MCID: GLM014
MIFTS: 16

Glomerulopathy with Fibronectin Deposits 1

Categories: Rare diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Glomerulopathy with Fibronectin Deposits 1

MalaCards integrated aliases for Glomerulopathy with Fibronectin Deposits 1:

Name: Glomerulopathy with Fibronectin Deposits 1 54 50 13
Glomerulopathy with Giant Fibrillar Deposits 50 69
Gfnd1 50

Characteristics:

OMIM:

54
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:

32
glomerulopathy with fibronectin deposits 1:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Glomerulopathy with Fibronectin Deposits 1

OMIM : 54
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 proteinuria, hypertension and nephrotic syndrome. 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:

id Related Disease Score Top Affiliating Genes
1 glomerulopathy with fibronectin deposits 2 11.3

Symptoms & Phenotypes for Glomerulopathy with Fibronectin Deposits 1

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
renal failure
proteinuria
nephrotic syndrome
end-stage renal disease
microscopic hematuria
more
Cardiovascular- Vascular:
hypertension due to renal disease


Clinical features from OMIM:

137950

Human phenotypes related to Glomerulopathy with Fibronectin Deposits 1:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 hypertension 32 HP:0000822
3 nephrotic syndrome 32 HP:0000100
4 microscopic hematuria 32 HP:0002907
5 nephropathy 32 HP:0000112
6 glomerulopathy 32 HP:0100820
7 stage 5 chronic kidney disease 32 HP:0003774
8 lobular glomerulopathy 32 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:

39
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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