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COXPD9
MCID: CMB043
MIFTS: 24
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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:59
combined oxidative phosphorylation defect type 9
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset about 6 months of age after normal growth and development in the first few months of life one family with 4 affected sibs has been reported (as of april 2012) two sibs died before 2 years of age HPO:32Classifications:
ICD10:
34
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UniProtKB/Swiss-Prot
:
74
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). Affiliated tissues include liver and heart, and related phenotypes are failure to thrive and global developmental delay |
Diseases related to Combined Oxidative Phosphorylation Deficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 9:
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Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:32 (show all 9)
Symptoms via clinical synopsis from OMIM:57Clinical 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 9:41
Liver,
Heart
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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): - 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 9:74
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Search
GEO
for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 9.
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