MCID: CNG116
MIFTS: 28

Congenital Nephrotic Syndrome Finnish Type 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 45
Nphs1 45 47
Finnish Congenital Nephrotic Syndrome 65
Nephrosis 1, Congenital, Finnish Type 45
 
Congenital Nephrotic Syndrome 1 45
Finnish Congenital Nephrosis 45
Nephrosis, Congenital 45
Cnf 45

Classifications:



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UMLS65 C0403399

Summaries for Congenital Nephrotic Syndrome Finnish Type

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NIH Rare Diseases:45 Congenital nephrotic syndrome of finnish type is a genetic condition of the kidney that presents in utero or within the first three months of life. the syndrome is characterized by nephrotic syndrome (a group of symptoms including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling), which progresses rapidly to end-stage kidney disease.  although more commonly seen in individuals of finnish descent, congenital nephrotic syndrome of finnish type has been reported worldwide. congenital nephrotic syndrome of finnish type is inherited in an autosomal recessive fashion and is caused by mutations in a gene called nphs1. at this time, kidney transplantation seems to be the only treatment available for this condition. last updated: 8/31/2009

MalaCards based summary: Congenital Nephrotic Syndrome Finnish Type, also known as nphs1, is related to nephrotic syndrome, type 1 and pfeiffer syndrome type 3. 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 Cell junction organization. Affiliated tissues include kidney, endothelial and heart, and related mouse phenotypes are renal/urinary system and cardiovascular 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 32)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 111.3
2pfeiffer syndrome type 310.5NPHS1, NPHS2
3autosomal recessive myogenic arthrogryposis multiplex congenita10.5CD2AP, NPHS1
4glomus tympanicum tumor10.4CD2AP, NPHS2
5mixed cerebral palsy10.3AFP, NPHS1
6paraphimosis10.3AFP, WT1
7heart fibrosarcoma10.3AFP, WT1
8ossifying fibroma10.2NPHS1, NPHS2
9spastic hemiplegia10.2CD2AP, NPHS1, NPHS2
10sarcomatoid mesothelioma10.2AFP, WT1
11epithelioid trophoblastic tumor10.2AFP, CD2AP
12nasopharyngeal carcinoma 210.2CD2AP, NPHS1, NPHS2
13testicular cancer10.2AFP, WT1
14muscular dystrophy-dystroglycanopathy , type a, 110.2CD2AP, NPHS2
15corneal dystrophy, fuchs endothelial, 810.2ACTN4, NPHS1, NPHS2
16diffuse neonatal hemangiomatosis10.2NPHS1, NPHS2, WT1
17nephrotic syndrome, type 410.1CD2AP, NPHS1, WT1
18epidermolysis bullosa dystrophica10.1NPHS1, NPHS2, WT1
19ovarian gonadoblastoma10.1AFP, WT1
20nephrotic syndrome10.1
21orbit embryonal rhabdomyosarcoma10.1AFP, WT1
22antiphospholipid syndrome9.9NPHS1, NPHS2
23hyperuricemia9.9AFP, WT1
24suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.9CD2AP, NPHS1, NPHS2, WT1
25radial hemimelia9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
26fecal incontinence9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
27meacham syndrome9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
28follicular lymphoma9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
29limb ischemia9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
30hyperbiliverdinemia9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
31coronary artery vasospasm8.7ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, WT1
32congenital nonhemolytic jaundice6.7ACHE, 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 for Congenital Nephrotic Syndrome Finnish Type

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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:

33
Kidney, Endothelial, Heart

Animal Models for Congenital Nephrotic Syndrome Finnish Type or affiliated genes

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MGI Mouse Phenotypes related to Congenital Nephrotic Syndrome Finnish Type:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, WT1
2MP:00053857.9ACTN4, CD2AP, LPL, NPHS2, TJP1, WT1
3MP:00053766.3ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL
4MP:00053786.2ACHE, ACTN4, CD2AP, KIRREL, LPL, NPHS2
5MP:00107685.7ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL

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
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999

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.

Pathways for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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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
1protein complexGO:00432349.7ACTN4, CD2AP, NPHS2
2cell-cell junctionGO:00059119.2CD2AP, KIRREL, NPHS2
3extracellular exosomeGO:00700628.7CD2AP, KIRREL, NPHS1, NPHS2

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of actin filament polymerizationGO:00308389.4KIRREL, NPHS1

Sources for Congenital Nephrotic Syndrome Finnish Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet