CNF
MCID: CNG116
MIFTS: 28

Congenital Nephrotic Syndrome Finnish Type (CNF) malady

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

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Aliases & Descriptions for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 48
Nphs1 48 50
Finnish Congenital Nephrotic Syndrome 68
Nephrosis 1, Congenital, Finnish Type 48
 
Congenital Nephrotic Syndrome 1 48
Finnish Congenital Nephrosis 48
Nephrosis, Congenital 48
Cnf 48

Classifications:



Summaries for Congenital Nephrotic Syndrome Finnish Type

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NIH Rare Diseases:48 Congenital nephrotic syndrome finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. the syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. although more commonly seen in individuals of finnish descent, congenital nephrotic syndrome finnish type has been reported worldwide. congenital nephrotic syndrome finnish type is caused by mutations in the nphs1 gene and is inherited in an autosomal recessive manner. at this time, kidney transplantation seems to be the only treatment available for this condition. last updated: 12/6/2016

MalaCards based summary: Congenital Nephrotic Syndrome Finnish Type, also known as nphs1, is related to nephrotic syndrome, type 1 and pauci-immune glomerulonephritis, and has symptoms including edema An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (NPHS1, Nephrin), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Cytoskeletal Signaling. Affiliated tissues include kidney, and related mouse phenotypes are cardiovascular system and renal/urinary system.

Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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Diseases related to Congenital Nephrotic Syndrome Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 111.2
2pauci-immune glomerulonephritis10.2NPHS1, NPHS2
3renal agenesis, unilateral10.2CD2AP, NPHS2
4nephrotic syndrome10.2
5aphthous stomatitis10.2NPHS1, NPHS2
6transient pseudohypoaldosteronism10.2NPHS1, WT1
7muscular dystrophy-dystroglycanopathy , type b, 110.1CD2AP, NPHS2
8hypertrichosis of eyelid10.1NPHS1, NPHS2
9central nervous system endodermal sinus tumor10.1AFP, WT1
10sick sinus syndrome 310.1CD2AP, NPHS1, NPHS2
11small cell carcinoma10.1AFP, NPHS1
12flying phobia10.1AFP, WT1
13hemiplegia10.1CD2AP, NPHS1, NPHS2
14petrous apex meningioma10.1AFP, WT1
15glaucoma 1, open angle, e10.1ACTN4, NPHS1, NPHS2
16biliary cirrhosis, primary, 210.1CD2AP, NPHS1, NPHS2
17hypothyroidism, congenital, nongoitrous, 310.1ACTN4, NPHS1, NPHS2
18persian gulf syndrome10.1AFP, WT1
19diprosopia10.1NPHS1, NPHS2, WT1
20familial nephrotic syndrome10.1NPHS1, NPHS2, WT1
21epidermolysis bullosa, junctional, non-herlitz type10.1ACHE, AFP
22pneumonia10.0AFP, WT1
23sex differentiation disease10.0AFP, WT1
24craniofaciofrontodigital syndrome10.0ACHE, AFP
25frasier syndrome10.0CD2AP, NPHS1, NPHS2, WT1
26spindle cell rhabdomyosarcoma9.9AFP, WT1
27focal segmental glomerulosclerosis9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
28deafness, autosomal recessive 519.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
29acral persistent papular mucinosis9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
30gastric cancer9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
31cerebral cavernous malformations-29.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
32lung giant cell carcinoma9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
33malignant hyperthermia susceptibility 19.5ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, WT1
34transient refractive change9.5ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, WT1
35congenital torticollis8.7ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL

Graphical network of the top 20 diseases related to Congenital Nephrotic Syndrome Finnish Type:



Diseases related to congenital nephrotic syndrome finnish type

Symptoms & Phenotypes for Congenital Nephrotic Syndrome Finnish Type

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UMLS symptoms related to Congenital Nephrotic Syndrome Finnish Type:


edema

MGI Mouse Phenotypes related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.7ACTN4, CD2AP, LPL, NPHS2, TJP1, WT1
2MP:00053677.4ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, TJP1
3MP:00053787.4ACHE, ACTN4, CD2AP, KIRREL, LPL, NPHS2
4MP:00053766.6ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL
5MP:00107686.5ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Nephrotic Syndrome Finnish Type

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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MalaCards organs/tissues related to Congenital Nephrotic Syndrome Finnish Type:

36
Kidney

Publications for Congenital Nephrotic Syndrome Finnish Type

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Articles related to Congenital Nephrotic Syndrome Finnish Type:

idTitleAuthorsYear
1
Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type. (19309778)
2009
2
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type. (18846635)
2008
3
Congenital nephrotic syndrome, Finnish type: sonographic appearance and pathologic correlation. (14606567)
2003
4
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999
5
Congenital nephrotic syndrome (Finnish type). (2992230)
1985
6
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid. (6207521)
1984

Variations for Congenital Nephrotic Syndrome Finnish Type

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Expression for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Search GEO for disease gene expression data for Congenital Nephrotic Syndrome Finnish Type.

GO Terms for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Cellular components related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:00360579.9NPHS1, NPHS2
2cell-cell junctionGO:00059118.8ACTN4, CD2AP, KIRREL, NPHS2, TJP1
3perinuclear region of cytoplasmGO:00484718.6ACHE, ACTN4, CD2AP, KIRREL

Biological processes related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.2NPHS1, WT1
2excretionGO:00075889.5KIRREL, NPHS1, NPHS2
3positive regulation of actin filament polymerizationGO:00308389.4KIRREL, NPHS1

Molecular functions related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.2KIRREL, NPHS1
2carboxylic ester hydrolase activityGO:005268910.2ACHE, LPL
3protein bindingGO:00055155.8ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL

Sources for Congenital Nephrotic Syndrome Finnish Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet