ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
10 signs/symptoms

Pyruvate dehydrogenase E1-beta deficiency

Fibronectin glomerulopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDHB	(0.72)	FN1

Citations in the biomedical literature:

Pyruvate dehydrogenase E1-beta deficiency		Fibronectin glomerulopathy
	Synonym(s): - PDHBD - Pyruvate dehydrogenase complex E1 component subunit beta deficiency		Synonym(s): - GFND - Glomerulopathy with fibronectin deposits

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the genitourinary system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: child / adolescent 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 - No MeSH references		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
Pyruvate dehydrogenase E1-beta deficiency
(no data available)