ODCs

Cytoscape Web

Click node...

Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Pyruvate dehydrogenase E3 deficiency

1 OMIM reference -
1 associated gene
11 signs/symptoms

Fibronectin glomerulopathy

Pyruvate dehydrogenase E3 deficiency

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Fibronectin glomerulopathy		Pyruvate dehydrogenase E3 deficiency
	Synonym(s): - GFND - Glomerulopathy with fibronectin deposits		Synonym(s): - DLD deficiency - Dihydrolipoamide dehydrogenase deficiency - E3-deficient maple syrup urine disease

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

Fibronectin glomerulopathy		Pyruvate dehydrogenase E3 deficiency
	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		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Organic acid metabolism anomalies Frequent - Abnormal gait - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Movement disorder Occasional - Hepatocellular liver disease / hepatic failure - Hypoglycemia