GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2

General Information (adopted from Orphanet):

Synonyms, Signs: FIBRONECTIN GLOMERULOPATHY
GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS
GFND2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 601894
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:0100820) Glomerulopathy 46 / 7739
2
(HPO:0002907) Microscopic hematuria 27 / 7739
3
(HPO:0000100) Nephrotic syndrome 83 / 7739
4
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
5
(HPO:0000083) Renal insufficiency 232 / 7739
6
(HPO:0004916) Generalized distal tubular acidosis 1 / 7739
7
(HPO:0005584) Renal cell carcinoma 13 / 7739
8
(HPO:0000093) Proteinuria 169 / 7739
9
(HPO:0000822) Hypertension 224 / 7739
10
(OMIM) Enlarged glomeruli 3 / 7739
11
(HPO:0003677) Slow progression 134 / 7739
12
(OMIM) Hypertension due to renal disease 2 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Mesangial and subendothelial granular or fibrillar deposits which show immunoreactivity to fibronectin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Mazzucco et al. (1992) described an Italian mother and daughter with slowly progressive nephrotic syndrome. Proteinuria was first detected at ages 25 and 11 years, respectively. Renal biopsy from both patients showed similar glomerular changes, including marked widening ...
Molecular genetics OMIM In affected individuals from 6 unrelated families with GFND2, Castelletti et al. (2008) identified heterozygous mutations in the FN1 gene (135600.0001-135600.0003). Four of the families had previously been reported by Mazzucco et al. (1992), Strom et al. (1995), ...