Details of Disease

General Information of Disease (ID: DISKTESP)

Disease Name Fibronectin glomerulopathy
Synonyms
lobular glomerulopathy, familial; GFND1; glomerulopathy with fibronectin deposits 2; GFND2; glomerular nephritis, familial, with fibronectin deposits; glomerulopathy with fibronectin deposits 1; glomerulopathy with giant fibrillar deposits; GFND; fibronectin glomerulopathy; glomerulopathy with fibronectin deposits
Definition
A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.|Editor note: consider splitting out type 1, and also separate class for giant subtype
Disease Hierarchy
DISNCQLA: Inherited kidney disorder
DISQAMHM: Glomerular disorder
DISKTESP: Fibronectin glomerulopathy
Disease Identifiers
MONDO ID
MONDO_0007671
MESH ID
C536826
UMLS CUI
C3888104
MedGen ID
854773
Orphanet ID
84090
SNOMED CT ID
818952002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FN1 TTPJ921 Supportive Autosomal dominant [1]
FN1 TTPJ921 Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FN1 OTB5ZN4Q Supportive Autosomal dominant [1]
CFHR5 OT7BMOYE Definitive Biomarker [3]
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References

1 Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2538-43. doi: 10.1073/pnas.0707730105. Epub 2008 Feb 11.
2 A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.BMC Nephrol. 2019 Aug 16;20(1):322. doi: 10.1186/s12882-019-1507-7.
3 Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.