MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
expand
Optic Atrophies, Hereditary (D015418)
..Starting node
..expand
OPTIC ATROPHY 11 (OMIM:617302)

       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:9141
Name:OPTIC ATROPHY 11
Definition:
Alternative IDs:
ParentIDs:MESH:D015418
TreeNumbers:C10.292.700.225.500/617302 |C10.574.500.662/617302 |C11.270.564/617302 |C11.640.451.451/617302 |C16.320.290.564/617302 |C16.320.400.630/617302
Synonyms:OPA11
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 617302
MeSH: 617302
OMIM: 617302;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000646Amblyopia
4 HP:0012444Brain atrophy
5 HP:0001321Cerebellar hypoplasia
6 HP:0001310Dysmetria
7 HP:0001349Facial diplegia
8 HP:0001290Generalized hypotoniaHP:0040283
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001263Global developmental delay
NAMDC:  Mental retardation
11 HP:0000752Hyperactivity
12 HP:0002487Hyperkinesis
13 HP:0000540Hypermetropia
14 HP:0001249Intellectual disability
15 HP:0002352Leukoencephalopathy
16 HP:0000256Macrocephaly
17 HP:0000400Macrotia
18 HP:0000252Microcephaly
19 HP:0011800Midface retrusion
20 HP:0000545Myopia
21 HP:0000648Optic atrophy
22 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
23 HP:0000486Strabismus
24 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg)10730YME1L1Uncertain significancers758233530RCV001333036; NMONDO:MONDO:0015011,MedGen:C4310628,OMIM:617302102740099727400997TC27400997-
NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp)10730YME1L1Pathogenicrs1057519312RCV000415698; NMONDO:MONDO:0015011,MedGen:C4310628,OMIM:617302102742530027425300GANC_000010.10:g.27425300G>AClinGen:CA16044002,OMIM:607472.0001C4310628 617302 Optic atrophy 11;
MSeqDR Portal