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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
10 signs/symptoms
Mitochondrial trifunctional protein deficiency
Fibronectin glomerulopathy

HADHA FN1
HADHB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HADHA
(0.72)
FN1



Citations in the biomedical literature:


Mitochondrial trifunctional protein deficiency
HADHA HADHB
Fibronectin glomerulopathy
FN1



Mitochondrial trifunctional protein deficiency
Fibronectin glomerulopathy

Synonym(s):
- TFP deficiency
- TFPD

Synonym(s):
- GFND
- Glomerulopathy with fibronectin deposits

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the genitourinary 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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D024741
External references:
2 OMIM references -
No MeSH references

Fibronectin glomerulopathy

Very frequent
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Edema of the legs / lower limbs
- Functional anomalies of the kidney and the urinary tract
- Hematuria / microhematuria
- Nephrotic syndrome
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy

Occasional
- Intracranial / cerebral / meningeal hemorrhage


Mitochondrial trifunctional protein deficiency

(no data available)