MCID: CNG116
MIFTS: 37

Congenital Nephrotic Syndrome Finnish Type malady

Rare diseases, Nephrological diseases categories

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

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Sources:
45NIH Rare Diseases, 51Orphanet, 47Novoseek, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 45
Congenital Nephrotic Syndrome, Finnish Type 51 24
Finnish Congenital Nephrosis 45 51
Nphs1 45 47
Nephrosis 1, Congenital, Finnish Type 45
 
Finnish Congenital Nephrotic Syndrome 65
Congenital Nephrotic Syndrome 1 45
Nephrosis, Congenital 45
Cnf 45


Classifications:

Orphanet: 51 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

51
congenital nephrotic syndrome, finnish type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

Orphanet51 839
ICD10 via Orphanet28 N04
MESH via Orphanet37 C535761
UMLS via Orphanet66 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 congenital nephrotic syndrome, finnish type, is related to nephrotic syndrome and nephrotic syndrome, type 1, and has symptoms including multicystic kidney/renal dysplasia, nephrotic syndrome and proteinuria. An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (Nephrosis 1, Congenital, Finnish Type (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 renal/urinary system and growth/size/body.

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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome10.5
2nephrotic syndrome, type 110.3
3glomerulosclerosis, focal segmental, 110.3
4breast cancer10.3
5pfeiffer syndrome type 310.2NPHS1, NPHS2
6focal segmental glomerulosclerosis10.2
7glomerulosclerosis10.2
8autosomal recessive myogenic arthrogryposis multiplex congenita10.2CD2AP, NPHS1
9funisitis10.1AFP, NPHS1
10testicular malignant germ cell cancer10.1AFP, WT1
11antiphospholipid syndrome10.1NPHS1, NPHS2
12vulvar keratinizing squamous cell carcinoma10.1AFP, WT1
13glomus tympanicum tumor10.1CD2AP, NPHS1, NPHS2
14spastic hemiplegia10.1CD2AP, NPHS1, NPHS2
15epididymis adenomatoid tumor10.1AFP, WT1
16corneal dystrophy, fuchs endothelial, 810.1ACTN4, NPHS1, NPHS2
17membranous nephropathy10.1CD2AP, NPHS1, NPHS2
18incontinentia pigmenti achromians10.1AFP, WT1
19diffuse neonatal hemangiomatosis10.1NPHS1, NPHS2, WT1
20mixed germ cell-sex cord neoplasm10.0AFP, WT1
21glycogen storage disease due to lactate dehydrogenase deficiency10.0ACTN4, NPHS2, WT1
22epidermolysis bullosa dystrophica10.0NPHS1, NPHS2, WT1
23nail-patella syndrome10.0CD2AP, NPHS2
24nephrotic syndrome, type 210.0
25nephrotic syndrome, type 5, with or without ocular abnormalities10.0
26nephrotic syndrome, type 310.0
27nephrotic syndrome, type 410.0
28nephrotic syndrome, type 610.0
29coenzyme q10 deficiency, primary, 610.0
30nephrotic syndrome, type 710.0
31nephrotic syndrome, type 910.0
32glomerulonephritis10.0
33membranous glomerulonephritis10.0
34amyloidosis10.0
35dystonia10.0
36athetosis10.0
37glomerular disease10.0
38ovarian gonadoblastoma10.0AFP, WT1
39botulism10.0AFP, WT1
40denys-drash syndrome9.9CD2AP, NPHS1, NPHS2, WT1
41benign breast adenomyoepithelioma9.9CD2AP, NPHS1, NPHS2, WT1
42sex differentiation disease9.9AFP, WT1
43suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
44radial hemimelia9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
45fecal incontinence9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
46frasier syndrome9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
47glomus tumor9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
48follicular lymphoma9.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
49wilms tumor susceptibility-59.8ACTN4, CD2AP, NPHS1, NPHS2, WT1
50nerve compression syndrome9.5ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, WT1

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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Symptoms:

 51
  • multicystic kidney/renal dysplasia
  • nephrotic syndrome
  • proteinuria
  • autosomal recessive inheritance

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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Genetic tests related to Congenital Nephrotic Syndrome Finnish Type:

id Genetic test Affiliating Genes
1 Finnish Congenital Nephrotic Syndrome24

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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

