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MCID: CMB013
MIFTS: 22
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Combined Oxidative Phosphorylation Deficiency 2
Categories:
Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 2:
Characteristics:Orphanet epidemiological data:59
combined oxidative phosphorylation defect type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth genetic heterogeneity (see coxpd1, ) HPO:32
combined oxidative phosphorylation deficiency 2:
Onset and clinical course congenital onset Inheritance heterogeneous autosomal recessive inheritance Classifications:
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Combined oxidative phosphorylation deficiency 2: A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.
MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 2, is also known as coxpd2. An important gene associated with Combined Oxidative Phosphorylation Deficiency 2 is MRPS16 (Mitochondrial Ribosomal Protein S16). Affiliated tissues include skin, liver and testes, and related phenotypes are low-set ears and agenesis of corpus callosum
Description from OMIM:
610498
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610498Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:32 (show all 16)
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MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 2:41
Skin,
Liver,
Testes
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Genes related to Combined Oxidative Phosphorylation Deficiency 2 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 2:6
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Search
GEO
for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 2.
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