ORPHA:746
Mitochondrial trifunctional protein deficiency
Synonyms: TFP deficiency · TFPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial trifunctional protein deficiency | TFP deficiency · TFPD |
| fr | Déficit en protéine trifonctionnelle mitochondriale | Déficit en TFP · TFPD |
| de | Defekt des mitochondrialen trifunktionalen Proteins | MTP (mitochondriales trifunktionales Protein)-Mangel · TFP-Mangel · TFPD |
| es | Deficiencia de proteína trifuncional mitocondrial | Deficiencia de TFP · TFPD |
| it | Deficit della proteina trifunzionale mitocondriale | Deficit di TFP · TFPD |
| nl | Deficiëntie van mitochondriaal trifunctioneel proteïne | MTP-deficiëntie · MTPD · TFP-deficiëntie · TFPD |
| pt | Deficiência de proteína trifuncional mitocondrial | |
| pl | Niedobór mitochondrialnego trójfunkcyjnego kompleksu białkowego | Niedobór TFP · TFPD |
| cs | Deficit mitochondriálního trifunkčního proteinu | Deficit TFP · TFPD |
| uk | Дефіцит мітохондріального трифункціонального білка | Дефіцит ТФП · TFPD |
| zh | 线粒体三功能蛋白缺乏症 | TFP缺乏 |
| tr | Mitokondriyal üç işlevli protein eksikliği | TFPD · TFP eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609015 | BTNT | validated | |
| OMIM | 620300 | BTNT | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0012172 | E | validated | |
| MeSH | C566945 | E | validated | |
| UMLS | C1969443 | E | validated | |
| GARD | 3684 | E | validated | |
| MedDRA | 10077949 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:309115Disorder of fatty acid oxidation and ketogenesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217591Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HADHA | Disease-causing germline mutation(s) in | Assessed | HGNC:4801 | ENSG00000084754 | 600890 | 2p23.3 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| HADHB | Disease-causing germline mutation(s) in | Assessed | HGNC:4803 | ENSG00000138029 | 143450 | 2p23.3 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET_22000755[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_22000755[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
46 annotations · validated 2019-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001284 | Areflexia | |
| HP:0003546 | Exercise intolerance | |
| HP:0003201 | Rhabdomyolysis | |
| Frequent (79-30%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0100626 | Chronic hepatic failure | |
| HP:0001635 | Congestive heart failure | |
| HP:0011808 | Decreased patellar reflex | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0006555 | Diffuse hepatic steatosis | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002901 | Hypocalcemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001254 | Lethargy | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002033 | Poor suck | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0003756 | Skeletal myopathy | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0003487 | Babinski sign | |
| HP:0001396 | Cholestasis | |
| HP:0001259 | Coma | |
| HP:0008110 | Equinovarus deformity | |
| HP:0008138 | Equinus calcaneus | |
| HP:0002359 | Frequent falls | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001270 | Motor delay | |
| HP:0003326 | Myalgia | |
| HP:0001761 | Pes cavus | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0002878 | Respiratory failure | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
| HP:0030051 | Tip-toe gait | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0007067 | Distal peripheral sensory neuropathy | |
| HP:0002476 | Primitive reflex | |
| HP:0025145 | Rigors | |
| HP:0007141 | Sensorimotor neuropathy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28515471[PMID]_28649548[PMID]_19880769[PMID]_19699128[PMID]_12838198[PMID]_28685493[PMID]_875757[PMID]_1401059[PMID]_1445348[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/746
- This record as JSON: /data/d/746.json