33
Kidney

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:00053678.0ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, WT1
2MP:00053787.0ACHE, ACTN4, CD2AP, KIRREL, LPL, NPHS2
3MP:00107686.3ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL
4MP:00053766.3ACHE, 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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Clinvar genetic disease variations for Congenital Nephrotic Syndrome Finnish Type:

5 (show all 126)
id Gene Variation Type Significance SNP ID Assembly Location
1NPHS1NM_004646.3(NPHS1): c.1756A> G (p.Arg586Gly)single nucleotide variantPathogenicrs730880174GRCh38Chr 19, 35845670: 35845670
2NPHS1NM_004646.3(NPHS1): c.3388-1G> Asingle nucleotide variantLikely pathogenicrs730880176GRCh38Chr 19, 35831147: 35831147
3NPHS1NM_004646.3(NPHS1): c.2335-1G> Asingle nucleotide variantLikely pathogenicrs150038620GRCh38Chr 19, 35842551: 35842551
4NPHS1NM_004646.3(NPHS1): c.2928G> T (p.Arg976Ser)single nucleotide variantLikely pathogenicrs138656762GRCh38Chr 19, 35839418: 35839418
5NPHS1NM_004646.3(NPHS1): c.565G> T (p.Glu189Ter)single nucleotide variantLikely pathogenicrs139598219GRCh38Chr 19, 35850407: 35850407
6NPHS1NM_004646.3(NPHS1): c.3442C> T (p.Gln1148Ter)single nucleotide variantLikely pathogenicrs150855173GRCh37Chr 19, 36321994: 36321994
7NPHS1NM_004646.3(NPHS1): c.3312-1G> Asingle nucleotide variantLikely pathogenicrs786204729GRCh38Chr 19, 35831372: 35831372
8NM_004646.3(NPHS1): c.-475_-468delGAGAGAGAdeletionLikely pathogenicrs386833860GRCh37Chr 19, 36343207: 36343214
9NPHS1NM_004646.3(NPHS1): c.1019C> A (p.Pro340His)single nucleotide variantLikely pathogenicrs386833861GRCh37Chr 19, 36339690: 36339690
10NPHS1NM_004646.3(NPHS1): c.1040G> A (p.Gly347Glu)single nucleotide variantLikely pathogenicrs386833862GRCh37Chr 19, 36339669: 36339669
11NPHS1NM_004646.3(NPHS1): c.1048T> C (p.Ser350Pro)single nucleotide variantLikely pathogenicrs386833863GRCh37Chr 19, 36339661: 36339661
12NPHS1NM_004646.3(NPHS1): c.1096A> C (p.Ser366Arg)single nucleotide variantLikely pathogenicrs386833864GRCh37Chr 19, 36339613: 36339613
13NPHS1NM_004646.3(NPHS1): c.1099C> T (p.Arg367Cys)single nucleotide variantLikely pathogenicrs386833865GRCh37Chr 19, 36339610: 36339610
14NPHS1NM_004646.3(NPHS1): c.1100G> A (p.Arg367His)single nucleotide variantLikely pathogenicrs200905486GRCh37Chr 19, 36339609: 36339609
15NPHS1NM_004646.3(NPHS1): c.1102C> T (p.Pro368Ser)single nucleotide variantLikely pathogenicrs386833866GRCh37Chr 19, 36339607: 36339607
16NPHS1NM_004646.3(NPHS1): c.1103C> T (p.Pro368Leu)single nucleotide variantLikely pathogenicrs386833867GRCh37Chr 19, 36339606: 36339606
17NPHS1NM_004646.3(NPHS1): c.1126C> G (p.Leu376Val)single nucleotide variantLikely pathogenicrs386833868GRCh37Chr 19, 36339583: 36339583
18NPHS1NM_004646.3(NPHS1): c.1134G> A (p.Trp378Ter)single nucleotide variantLikely pathogenicrs386833869GRCh37Chr 19, 36339575: 36339575
