GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS
LOBULAR GLOMERULOPATHY, FAMILIAL
GFND1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 137950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
(HPO:0002907) Microscopic hematuria 27 / 7739
3
(HPO:0000100) Nephrotic syndrome 83 / 7739
4
(HPO:0000083) Renal insufficiency 232 / 7739
5
(HPO:0000093) Proteinuria 169 / 7739
6
(OMIM) Enlarged glomeruli 3 / 7739
7
(OMIM) Hypertension due to renal disease 2 / 7739
8
(OMIM) Mesangial, transmembranous, subepithelial, and subendothelial fibrillar deposits which show immunoreactivity to fibronectin 1 / 7739
9
(OMIM) Renal tubular acidosis type IV 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Tuttle et al. (1987) described a father and 4 sons with an unusual lobular glomerulopathy. Electron microscopic examination showed extensive mesangial and subendothelial deposits of amorphous electron-dense material. The 64-year-old father (of 10 children) had asymptomatic proteinuria. He ...
Molecular genetics OMIM - Exclusion of Candidate Genes

By haplotype analysis with microsatellite markers spanning an interval of more than 56 cM on chromosome 2q34, Hildebrandt et al. (1996) excluded the fibronectin, villin (VIL; 193040), and desmin (DES; 125660) ...