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

Aliases & Descriptions for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 50
Nphs1 50 52
Nephrosis 1, Congenital, Finnish Type 50
Finnish Congenital Nephrotic Syndrome 69
Congenital Nephrotic Syndrome 1 50
Finnish Congenital Nephrosis 50
Nephrosis, Congenital 50
Cnf 50

Classifications:



Summaries for Congenital Nephrotic Syndrome Finnish Type

NIH Rare Diseases : 50 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/superpathways are Cell junction organization and Cytoskeletal Signaling. Affiliated tissues include kidney, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 11.2
2 pauci-immune glomerulonephritis 10.2 NPHS1 NPHS2
3 renal agenesis, unilateral 10.2 CD2AP NPHS2
4 nephrotic syndrome 10.2
5 aphthous stomatitis 10.2 NPHS1 NPHS2
6 transient pseudohypoaldosteronism 10.2 NPHS1 WT1
7 muscular dystrophy-dystroglycanopathy , type b, 1 10.1 CD2AP NPHS2
8 hypertrichosis of eyelid 10.1 NPHS1 NPHS2
9 central nervous system endodermal sinus tumor 10.1 AFP WT1
10 sick sinus syndrome 3 10.1 CD2AP NPHS1 NPHS2
11 small cell carcinoma 10.1 AFP NPHS1
12 flying phobia 10.1 AFP WT1
13 hemiplegia 10.1 CD2AP NPHS1 NPHS2
14 petrous apex meningioma 10.1 AFP WT1
15 glaucoma 1, open angle, e 10.1 ACTN4 NPHS1 NPHS2
16 biliary cirrhosis, primary, 2 10.1 CD2AP NPHS1 NPHS2
17 hypothyroidism, congenital, nongoitrous, 3 10.1 ACTN4 NPHS1 NPHS2
18 persian gulf syndrome 10.1 AFP WT1
19 diprosopia 10.1 NPHS1 NPHS2 WT1
20 familial nephrotic syndrome 10.1 NPHS1 NPHS2 WT1
21 epidermolysis bullosa, junctional, non-herlitz type 10.1 ACHE AFP
22 pneumonia 10.0 AFP WT1
23 sex differentiation disease 10.0 AFP WT1
24 craniofaciofrontodigital syndrome 10.0 ACHE AFP
25 frasier syndrome 10.0 CD2AP NPHS1 NPHS2 WT1
26 spindle cell rhabdomyosarcoma 9.9 AFP WT1
27 focal segmental glomerulosclerosis 9.8 ACTN4 CD2AP NPHS1 NPHS2 WT1
28 deafness, autosomal recessive 51 9.8 ACTN4 CD2AP NPHS1 NPHS2 WT1
29 acral persistent papular mucinosis 9.8 ACTN4 CD2AP NPHS1 NPHS2 WT1
30 gastric cancer 9.8 ACTN4 CD2AP NPHS1 NPHS2 WT1
31 cerebral cavernous malformations-2 9.8 ACTN4 CD2AP NPHS1 NPHS2 WT1
32 lung giant cell carcinoma 9.8 ACTN4 CD2AP NPHS1 NPHS2 WT1
33 malignant hyperthermia susceptibility 1 9.5 ACTN4 CD2AP KIRREL NPHS1 NPHS2 WT1
34 transient refractive change 9.5 ACTN4 CD2AP KIRREL NPHS1 NPHS2 WT1
35 congenital torticollis 8.7 ACHE 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

UMLS symptoms related to Congenital Nephrotic Syndrome Finnish Type:


edema

MGI Mouse Phenotypes related to Congenital Nephrotic Syndrome Finnish Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 ACHE ACTN4 CD2AP KIRREL LPL NPHS2
2 homeostasis/metabolism MP:0005376 9.85 ACHE ACTN4 AFP CD2AP KIRREL LPL
3 cardiovascular system MP:0005385 9.8 WT1 ACTN4 CD2AP LPL NPHS2 TJP1
4 mortality/aging MP:0010768 9.65 ACHE ACTN4 AFP CD2AP KIRREL LPL
5 renal/urinary system MP:0005367 9.17 CD2AP KIRREL NPHS1 NPHS2 TJP1 WT1

