ZFIN Human Disease: mitochondrial trifunctional protein deficiency

OBO ID: DOID:0111277

Term Name:	mitochondrial trifunctional protein deficiency		Search Ontology:
Synonyms:	MTPD TFP deficiency TFPD
Definition:	A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (3)
References:	GARD:3684 MESH:C566945 NCI:C98991 OMIM:609015 ORDO:746 SNOMEDCT_US_2023_03_01:237999008 UMLS_CUI:C1969443
Ontology:	Human Disease ( DOID:0111277 )

Relationships

is a type of:	autosomal recessive disease lipid metabolism disorder autosomal recessive disease lipid metabolism disorder Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HADHA	hadhaa hadhab	Mitochondrial trifunctional protein deficiency 1	609015

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None