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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001518 | Small for gestational age |
| HP:0001789 | Hydrops fetalis |
| HP:0001263 | Global developmental delay |
| HP:0003198 | Myopathy |
| HP:0011968 | Feeding difficulties |
| HP:0001987 | Hyperammonemia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0002913 | Myoglobinuria |
| HP:0003593 | Infantile onset |