19NPHS1NM_004646.3(NPHS1): c.1135C> T (p.Arg379Trp)single nucleotide variantLikely pathogenicrs386833871GRCh37Chr 19, 36339574: 36339574
20NPHS1NM_004646.3(NPHS1): c.1135_1136delCG (p.Arg379Alafs)deletionLikely pathogenicrs386833870GRCh37Chr 19, 36339573: 36339574
21NPHS1NM_004646.3(NPHS1): c.1138C> T (p.Gln380Ter)single nucleotide variantLikely pathogenicrs386833872GRCh37Chr 19, 36339571: 36339571
22NPHS1NM_004646.3(NPHS1): c.1219C> T (p.Arg407Trp)single nucleotide variantLikely pathogenicrs386833874GRCh37Chr 19, 36339251: 36339251
23NPHS1NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs)deletionPathogenicrs386833873GRCh37Chr 19, 36342511: 36342512
24NPHS1NM_004646.3(NPHS1): c.1234G> T (p.Gly412Cys)single nucleotide variantLikely pathogenicrs142008044GRCh37Chr 19, 36339236: 36339236
25NPHS1NM_004646.3(NPHS1): c.1250G> T (p.Cys417Phe)single nucleotide variantLikely pathogenicrs386833875GRCh37Chr 19, 36339220: 36339220
26NPHS1NM_004646.3(NPHS1): c.1275delC (p.Lys426Argfs)deletionLikely pathogenicrs386833876GRCh37Chr 19, 36339195: 36339195
27NPHS1NM_004646.3(NPHS1): c.1292dupA (p.Ser432Valfs)duplicationLikely pathogenicrs386833877GRCh37Chr 19, 36339178: 36339178
28NPHS1NM_004646.3(NPHS1): c.1307_1308dupAC (p.Val437Thrfs)duplicationLikely pathogenicrs386833878GRCh37Chr 19, 36339162: 36339163
29NPHS1NM_004646.3(NPHS1): c.1337T> A (p.Ile446Asn)single nucleotide variantLikely pathogenicrs386833879GRCh37Chr 19, 36339046: 36339046
30NPHS1NM_004646.3(NPHS1): c.1379G> A (p.Arg460Gln)single nucleotide variantLikely pathogenicrs386833880GRCh37Chr 19, 36339004: 36339004
31NPHS1NM_004646.3(NPHS1): c.1394G> A (p.Cys465Tyr)single nucleotide variantLikely pathogenicrs386833881GRCh37Chr 19, 36338989: 36338989
32NPHS1NM_004646.3(NPHS1): c.139delG (p.Ala47Profs)deletionLikely pathogenicrs386833882GRCh37Chr 19, 36342494: 36342494
33NPHS1NM_004646.3(NPHS1): c.1481delC (p.Ser494Cysfs)deletionLikely pathogenicrs386833883GRCh37Chr 19, 36337056: 36337056
34NPHS1NM_004646.3(NPHS1): c.1555C> T (p.Pro519Ser)single nucleotide variantLikely pathogenicrs386833884GRCh37Chr 19, 36336982: 36336982
35NPHS1NM_004646.3(NPHS1): c.1583G> T (p.Cys528Phe)single nucleotide variantLikely pathogenicrs386833885GRCh37Chr 19, 36336954: 36336954
36NPHS1NM_004646.3(NPHS1): c.1672C> T (p.Arg558Cys)single nucleotide variantLikely pathogenicrs386833886GRCh37Chr 19, 36336656: 36336656
37NPHS1NM_004646.3(NPHS1): c.1701C> A (p.Cys567Ter)single nucleotide variantLikely pathogenicrs386833887GRCh37Chr 19, 36336627: 36336627
38NPHS1NM_004646.3(NPHS1): c.1707C> G (p.Ser569Arg)single nucleotide variantLikely pathogenicrs386833888GRCh37Chr 19, 36336621: 36336621
39NPHS1NM_004646.3(NPHS1): c.1715G> A (p.Ser572Asn)single nucleotide variantLikely pathogenicrs386833889GRCh37Chr 19, 36336613: 36336613
40NPHS1NM_004646.3(NPHS1): c.1724C> A (p.Pro575Gln)single nucleotide variantLikely pathogenicrs386833890GRCh37Chr 19, 36336604: 36336604
