MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:2794
Name:COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Definition:
Alternative IDs:DO:DOID:0060286
ParentIDs:MESH:D017237
TreeNumbers:C05.651.460.620/613559 |C10.228.140.163.540/613559 |C10.668.491.500.500/613559 |C18.452.132.540/613559 |C18.452.660.560.620/613559
Synonyms:COXPD7
Slim Mappings:Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 613559
MeSH: 613559
OMIM: 613559;
MSeqDR LSDB: 00493;  
Genes: C12orf65; SDHB;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001284Areflexia
3 HP:0001251Ataxia
4 HP:0002376Developmental regression
5 HP:0002936Distal sensory impairment
6 HP:0001260Dysarthria
NAMDC:  Dysarthria
7 HP:0001349Facial diplegia
8 HP:0001508Failure to thrive
9 HP:0001290Generalized hypotonia
10 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
11 HP:0001263Global developmental delay
NAMDC:  Mental retardation
12 HP:0002490Increased CSF lactate
13 HP:0002151Increased serum lactate
14 HP:0000639Nystagmus
15 HP:0000602Ophthalmoplegia
16 HP:0000648Optic atrophy
17 HP:0002590Paralytic ileus
18 HP:0003676Progressive
19 HP:0000508Ptosis
NAMDC:  Ptosis
20 HP:0003202Skeletal muscle atrophy
21 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
GRCh37/hg19 12q24.31(chr12:123738222-123738503)91574C12orf65Pathogenic-1RCV001004071; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA25493012123738222123738503-
NM_152269.5(C12orf65):c.96_99dup (p.Pro34fs)91574C12orf65Pathogenicrs863223926RCV000694009; RCV000694009; RCV000198209; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C0037772; MedGen:CN5172021212373831612373831712:g.123738316_123738317insATCC-
NM_152269.5(C12orf65):c.210del (p.Gly72fs)91574C12orf65Pathogenic/Likely pathogenicrs576462794RCV000000071; RCV000200775; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; MedGen:CN5172021212373843112373843112:g.123738431_123738431delOMIM Allelic Variant:613541.0002C3150801 613559 Combined oxidative phosphorylation deficiency 7;
NM_152269.5(C12orf65):c.248del (p.Val83fs)91574C12orf65Pathogenic/Likely pathogenicrs587776508RCV000454329; RCV000000070; RCV001003606; RCV000679867; NHuman Phenotype Ontology:HP:0012443,MedGen:C4021085; MedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0200134,MedGen:C0543888; MedGen:C3539506,OMIM:6150351212373846912373846912:g.123738469_123738469delOMIM Allelic Variant:613541.0001C4021085 Abnormality of brain morphology;
NM_152269.5(C12orf65):c.257A>T (p.His86Leu)91574C12orf65Uncertain significancers1565998038RCV000707177; RCV000707177; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C00377721212373847812373847812:g.123738478A>T-
NM_152269.5(C12orf65):c.326G>A (p.Arg109Gln)91574C12orf65Uncertain significance-1RCV000819818; RCV000819818; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C00377721212374140312374140312:g.123741403G>A-
NM_152269.5(C12orf65):c.347T>C (p.Val116Ala)91574C12orf65Uncertain significancers374464556RCV000660551; RCV000660551; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; MedGen:C3539506,OMIM:6150351212374142412374142412:g.123741424T>C-C3150801 613559 Combined oxidative phosphorylation deficiency 7;
NM_152269.5(C12orf65):c.419A>G (p.Glu140Gly)91574C12orf65Uncertain significance-1RCV000800098; RCV000800098; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C00377721212374149612374149612:g.123741496A>G-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000130921 MSeqDR Search EnsemblC12orf65108chromosome 12 open reading frame 65 [Source:HGNC Symbol;Acc:26784]00493

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