ZFIN Human Disease: mitochondrial DNA depletion syndrome 15

OBO ID: DOID:0080337

Term Name:	mitochondrial DNA depletion syndrome 15		Search Ontology:
Synonyms:
Definition:	A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (4)
References:	OMIM:617156
Ontology:	Human Disease ( DOID:0080337 )

Relationships

is a type of:	autosomal recessive disease mitochondrial DNA depletion syndrome autosomal recessive disease mitochondrial DNA depletion syndrome Show first 5 Terms

OTHER mitochondrial DNA depletion syndrome 15 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TFAM	tfam	?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	617156

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None