41NPHS1NM_004646.3(NPHS1): c.1758-15_1778deldeletionLikely pathogenicrs386833891GRCh37Chr 19, 36336422: 36336457
42NPHS1NM_004646.3(NPHS1): c.1760T> G (p.Leu587Arg)single nucleotide variantLikely pathogenicrs386833892GRCh37Chr 19, 36336440: 36336440
43NPHS1NM_004646.3(NPHS1): c.1801G> C (p.Gly601Arg)single nucleotide variantLikely pathogenicrs386833893GRCh37Chr 19, 36336399: 36336399
44NPHS1NM_004646.3(NPHS1): c.1829T> A (p.Leu610Gln)single nucleotide variantLikely pathogenicrs386833894GRCh37Chr 19, 36336371: 36336371
45NPHS1NM_004646.3(NPHS1): c.1868G> T (p.Cys623Phe)single nucleotide variantLikely pathogenicrs386833895GRCh37Chr 19, 36336332: 36336332
46NPHS1NM_004646.3(NPHS1): c.1905C> T (p.Ser635=)single nucleotide variantLikely pathogenicrs386833896GRCh37Chr 19, 36336295: 36336295
47NPHS1NM_004646.3(NPHS1): c.191G> C (p.Trp64Ser)single nucleotide variantLikely pathogenicrs386833897GRCh37Chr 19, 36342442: 36342442
48NPHS1NM_004646.3(NPHS1): c.1928T> C (p.Leu643Pro)single nucleotide variantLikely pathogenicrs386833898GRCh37Chr 19, 36336272: 36336272
49NPHS1NM_004646.3(NPHS1): c.1954C> T (p.Gln652Ter)single nucleotide variantLikely pathogenicrs386833899GRCh37Chr 19, 36335338: 36335338
50NPHS1NM_004646.3(NPHS1): c.2019C> A (p.Asn673Lys)single nucleotide variantLikely pathogenicrs191807913GRCh37Chr 19, 36335273: 36335273
51NPHS1NM_004646.3(NPHS1): c.2043G> T (p.Trp681Cys)single nucleotide variantLikely pathogenicrs386833900GRCh37Chr 19, 36335249: 36335249
52NPHS1NM_004646.3(NPHS1): c.2071+2T> Csingle nucleotide variantLikely pathogenicrs386833901GRCh37Chr 19, 36335219: 36335219
53NPHS1NM_004646.3(NPHS1): c.2072-6C> Gsingle nucleotide variantLikely pathogenicrs200253809GRCh37Chr 19, 36335151: 36335151
54NPHS1NM_004646.3(NPHS1): c.2126T> G (p.Val709Gly)single nucleotide variantLikely pathogenicrs386833902GRCh37Chr 19, 36335091: 36335091
55NPHS1NM_004646.3(NPHS1): c.2156_2163delTGCACTGC (p.Leu719Profs)deletionLikely pathogenicrs386833903GRCh37Chr 19, 36335054: 36335061
56NPHS1NM_004646.3(NPHS1): c.2160dupC (p.Cys721Leufs)duplicationLikely pathogenicrs386833904GRCh37Chr 19, 36335057: 36335057
57NPHS1NM_004646.3(NPHS1): c.2171C> G (p.Ser724Cys)single nucleotide variantLikely pathogenicrs386833905GRCh37Chr 19, 36335046: 36335046
58NPHS1NM_004646.3(NPHS1): c.2172_2173delTG (p.Glu725Glyfs)deletionLikely pathogenicrs386833906GRCh37Chr 19, 36335044: 36335045
59NPHS1NM_004646.3(NPHS1): c.2216C> T (p.Ala739Val)single nucleotide variantLikely pathogenicrs386833907GRCh37Chr 19, 36334492: 36334492
60NPHS1NM_004646.3(NPHS1): c.2225T> C (p.Ile742Thr)single nucleotide variantLikely pathogenicrs386833908GRCh37Chr 19, 36334483: 36334483
61NPHS1NM_004646.3(NPHS1): c.2227C> T (p.Arg743Cys)single nucleotide variantLikely pathogenicrs386833909GRCh37Chr 19, 36334481: 36334481
62NPHS1NM_004646.3(NPHS1): c.2227delC (p.Arg743Valfs)deletionLikely pathogenicrs386833910GRCh37Chr 19, 36334481: 36334481