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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

39
Kidney

Publications for Congenital Nephrotic Syndrome Finnish Type

Articles related to Congenital Nephrotic Syndrome Finnish Type:

id Title Authors Year
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

ClinVar genetic disease variations for Congenital Nephrotic Syndrome Finnish Type:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 NPHS1 NPHS1, 2-BP DEL, 121CT deletion Pathogenic
2 NPHS1 NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs137853042 GRCh37 Chromosome 19, 36322260: 36322260
3 NPHS1 NPHS1, 2-BP INS, 1306AC insertion Pathogenic
4 NPHS1 NPHS1, 1-BP INS, 3250G insertion Pathogenic
5 NPHS1 NPHS1, 1-BP DEL, 1481C deletion Pathogenic
6 NPHS1 NPHS1, 1-BP DEL, 3250G deletion Pathogenic
7 NPHS1 NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter) single nucleotide variant Pathogenic rs267606919 GRCh37 Chromosome 19, 36321958: 36321958
8 NPHS1 NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg) single nucleotide variant Pathogenic rs267606917 GRCh37 Chromosome 19, 36340185: 36340185
9 NPHS1 NM_004646.3(NPHS1): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs267606918 GRCh37 Chromosome 19, 36333323: 36333323
10 NPHS1 NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs) deletion Pathogenic rs386833873 GRCh37 Chromosome 19, 36342511: 36342512
11 NPHS1 NM_004646.3(NPHS1): c.1715G> A (p.Ser572Asn) single nucleotide variant Pathogenic/Likely pathogenic rs386833889 GRCh37 Chromosome 19, 36336613: 36336613
12 NPHS1 NM_004646.3(NPHS1): c.1868G> T (p.Cys623Phe) single nucleotide variant Pathogenic/Likely pathogenic rs386833895 GRCh37 Chromosome 19, 36336332: 36336332
13 NPHS1 NM_004646.3(NPHS1): c.3250dupG (p.Val1084Glyfs) duplication Pathogenic/Likely pathogenic rs386833936 GRCh37 Chromosome 19, 36322581: 36322581
14 NPHS1 NM_004646.3(NPHS1): c.468C> G (p.Tyr156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833943 GRCh37 Chromosome 19, 36341921: 36341921
15 NPHS1 NM_004646.3(NPHS1): c.532C> T (p.Gln178Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833951 GRCh37 Chromosome 19, 36341342: 36341342
16 NPHS1 NM_004646.3(NPHS1): c.1756A> G (p.Arg586Gly) single nucleotide variant Pathogenic rs730880174 GRCh38 Chromosome 19, 35845670: 35845670
17 NPHS1 NM_004646.3(NPHS1): c.2335-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs150038620 GRCh38 Chromosome 19, 35842551: 35842551
18 NPHS1 NM_004646.3(NPHS1): c.2847_2853delTGTGAGT (p.Val950Terfs) deletion Pathogenic rs886042517 GRCh37 Chromosome 19, 36330472: 36330478

Expression for Congenital Nephrotic Syndrome Finnish Type

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

Pathways for Congenital Nephrotic Syndrome Finnish Type

GO Terms for Congenital Nephrotic Syndrome Finnish Type

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

id Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.46 ACHE ACTN4 CD2AP KIRREL
2 cell-cell junction GO:0005911 9.02 ACTN4 CD2AP KIRREL NPHS2 TJP1
3 slit diaphragm GO:0036057 8.96 NPHS1 NPHS2

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of actin filament polymerization GO:0030838 9.16 KIRREL NPHS1
2 glomerular basement membrane development GO:0032836 8.96 NPHS1 WT1
3 excretion GO:0007588 8.8 KIRREL NPHS1 NPHS2

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.65 ACHE ACTN4 AFP CD2AP KIRREL LPL
2 carboxylic ester hydrolase activity GO:0052689 9.16 ACHE LPL
3 myosin binding GO:0017022 8.62 KIRREL NPHS1

Sources for Congenital Nephrotic Syndrome Finnish Type

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
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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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