MCID: ISL082
MIFTS: 20
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Isolated Atp Synthase Deficiency
Categories:
Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Isolated Atp Synthase Deficiency:
Name: Isolated Atp Synthase Deficiency
58
Characteristics:Orphanet epidemiological data:58
isolated atp synthase deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile; Classifications:
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Isolated Atp Synthase Deficiency, also known as isolated mitochondrial respiratory chain complex v deficiency, is related to mitochondrial complex v deficiency, nuclear type 2 and tmem70 defect. An important gene associated with Isolated Atp Synthase Deficiency is TMEM70 (Transmembrane Protein 70), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinson disease.
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Articles related to Isolated Atp Synthase Deficiency:
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ClinVar genetic disease variations for Isolated Atp Synthase Deficiency:6
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Search
GEO
for disease gene expression data for Isolated Atp Synthase Deficiency.
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Pathways related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:
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Cellular components related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:
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