63NPHS1NM_004646.3(NPHS1): c.2404C> T (p.Arg802Trp)single nucleotide variantLikely pathogenicrs386833911GRCh37Chr 19, 36333383: 36333383
64NPHS1NM_004646.3(NPHS1): c.2405G> C (p.Arg802Pro)single nucleotide variantLikely pathogenicrs114203578GRCh37Chr 19, 36333382: 36333382
65NPHS1NM_004646.3(NPHS1): c.2417C> A (p.Ala806Asp)single nucleotide variantLikely pathogenicrs386833912GRCh37Chr 19, 36333370: 36333370
66NPHS1NM_004646.3(NPHS1): c.2442C> G (p.Tyr814Ter)single nucleotide variantLikely pathogenicrs386833913GRCh37Chr 19, 36333345: 36333345
67NPHS1NM_004646.3(NPHS1): c.248dupA (p.Tyr83Terfs)duplicationLikely pathogenicrs386833914GRCh37Chr 19, 36342385: 36342385
68NPHS1NM_004646.3(NPHS1): c.2491C> T (p.Arg831Cys)single nucleotide variantLikely pathogenicrs386833915GRCh37Chr 19, 36333296: 36333296
69NPHS1NM_004646.3(NPHS1): c.2495T> C (p.Leu832Pro)single nucleotide variantLikely pathogenicrs386833916GRCh37Chr 19, 36333292: 36333292
70NPHS1NM_004646.3(NPHS1): c.2500G> T (p.Val834Phe)single nucleotide variantLikely pathogenicrs386833917GRCh37Chr 19, 36333287: 36333287
71NPHS1NM_004646.3(NPHS1): c.2515delC (p.Gln839Argfs)deletionLikely pathogenicrs386833918GRCh37Chr 19, 36333174: 36333174
72NPHS1NM_004646.3(NPHS1): c.2548_2557delGCTGCAGCTG (p.Ala850Glufs)deletionLikely pathogenicrs386833919GRCh37Chr 19, 36333132: 36333141
73NPHS1NM_004646.3(NPHS1): c.2596C> T (p.Arg866Ter)single nucleotide variantLikely pathogenicrs386833920GRCh37Chr 19, 36333093: 36333093
74NPHS1NM_004646.3(NPHS1): c.2606_2607dupCC (p.Asn870Profs)duplicationLikely pathogenicrs386833921GRCh37Chr 19, 36333082: 36333083
75NPHS1NM_004646.3(NPHS1): c.2618_2620delTCAinsCC (p.Phe873Serfs)indelLikely pathogenicrs386833922GRCh37Chr 19, 36333069: 36333071
76NPHS1NM_004646.3(NPHS1): c.2625G> A (p.Trp875Ter)single nucleotide variantLikely pathogenicrs386833923GRCh37Chr 19, 36333064: 36333064
77NPHS1NM_004646.3(NPHS1): c.2664-4_2670delCTAGGTACACGdeletionLikely pathogenicrs386833924GRCh37Chr 19, 36332762: 36332772
78NPHS1NM_004646.3(NPHS1): c.2769_2775delCAACGCC (p.Asn924Leufs)deletionLikely pathogenicrs386833925GRCh37Chr 19, 36332657: 36332663
79NPHS1NM_004646.3(NPHS1): c.2783C> A (p.Ser928Ter)single nucleotide variantLikely pathogenicrs386833926GRCh37Chr 19, 36332649: 36332649
80NPHS1NM_004646.3(NPHS1): c.2815+5G> Asingle nucleotide variantLikely pathogenicrs386833927GRCh37Chr 19, 36332612: 36332612
81NPHS1NM_004646.3(NPHS1): c.2816-4_2822delATAGGCCGCCCdeletionLikely pathogenicrs386833928GRCh37Chr 19, 36330503: 36330513
82NPHS1NM_004646.3(NPHS1): c.286C> G (p.Leu96Val)single nucleotide variantLikely pathogenicrs386833929GRCh37Chr 19, 36342275: 36342275
83NPHS1NM_004646.3(NPHS1): c.2927+1G> Asingle nucleotide variantLikely pathogenicrs386833930GRCh37Chr 19, 36330397: 36330397
84NPHS1NM_004646.3(NPHS1): c.2944dupA (p.Thr982Asnfs)duplicationLikely pathogenicrs386833931GRCh37Chr 19, 36330304: 36330304
