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COXPD9
MCID: CMB043
MIFTS: 21
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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
:
75
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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss, 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 related phenotypes are failure to thrive and global developmental delay
Description from OMIM:
614582
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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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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614582Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:32 (show all 9)
UMLS 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
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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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UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:75
ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:6
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Search
GEO
for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 9.
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