COXPD25
MCID: CMB063
MIFTS: 21
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Combined Oxidative Phosphorylation Deficiency 25 (COXPD25)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 25:
Characteristics:Orphanet epidemiological data:58
combined oxidative phosphorylation defect type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth two sibs have been reported (last curated june 2015) HPO:31
combined oxidative phosphorylation deficiency 25:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Ear diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Combined oxidative phosphorylation deficiency 25: A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.
MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 25, is also known as coxpd25. An important gene associated with Combined Oxidative Phosphorylation Deficiency 25 is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are hypertelorism and global developmental delay Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1. |
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Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616430 (Updated 05-Mar-2021) |
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Articles related to Combined Oxidative Phosphorylation Deficiency 25:
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ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:6
UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:73
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Search
GEO
for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 25.
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