Glomerulopathy with fibronectin deposits 2

Preferred Label : Glomerulopathy with fibronectin deposits 2;

Symbol : GFND2;

CISMeF acronym : GFND2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerular nephritis, familial, with fibronectin deposits; Fibronectin glomerulopathy;

Description : Glomerulopathy with fibronectin deposits 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 (Castelletti et al., 2008). For a discussion of genetic heterogeneity of GFND, see 137950.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibronectin 1 gene (FN1, 135600.0001);

Prefixed ID : #601894;

Détails

Origin ID

601894;

UMLS CUI

C1866075;

Automatic exact mappings (from CISMeF team)
- FN1 wt Allele [NCIt concept]
- Glomerulopathy with Fibronectin Deposits-2 [NCIt concept]
- fibronectin 1 [ORDO Gene]
- fibronectin 1 [HGNC gene]
Broader ORDO disease(s)
- Fibronectin glomerulopathy [ORDO Disease]
CISMeF manual mappings
- Fibronectin glomerulopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Fibronectin glomerulopathy [ICD-11 Category]
- Glomerulopathy with fibronectin deposits [MeSH concept]
- Glomerulopathy with fibronectin deposits 2 (disorder) [SNOMED CT concept]
- glomerulopathy with fibronectin deposits [MeSH Supplementary Concept]
- glomerulopathy with fibronectin deposits 2 [MeSH concept]
Genes related to phenotype
- Fibronectin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Generalized distal tubular acidosis [HPO term]
- Glomerulopathy [HPO term]
- Hypertension [HPO term]
- Microscopic hematuria [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Renal cell carcinoma [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)
- Fibronectin glomerulopathy [ORDO Disease]
- Glomerulopathy with Fibronectin Deposits-2 [NCIt concept]
- Glomerulopathy with fibronectin deposits [MeSH concept]
- Glomerulopathy with fibronectin deposits 2 (disorder) [SNOMED CT concept]
- glomerulopathy with fibronectin deposits 2 [MeSH concept]
Validated automatic mappings to NTBT
- Fibronectin glomerulopathy (disorder) [SNOMED CT concept]

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