mitochondrial pyruvate carrier deficiency - Ontology Report

ONTOLOGY REPORT - ANNOTATIONS

Term:	mitochondrial pyruvate carrier deficiency	go back to main search page
Accession:	DOID:0080363	browse the term
Definition:	A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)
Synonyms:	exact_synonym:	MPYCD
	primary_id:	OMIM:614741
	alt_id:	RDO:9000572
	xref:	ORDO:447784
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Genes (1)

Symbol

Object Name

JBrowse

Chr

Start

Stop

Reference

Mpc1

mitochondrial pyruvate carrier 1

53,026,608

53,038,229

Term paths to the root

Path 1
Term	Annotations
disease	15620
Nutritional and Metabolic Diseases	4374
disease of metabolism	4374
mitochondrial metabolism disease	307
mitochondrial pyruvate carrier deficiency	1
Path 2
Term	Annotations
disease	15620
Developmental Diseases	8739
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	7521
genetic disease	7009
monogenic disease	4562
autosomal genetic disease	3515
autosomal recessive disease	1981
mitochondrial pyruvate carrier deficiency	1

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

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