85NPHS1NM_004646.3(NPHS1): c.313G> A (p.Asp105Asn)single nucleotide variantLikely pathogenicrs386833932GRCh37Chr 19, 36342248: 36342248
86NPHS1NM_004646.3(NPHS1): c.319G> A (p.Ala107Thr)single nucleotide variantLikely pathogenicrs386833933GRCh37Chr 19, 36342242: 36342242
87NPHS1NM_004646.3(NPHS1): c.320C> T (p.Ala107Val)single nucleotide variantLikely pathogenicrs386833934GRCh37Chr 19, 36342241: 36342241
88NPHS1NM_004646.3(NPHS1): c.3250delG (p.Val1084Serfs)deletionLikely pathogenicrs386833935GRCh37Chr 19, 36322581: 36322581
89NPHS1NM_004646.3(NPHS1): c.3250dupG (p.Val1084Glyfs)duplicationLikely pathogenicrs386833936GRCh37Chr 19, 36322581: 36322581
90NPHS1NM_004646.3(NPHS1): c.3356_3357dupGG (p.Thr1120Glyfs)duplicationLikely pathogenicrs386833937GRCh37Chr 19, 36322228: 36322229
91NPHS1NM_004646.3(NPHS1): c.3388-2A> Gsingle nucleotide variantLikely pathogenicrs386833938GRCh37Chr 19, 36322050: 36322050
92NPHS1NM_004646.3(NPHS1): c.3418C> T (p.Arg1140Cys)single nucleotide variantLikely pathogenicrs143092783GRCh37Chr 19, 36322018: 36322018
93NPHS1NM_004646.3(NPHS1): c.3482G> T (p.Gly1161Val)single nucleotide variantLikely pathogenicrs386833939GRCh37Chr 19, 36321858: 36321858
94NPHS1NM_004646.3(NPHS1): c.3595-2A> Gsingle nucleotide variantLikely pathogenicrs386833940GRCh37Chr 19, 36317549: 36317549
95NPHS1NM_004646.3(NPHS1): c.3720_*9del16deletionLikely pathogenicrs386833941GRCh37Chr 19, 36317407: 36317422
96NPHS1NM_004646.3(NPHS1): c.398-1G> Asingle nucleotide variantLikely pathogenicrs386833942GRCh37Chr 19, 36341992: 36341992
97NPHS1NM_004646.3(NPHS1): c.468C> G (p.Tyr156Ter)single nucleotide variantLikely pathogenicrs386833943GRCh37Chr 19, 36341921: 36341921
98NPHS1NM_004646.3(NPHS1): c.479G> C (p.Cys160Ser)single nucleotide variantLikely pathogenicrs386833944GRCh37Chr 19, 36341910: 36341910
99NPHS1NM_004646.3(NPHS1): c.500C> T (p.Pro167Leu)single nucleotide variantLikely pathogenicrs386833945GRCh37Chr 19, 36341889: 36341889
100NPHS1NM_004646.3(NPHS1): c.512T> A (p.Ile171Asn)single nucleotide variantLikely pathogenicrs386833946GRCh37Chr 19, 36341877: 36341877
101NPHS1NM_004646.3(NPHS1): c.515_517delCCA (p.Thr172del)deletionLikely pathogenicrs386833947GRCh37Chr 19, 36341872: 36341874
102NPHS1NM_004646.3(NPHS1): c.516delC (p.Ile173Phefs)deletionLikely pathogenicrs386833948GRCh37Chr 19, 36341873: 36341873
103NPHS1NM_004646.3(NPHS1): c.518T> A (p.Ile173Asn)single nucleotide variantLikely pathogenicrs386833949GRCh37Chr 19, 36341871: 36341871
104NPHS1NM_004646.3(NPHS1): c.526+5G> Csingle nucleotide variantLikely pathogenicrs386833950GRCh37Chr 19, 36341858: 36341858
105NPHS1NM_004646.3(NPHS1): c.532C> T (p.Gln178Ter)single nucleotide variantLikely pathogenicrs386833951GRCh37Chr 19, 36341342: 36341342
106NPHS1NM_004646.3(NPHS1): c.534delG (p.Thr179Glnfs)deletionLikely pathogenicrs386833952GRCh37Chr 19, 36341340: 36341340
