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COXPD2
MCID: CMB013
MIFTS: 29
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Combined Oxidative Phosphorylation Deficiency 2 (COXPD2)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 2:
Characteristics:Orphanet epidemiological data:58
combined oxidative phosphorylation defect type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth genetic heterogeneity (see coxpd1, ) HPO:31
combined oxidative phosphorylation deficiency 2:
Inheritance autosomal recessive inheritance heterogeneous Onset and clinical course congenital onset Classifications:
ICD10:
33
Orphanet: 58
Inborn errors of metabolism |
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UniProtKB/Swiss-Prot :
72
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, also known as coxpd2, is related to combined oxidative phosphorylation deficiency and neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy. An important gene associated with Combined Oxidative Phosphorylation Deficiency 2 is MRPS16 (Mitochondrial Ribosomal Protein S16), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver, and related phenotypes are agenesis of corpus callosum and abnormal facial shape Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2. |
Diseases related to Combined Oxidative Phosphorylation Deficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 2:
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Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:610498 (Updated 20-May-2021)GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 2:40
Liver
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Articles related to Combined Oxidative Phosphorylation Deficiency 2:
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Genes related to Combined Oxidative Phosphorylation Deficiency 2 (2 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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Biological processes related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:
Molecular functions related to Combined Oxidative Phosphorylation Deficiency 2 according to GeneCards Suite gene sharing:
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