NPHS1
MCID: NPH055
MIFTS: 50

Nephrotic Syndrome, Type 1 (NPHS1)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrotic Syndrome, Type 1

MalaCards integrated aliases for Nephrotic Syndrome, Type 1:

Name: Nephrotic Syndrome, Type 1 58 13
Finnish Congenital Nephrosis 58 12 60 76
Finnish Congenital Nephrotic Syndrome 30 6 74
Nphs1 58 76 56
Nephrotic Syndrome Type 1 12 15
Nephrosis, Congenital 45 74
Cnf 58 76
Congenital Nephrotic Syndrome of the Finnish Type 76
Congenital Nephrotic Syndrome, Finnish Type 60
Finnish Congenital Nephrosis; Cnf 58
Nephrotic Syndrome, Congenital 58
Congenital Nephrotic Syndrome 76
Nephrotic Syndrome, Type 1 ) 41
Nephrotic Syndrome 1 76

Characteristics:

Orphanet epidemiological data:

60
congenital nephrotic syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in utero
end-stage renal failure in first decade
early death without kidney transplant
not responsive to steroid treatment
some patients may have a milder phenotype
incidence of 12.2 per 100,000 in finland


HPO:

33
nephrotic syndrome, type 1:
Onset and clinical course rapidly progressive congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


Summaries for Nephrotic Syndrome, Type 1

OMIM : 58 The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996). Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998). Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. (256300)

MalaCards based summary : Nephrotic Syndrome, Type 1, also known as finnish congenital nephrosis, is related to focal segmental glomerulosclerosis 1 and nephrotic syndrome, type 6, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 1 is NPHS1 (NPHS1 Adhesion Molecule, Nephrin), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, placenta and ovary, and related phenotypes are proteinuria and nephrotic syndrome

Disease Ontology : 12 A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has material basis in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.

Genetics Home Reference : 26 Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.

UniProtKB/Swiss-Prot : 76 Nephrotic syndrome 1: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.

Wikipedia : 77 Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3... more...

Related Diseases for Nephrotic Syndrome, Type 1

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome, Type 14 Nephrotic Syndrome, Type 15
Nephrotic Syndrome, Type 16 Nephrotic Syndrome, Type 17
Nephrotic Syndrome, Type 18 Nephrotic Syndrome, Type 19
Familial Nephrotic Syndrome

Diseases related to Nephrotic Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 1 33.2 ACTN4 NPHS1
2 nephrotic syndrome, type 6 32.8 NPHS1 NPHS2 WT1
3 membranous nephropathy 32.6 CD2AP NPHS1 NPHS2
4 lipoid nephrosis 32.5 CD2AP NPHS1 NPHS2
5 kidney hypertrophy 32.1 NPHS1 NPHS2
6 end stage renal failure 32.0 NPHS1 NPHS2 WT1
7 nephrosclerosis 32.0 NPHS1 NPHS2
8 galloway-mowat syndrome 32.0 ACTN4 NPHS1 NPHS2
9 focal segmental glomerulosclerosis 31.9 ACTN4 CD2AP CRB2 NPHS1 NPHS2 WT1
10 diffuse mesangial sclerosis 31.9 NPHS1 NPHS2 WT1
11 atrial septal defect 3 31.9 CD2AP NPHS1 NPHS2
12 hypoparathyroidism, sensorineural deafness, and renal disease 31.9 ACTN4 NPHS1 NPHS2
13 urinary system disease 31.8 NPHS1 NPHS2 WT1
14 denys-drash syndrome 31.8 CD2AP NPHS1 NPHS2 WT1
15 familial nephrotic syndrome 31.7 ACTN4 CD2AP CRB2 NPHS1 NPHS2 WT1
16 nephrotic syndrome 31.6 ACTN4 CD2AP KIRREL1 NPHS1 NPHS2 WT1
17 chronic kidney failure 31.6 ACTN4 NPHS1 NPHS2 WT1
18 frasier syndrome 31.5 ACTN4 CD2AP NPHS1 NPHS2 WT1
19 kidney disease 31.2 ACTN4 CD2AP CRB2 NPHS1 NPHS2 WT1
20 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 30.8 ACTN4 CD2AP CRB2 NPHS1 NPHS2 WT1
21 congenital nephrotic syndrome finnish type 12.2
22 pierson syndrome 12.1
23 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.8
24 glomerulonephritis 11.6
25 iga glomerulonephritis 11.5
26 nephrotic syndrome, type 2 11.5
27 athetosis 11.4
28 diabetes mellitus, noninsulin-dependent 11.2
29 membranoproliferative glomerulonephritis 11.2
30 microvascular complications of diabetes 3 11.1
31 analbuminemia 11.1
32 dyskinetic cerebral palsy 11.1
33 acute proliferative glomerulonephritis 11.1
34 microcoria, congenital 11.1
35 nephrotic syndrome, type 4 11.0
36 nephrotic syndrome, type 3 11.0
37 nephrotic syndrome, type 5, with or without ocular abnormalities 11.0
38 coenzyme q10 deficiency, primary, 6 11.0
39 nephrotic syndrome, type 7 11.0
40 nephrotic syndrome, type 9 11.0
41 nephrotic syndrome, type 11 11.0
42 nephrotic syndrome, type 12 11.0
43 nephrotic syndrome, type 14 11.0
44 nephrotic syndrome, type 15 11.0
45 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.3 CD2AP NPHS2
46 testicular granulosa cell tumor 10.2 AFP WT1
47 juvenile type testicular granulosa cell tumor 10.2 AFP WT1
48 male reproductive organ benign neoplasm 10.2 AFP WT1
49 adenomatoid tumor 10.2 AFP WT1
50 sertoli-leydig cell tumor 10.2 AFP WT1