107NPHS1NM_004646.3(NPHS1): c.574C> T (p.Gln192Ter)single nucleotide variantLikely pathogenicrs386833953GRCh37Chr 19, 36341300: 36341300
108NM_004646.3(NPHS1): c.58+1G> Tsingle nucleotide variantLikely pathogenicrs386833954GRCh37Chr 19, 36342681: 36342681
109NPHS1NM_004646.3(NPHS1): c.609-2A> Csingle nucleotide variantLikely pathogenicrs386833955GRCh37Chr 19, 36340557: 36340557
110NPHS1NM_004646.3(NPHS1): c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle)indelLikely pathogenicrs386833956GRCh37Chr 19, 36340543: 36340550
111NPHS1NM_004646.3(NPHS1): c.661_662delAG (p.Ser221Profs)deletionLikely pathogenicrs386833957GRCh37Chr 19, 36340502: 36340503
112NPHS1NM_004646.3(NPHS1): c.692C> A (p.Ser231Ter)single nucleotide variantLikely pathogenicrs386833958GRCh37Chr 19, 36340472: 36340472
113NPHS1NM_004646.3(NPHS1): c.736G> T (p.Glu246Ter)single nucleotide variantLikely pathogenicrs386833959GRCh37Chr 19, 36340242: 36340242
114NPHS1NM_004646.3(NPHS1): c.766C> T (p.Arg256Trp)single nucleotide variantLikely pathogenicrs386833960GRCh37Chr 19, 36340212: 36340212
115NPHS1NM_004646.3(NPHS1): c.808G> T (p.Gly270Cys)single nucleotide variantLikely pathogenicrs386833961GRCh37Chr 19, 36340170: 36340170
116NPHS1NM_004646.3(NPHS1): c.886G> A (p.Ala296Thr)single nucleotide variantLikely pathogenicrs386833962GRCh37Chr 19, 36340004: 36340004
117NPHS1NPHS1, 2-BP DEL, 121CTdeletionPathogenic
118NPHS1NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter)single nucleotide variantPathogenicrs137853042GRCh37Chr 19, 36322260: 36322260
119NPHS1NPHS1, 2-BP INS, 1306ACinsertionPathogenic
120NPHS1NPHS1, 1-BP INS, 3250GinsertionPathogenic
121NPHS1NPHS1, 1-BP DEL, 1481CdeletionPathogenic
122NPHS1NPHS1, 1-BP DEL, 3250GdeletionPathogenic
123NPHS1NM_004646.3(NPHS1): c.2456A> T (p.Asp819Val)single nucleotide variantPathogenicrs387906357GRCh37Chr 19, 36333331: 36333331
124NPHS1NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter)single nucleotide variantPathogenicrs267606919GRCh37Chr 19, 36321958: 36321958
125NPHS1NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg)single nucleotide variantPathogenicrs267606917GRCh37Chr 19, 36340185: 36340185
126NPHS1NM_004646.3(NPHS1): c.2464G> A (p.Val822Met)single nucleotide variantPathogenicrs267606918GRCh37Chr 19, 36333323: 36333323

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
1slit diaphragmGO:003605710.6NPHS1, NPHS2
2perinuclear region of cytoplasmGO:00484718.9ACHE, ACTN4, CD2AP, KIRREL
3cell-cell junctionGO:00059118.5ACTN4, CD2AP, KIRREL, NPHS2, TJP1
4extracellular exosomeGO:00700627.7ACTN4, CD2AP, KIRREL, LPL, NPHS1, NPHS2
5plasma membraneGO:00058866.7ACHE, CD2AP, KIRREL, LPL, NPHS1, NPHS2

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.5NPHS1, WT1
2positive regulation of actin filament polymerizationGO:00308389.4KIRREL, NPHS1
3excretionGO:00075888.9KIRREL, NPHS1, NPHS2

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.4KIRREL, 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