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
NM_152269.4(C12orf65):c.44G>A (p.Arg15Gln)91574C12orf65Benign78651634RCV000230554; RCV000230554; RCV000676975; RCV000116506; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C0037772; MedGen:CN517202; MedGen:CN16937412123738265123738265-C3150801 613559 Combined oxidative phosphorylation deficiency 7;
NM_152269.4(C12orf65):c.96_99dupATCC (p.Pro34Ilefs)91574C12orf65Pathogenic863223926RCV000694009; RCV000694009; RCV000198209; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C0037772; MedGen:CN51720212123738317123738320-C3150801 613559 Combined oxidative phosphorylation deficiency 7;
NM_152269.4(C12orf65):c.210delA (p.Gly72Alafs)91574C12orf65Pathogenic/Likely pathogenic576462794RCV000000071; RCV000200775; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; MedGen:CN51720212123738431123738431OMIM Allelic Variant:613541.0002C3150801 613559 Combined oxidative phosphorylation deficiency 7;
NM_001143905.2(C12orf65):c.248delT (p.Val83Glyfs)91574C12orf65Pathogenic/Likely pathogenic587776508RCV000454329; RCV000000070; RCV000679867; NHuman Phenotype Ontology:HP:0012443,MedGen:C4021085; MedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; MedGen:C3539506,OMIM:615035, Orphanet:ORPHA32037512123738469123738469OMIM Allelic Variant:613541.0001C4021085 Abnormality of brain morphology;
NM_152269.4(C12orf65):c.257A>T (p.His86Leu)91574C12orf65Uncertain significance-1RCV000707177; RCV000707177; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; Human Phenotype Ontology:HP:0001258,MedGen:C003777212123738478123738478-C3150801 613559 Combined oxidative phosphorylation deficiency 7;
NM_152269.4(C12orf65):c.347T>C (p.Val116Ala)91574C12orf65Uncertain significance374464556RCV000660551; RCV000660551; NMedGen:C3150801,OMIM:613559, Orphanet:ORPHA254930; MedGen:C3539506,OMIM:615035, Orphanet:ORPHA32037512123741424123741424-C3150801 613559 Combined oxidative phosphorylation deficiency 7;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000130921 MSeqDR Search EnsemblC12orf65106chromosome 12 open reading frame 65 [Source:HGNC Symbol;Acc:26784]00493

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