Glomerulopathy with fibronectin deposits 1

Preferred Label : Glomerulopathy with fibronectin deposits 1;

Symbol : GFND1;

CISMeF acronym : GFND1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Glomerulopathy with giant fibrillar deposits; Lobular glomerulopathy, familial;

Description : Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008). - Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q34.;

Inheritance : Autosomal dominant;

Prefixed ID : %137950;

Details

Origin ID

137950;

UMLS CUI

C0403557;

Automatic exact mappings (from CISMeF team)
- glomerulopathy with giant fibrillar deposits [MeSH concept]
- glomerulopathy with giant fibrillar deposits [MeSH Supplementary Concept]
False automatic mappings
- Familial lobular glomerulopathy (disorder) [SNOMED CT concept]
- Glomerulopathy with giant fibrillar deposits (disorder) [SNOMED CT concept]
HPO term(s)
- Acidosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Glomerulopathy [HPO term]
- Hypertension [HPO term]
- Lobular glomerulopathy [HPO term]
- Microscopic hematuria [HPO term]
- Nephropathy [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Slowly progressive [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Fibronectin glomerulopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glomerulopathy with giant fibrillar deposits (disorder) [SNOMED CT concept]
- glomerulopathy with giant fibrillar deposits [MeSH Supplementary Concept]
- glomerulopathy with giant fibrillar deposits [MeSH concept]

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