain significancers548326357RCV000282094; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118535912585359125GC11:g.85359125G>CClinGen:CA10631646CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)84233TMEM126AUncertain significancers768503384RCV001113194|RCV001856494; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536131985361319AG11:g.85361319A>G-
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser)84233TMEM126AUncertain significancers142717432RCV000724291|RCV001113195; NMedGen:CN517202|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536510785365107GC11:g.85365107G>CClinGen:CA243562CN169374 not specified;
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)84233TMEM126AConflicting interpretations of pathogenicityrs36100288RCV000125526|RCV000334757|RCV000676591; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536511685365116TGNC_000011.9:g.85365116T>GClinGen:CA291323CN517202 not provided;
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)84233TMEM126ABenign/Likely benignrs140047528RCV000177387|RCV000401117|RCV000890740; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536517485365174AG11:g.85365174A>GClinGen:CA243560CN169374 not specified;
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)84233TMEM126APathogenicrs121434508RCV000000438|RCV001699096; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536518385365183CT11:g.85365183C>TClinGen:CA114254,OMIM:612988.0001C2751812 612989 Optic atrophy 7;
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)84233TMEM126ABenign/Likely benignrs11556797RCV000125527|RCV000625489|RCV000676593; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536521185365211GANC_000011.9:g.85365211G>AClinGen:CA291325,UniProtKB:Q9H061#VAR_053817CN517202 not provided;
NM_032273.4(TMEM126A):c.280+14C>T84233TMEM126ABenign/Likely benignrs117453673RCV000197252|RCV001114561|RCV001511680; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536531485365314CTNC_000011.9:g.85365314C>TClinGen:CA321694CN169374 not specified;
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)84233TMEM126AConflicting interpretations of pathogenicityrs146573578RCV000676594|RCV001114562; NMedGen:CN517202|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536667185366671GA11:g.85366671G>AClinGen:CA245454CN517202 not provided;
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr)84233TMEM126AUncertain significancers999281366RCV001114563; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536672585366725TC11:g.85366725T>C-
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)84233TMEM126AConflicting interpretations of pathogenicityrs546358774RCV000154005|RCV001114564; NMedGen:CN517202|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536674285366742CGNC_000011.9:g.85366742C>GClinGen:CA234995CN169374 not specified;
NM_032273.4(TMEM126A):c.395+5G>A84233TMEM126ABenign/Likely benignrs115906592RCV000198457|RCV000352120|RCV000962203; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536675785366757GA11:g.85366757G>AClinGen:CA322962CN169374 not specified;
NM_032273.4(TMEM126A):c.395+10A>G84233TMEM126ABenignrs2196168RCV000250500|RCV000389999|RCV000676595; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536676285366762AGNC_000011.9:g.85366762A>GClinGen:CA6212778CN517202 not provided;
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val)84233TMEM126AUncertain significancers886048713RCV000312457; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536744485367444AG11:g.85367444A>GClinGen:CA10635795CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)84233TMEM126AUncertain significancers886048714RCV000364617; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536745985367459AG11:g.85367459A>GClinGen:CA10639558CN239221 Optic Atrophy, Recessive;
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)84233TMEM126ABenign/Likely benignrs34397695RCV000125528|RCV000391384|RCV001519099; NMedGen:CN169374|MONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676|MedGen:CN517202118536751985367519TANC_000011.9:g.85367519T>AClinGen:CA291327CN169374 not specified;
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr)84233TMEM126AUncertain significancers2082541296RCV001108930; NMONDO:MONDO:0013069,MedGen:C2751812,OMIM:612989, Orphanet:227976, Orphanet:98676118536752085367520CA11:g.85367520C>A-
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