GFND2
MCID: GLM015
MIFTS: 22

Glomerulopathy with Fibronectin Deposits 2 (GFND2) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Glomerulopathy with Fibronectin Deposits 2

Aliases & Descriptions for Glomerulopathy with Fibronectin Deposits 2:

Name: Glomerulopathy with Fibronectin Deposits 2 54 50 24 66 29 13 69
Fibronectin Glomerulopathy 50 24 25 56 66
Glomerulopathy with Fibronectin Deposits 25 56 69
Familial Glomerular Nephritis with Fibronectin Deposits 25 66
Glomerulopathy with Giant Fibrillar Deposits 25 69
Familial Lobular Glomerulopathy 25 69
Gfnd2 50 66
Gfnd 25 56
Glomerular Nephritis, Familial, with Fibronectin Deposits 24
Glomerular Nephritis Familial with Fibronectin Deposits 50

Characteristics:

Orphanet epidemiological data:

56
fibronectin glomerulopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

HPO:

32
glomerulopathy with fibronectin deposits 2:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 601894
Orphanet 56 ORPHA84090
ICD10 via Orphanet 34 N07.6
MedGen 40 C1866075

Summaries for Glomerulopathy with Fibronectin Deposits 2

OMIM : 54 Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized... (601894) more...

MalaCards based summary : Glomerulopathy with Fibronectin Deposits 2, also known as fibronectin glomerulopathy, is related to glomerulopathy with fibronectin deposits 1 and nephrotic syndrome, and has symptoms including hypertension, renal insufficiency and proteinuria. An important gene associated with Glomerulopathy with Fibronectin Deposits 2 is FN1 (Fibronectin 1). Affiliated tissues include kidney.

Genetics Home Reference : 25 Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease).

UniProtKB/Swiss-Prot : 66 Glomerulopathy with fibronectin deposits 2: 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.

Related Diseases for Glomerulopathy with Fibronectin Deposits 2

Diseases in the Glomerulopathy with Fibronectin Deposits 2 family:

Glomerulopathy with Fibronectin Deposits 1

Diseases related to Glomerulopathy with Fibronectin Deposits 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glomerulopathy with fibronectin deposits 1 11.5
2 nephrotic syndrome 9.7

Symptoms & Phenotypes for Glomerulopathy with Fibronectin Deposits 2

Symptoms by clinical synopsis from OMIM:

601894

Clinical features from OMIM:

601894

Human phenotypes related to Glomerulopathy with Fibronectin Deposits 2:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 56 32 Very frequent (99-80%) HP:0000822
2 renal insufficiency 56 32 Very frequent (99-80%) HP:0000083
3 proteinuria 56 32 Very frequent (99-80%) HP:0000093
4 nephrotic syndrome 56 32 Very frequent (99-80%) HP:0000100
5 glomerulopathy 56 32 Very frequent (99-80%) HP:0100820
6 cerebral hemorrhage 56 32 Occasional (29-5%) HP:0001342
7 edema of the lower limbs 56 32 Very frequent (99-80%) HP:0010741
8 hypoalbuminemia 56 32 Very frequent (99-80%) HP:0003073
9 microscopic hematuria 56 32 Very frequent (99-80%) HP:0002907
10 mesangial abnormality 56 32 Very frequent (99-80%) HP:0001966
11 renal cell carcinoma 32 HP:0005584
12 stage 5 chronic kidney disease 32 HP:0003774
13 generalized distal tubular acidosis 32 HP:0004916

Drugs & Therapeutics for Glomerulopathy with Fibronectin Deposits 2

Search Clinical Trials , NIH Clinical Center for Glomerulopathy with Fibronectin Deposits 2

Genetic Tests for Glomerulopathy with Fibronectin Deposits 2

Genetic tests related to Glomerulopathy with Fibronectin Deposits 2:

id Genetic test Affiliating Genes
1 Glomerulopathy with Fibronectin Deposits 2 29 24 FN1

Anatomical Context for Glomerulopathy with Fibronectin Deposits 2

MalaCards organs/tissues related to Glomerulopathy with Fibronectin Deposits 2:

39
Kidney

Publications for Glomerulopathy with Fibronectin Deposits 2

Variations for Glomerulopathy with Fibronectin Deposits 2

UniProtKB/Swiss-Prot genetic disease variations for Glomerulopathy with Fibronectin Deposits 2:

66
id Symbol AA change Variation ID SNP ID
1 FN1 p.Tyr973Cys VAR_043918 rs137854488
2 FN1 p.Trp1834Arg VAR_043919 rs137854486
3 FN1 p.Leu1883Arg VAR_043920 rs137854487

ClinVar genetic disease variations for Glomerulopathy with Fibronectin Deposits 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FN1 NM_212482.2(FN1): c.5773T> A (p.Trp1925Arg) single nucleotide variant Pathogenic rs137854486 GRCh37 Chromosome 2, 216241335: 216241335
2 FN1 NM_212482.2(FN1): c.5921T> G (p.Leu1974Arg) single nucleotide variant Pathogenic rs137854487 GRCh37 Chromosome 2, 216240408: 216240408
3 FN1 NM_212482.2(FN1): c.2918A> G (p.Tyr973Cys) single nucleotide variant Pathogenic rs137854488 GRCh37 Chromosome 2, 216271029: 216271029
4 FN1 NM_212482.2(FN1): c.5921T> C (p.Leu1974Pro) single nucleotide variant Pathogenic rs137854487 GRCh37 Chromosome 2, 216240408: 216240408
5 FN1 NM_212482.2(FN1): c.5775G> C (p.Trp1925Cys) single nucleotide variant Pathogenic rs869025198 GRCh37 Chromosome 2, 216241333: 216241333
6 FN1 NM_212482.2(FN1): c.4414_4416delCCT (p.Pro1472del) deletion Pathogenic rs869025199 GRCh37 Chromosome 2, 216251608: 216251610

Expression for Glomerulopathy with Fibronectin Deposits 2

Search GEO for disease gene expression data for Glomerulopathy with Fibronectin Deposits 2.

Pathways for Glomerulopathy with Fibronectin Deposits 2

GO Terms for Glomerulopathy with Fibronectin Deposits 2

Sources for Glomerulopathy with Fibronectin Deposits 2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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