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mitochondrial trifunctional protein deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0111277
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003756 | Skeletal myopathy |
| HP:0005180 | Tricuspid regurgitation |
| HP:0006555 | Diffuse hepatic steatosis |
| HP:0007067 | Distal peripheral sensory neuropathy |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007340 | Lower limb muscle weakness |
| HP:0008110 | Equinovarus deformity |
| HP:0008138 | Equinus calcaneus |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009063 | Progressive distal muscle weakness |
