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Mitochondrial trifunctional protein deficiency
1 OMIM reference -
2 associated genes
56 connected diseases
No signs/symptoms info
Disease Type of connection
Acute fatty liver of pregnancy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
46,XY partial gonadal dysgenesis
46,XY complete gonadal dysgenesis
Amyotrophic lateral sclerosis
Common variable immunodeficiency
Leber congenital amaurosis
Senior-Loken syndrome
Precursor T-cell acute lymphoblastic leukemia
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Autosomal dominant hypohidrotic ectodermal dysplasia
Burkitt lymphoma
Autosomal recessive spastic paraplegia type 20
Fibronectin glomerulopathy
Intermittent hydrarthrosis
TRAPS syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Huntington disease
Hypoplastic left heart syndrome
Isolated sulfite oxidase deficiency
Juvenile Huntington disease
Multiple endocrine neoplasia type 1
Oculodentodigital dysplasia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Syndactyly type 3
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
X-linked Emery-Dreifuss muscular dystrophy
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal dominant macrothrombocytopenia
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Desminopathy
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
STT3B-CDG
Scapuloperoneal amyotrophy
Synonym(s):
- TFP deficiency
- TFPD
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D024741
Gene symbol UniProt reference OMIM reference
HADHA P40939600890
HADHB P55084143450
No signs/symptoms info available.