GFND1
MCID: GLM014
MIFTS: 20

Glomerulopathy with Fibronectin Deposits 1 (GFND1)

Categories: Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Glomerulopathy with Fibronectin Deposits 1

MalaCards integrated aliases for Glomerulopathy with Fibronectin Deposits 1:

Name: Glomerulopathy with Fibronectin Deposits 1 57 20 13
Glomerulopathy with Giant Fibrillar Deposits 57 20 70
Gfnd1 57 20
Lobular Glomerulopathy, Familial 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
onset of proteinuria in the third to fourth decades
onset of end-stage renal disease 15 to 20 years after onset

Inheritance:
autosomal dominant


HPO:

31
glomerulopathy with fibronectin deposits 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

OMIM® 57 137950
OMIM Phenotypic Series 57 PS137950
MedGen 41 C0403557
UMLS 70 C0403557

Summaries for Glomerulopathy with Fibronectin Deposits 1

OMIM® : 57 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). (137950) (Updated 05-Apr-2021)

MalaCards based summary : Glomerulopathy with Fibronectin Deposits 1, also known as glomerulopathy with giant fibrillar deposits, is related to glomerulopathy with fibronectin deposits 2. An important gene associated with Glomerulopathy with Fibronectin Deposits 1 is GFND1 (Glomerulopathy With Fibronectin Deposits 1). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

Related Diseases for Glomerulopathy with Fibronectin Deposits 1

Diseases in the Glomerulopathy with Fibronectin Deposits 2 family:

Glomerulopathy with Fibronectin Deposits 1

Diseases related to Glomerulopathy with Fibronectin Deposits 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glomerulopathy with fibronectin deposits 2 11.7

Symptoms & Phenotypes for Glomerulopathy with Fibronectin Deposits 1

Human phenotypes related to Glomerulopathy with Fibronectin Deposits 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 proteinuria 31 HP:0000093
3 nephropathy 31 HP:0000112
4 nephrotic syndrome 31 HP:0000100
5 glomerulopathy 31 HP:0100820
6 stage 5 chronic kidney disease 31 HP:0003774
7 microscopic hematuria 31 HP:0002907
8 acidosis 31 HP:0001941
9 lobular glomerulopathy 31 HP:0008636

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
microscopic hematuria
renal failure
enlarged glomeruli
more
Cardiovascular Vascular:
hypertension due to renal disease

Clinical features from OMIM®:

137950 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glomerulopathy with Fibronectin Deposits 1

Search Clinical Trials , NIH Clinical Center for Glomerulopathy with Fibronectin Deposits 1

Genetic Tests for Glomerulopathy with Fibronectin Deposits 1

Anatomical Context for Glomerulopathy with Fibronectin Deposits 1

MalaCards organs/tissues related to Glomerulopathy with Fibronectin Deposits 1:

40
Kidney

Publications for Glomerulopathy with Fibronectin Deposits 1

Articles related to Glomerulopathy with Fibronectin Deposits 1:

(show all 12)
# Title Authors PMID Year
1
Familial glomerulopathy with giant fibrillar deposits. 57 61
7001730 1980
2
Mutations in FN1 cause glomerulopathy with fibronectin deposits. 57
18268355 2008
3
Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes. 57
10964510 2000
4
The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster. 57
9837825 1998
5
Exclusion of the uteroglobin gene as a candidate for fibronectin glomerulopathy (GFND) 57
9761542 1998
6
Familial lobular glomerulopathy: first case report in Asia. 57
10074583 1998
7
Severe fibronectin-deposit renal glomerular disease in mice lacking uteroglobin. 57
9162006 1997
8
Familial glomerulopathy with giant fibrillar (fibronectin-positive) deposits: 15-year follow-up in a large kindred. 57
9158203 1996
9
Glomerulopathy associated with predominant fibronectin deposits: exclusion of the genes for fibronectin, villin and desmin as causative genes. 57
8723129 1996
10
Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease. 57
7564073 1995
11
Familial lobular glomerulopathy. 57
1869266 1991
12
A unique familial lobular glomerulopathy. 57
2443103 1987

Variations for Glomerulopathy with Fibronectin Deposits 1

Expression for Glomerulopathy with Fibronectin Deposits 1

Search GEO for disease gene expression data for Glomerulopathy with Fibronectin Deposits 1.

Pathways for Glomerulopathy with Fibronectin Deposits 1

GO Terms for Glomerulopathy with Fibronectin Deposits 1

Sources for Glomerulopathy with Fibronectin Deposits 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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