MCID: GLM014
MIFTS: 18

Glomerulopathy with Fibronectin Deposits 1

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Glomerulopathy with Fibronectin Deposits 1

MalaCards integrated aliases for Glomerulopathy with Fibronectin Deposits 1:

Name: Glomerulopathy with Fibronectin Deposits 1 53 49 13
Glomerulopathy with Giant Fibrillar Deposits 53 49 69
Gfnd1 53 49
Lobular Glomerulopathy, Familial 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of proteinuria in the third to fourth decades
onset of end-stage renal disease 15 to 20 years after onset
slow progression


HPO:

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


Classifications:



Summaries for Glomerulopathy with Fibronectin Deposits 1

OMIM : 53 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)

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

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 10.9

Symptoms & Phenotypes for Glomerulopathy with Fibronectin Deposits 1

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
hypertension due to renal disease

Genitourinary Kidneys:
proteinuria
microscopic hematuria
nephrotic syndrome
renal failure
end-stage renal disease
more

Clinical features from OMIM:

137950

Human phenotypes related to Glomerulopathy with Fibronectin Deposits 1:

31 (show all 8)
# 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 lobular glomerulopathy 31 HP:0008636

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:

38
Kidney

Publications for Glomerulopathy with Fibronectin Deposits 1

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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