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COXPD9
MCID: CMB043
MIFTS: 35
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Combined Oxidative Phosphorylation Deficiency 9 (COXPD9)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 9:
Characteristics:Orphanet epidemiological data:58
combined oxidative phosphorylation defect type 9
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder death in infancy may occur onset about 6 months of age after normal growth and development in the first few months of life some patients present in the neonatal period two unrelated families have been reported (last curated august 2019) HPO:31Classifications:
ICD10:
33
Orphanet: 58
Inborn errors of metabolism |
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UniProtKB/Swiss-Prot :
73
Combined oxidative phosphorylation deficiency 9: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.
MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 9, also known as coxpd9, is related to atrial standstill 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including dyspnea An important gene associated with Combined Oxidative Phosphorylation Deficiency 9 is MRPL3 (Mitochondrial Ribosomal Protein L3), and among its related pathways/superpathways is Proton Pump Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include heart and liver, and related phenotypes are global developmental delay and hepatomegaly Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1. |
Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614582UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 9:dyspnea |
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MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 9:40
Heart,
Liver
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Articles related to Combined Oxidative Phosphorylation Deficiency 9:
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Genes related to Combined Oxidative Phosphorylation Deficiency 9 (1 elite genes):(show all 19) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:6
UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:73
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Search
GEO
for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 9.
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Biological processes related to Combined Oxidative Phosphorylation Deficiency 9 according to GeneCards Suite gene sharing:
Molecular functions related to Combined Oxidative Phosphorylation Deficiency 9 according to GeneCards Suite gene sharing:
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