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Type 1:



Diseases related to Nephrotic Syndrome, Type 1

Symptoms & Phenotypes for Nephrotic Syndrome, Type 1

Human phenotypes related to Nephrotic Syndrome, Type 1:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephrotic syndrome 60 33 hallmark (90%) Very frequent (99-80%) HP:0000100
3 delayed eruption of permanent teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000696
4 elevated amniotic fluid alpha-fetoprotein 60 33 hallmark (90%) Very frequent (99-80%) HP:0004639
5 abnormal renal tubule morphology 33 hallmark (90%) HP:0000091
6 hypothyroidism 33 HP:0000821
7 gastroesophageal reflux 33 HP:0002020
8 renal insufficiency 33 HP:0000083
9 edema 33 HP:0000969
10 growth delay 33 HP:0001510
11 abnormality of the renal tubule 60 Very frequent (99-80%)
12 neonatal respiratory distress 33 HP:0002643
13 hyperlipidemia 33 HP:0003077
14 recurrent infections 33 HP:0002719
15 pyloric stenosis 33 HP:0002021
16 abdominal distention 33 HP:0003270
17 hypoalbuminemia 33 HP:0003073
18 hypoproteinemia 33 HP:0003075
19 small for gestational age 33 HP:0001518
20 glomerulosclerosis 33 HP:0000096
21 tubular atrophy 33 HP:0000092
22 diffuse mesangial sclerosis 33 HP:0001967
23 congenital nephrotic syndrome 33 HP:0008677

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Amniotic Fluid:
proteinuria
increased alpha-fetoprotein

Genitourinary Kidneys:
nephrotic syndrome
tubular atrophy
interstitial fibrosis
diffuse mesangial sclerosis
proteinuria, severe
more
Growth Other:
growth retardation

Prenatal Manifestations Delivery:
prematurity

Muscle Soft Tissue:
edema

Laboratory Abnormalities:
hyperlipidemia
hypoalbuminemia

Prenatal Manifestations Placenta And Umbilical Cord:
enlarged placenta

Clinical features from OMIM:

256300

UMLS symptoms related to Nephrotic Syndrome, Type 1:


edema

GenomeRNAi Phenotypes related to Nephrotic Syndrome, Type 1 according to GeneCards Suite gene sharing:

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.7 ALG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.7 AFP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.7 ALG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.7 ACTN4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.7 ALG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.7 ALG1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.7 ALG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.7 ACTN4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.7 ALG1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.7 ALG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 ACTN4 ALG1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.7 ALG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.7 ALG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.7 AFP
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.7 ALG1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.7 ACTN4 ALG1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.7 ACTN4 AFP ALG1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.7 ACTN4
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.7 AFP
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.7 ACTN4

MGI Mouse Phenotypes related to Nephrotic Syndrome, Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.96 ACHE ACTN4 BBS7 CD2AP CRB2 KIRREL1
2 cardiovascular system MP:0005385 9.92 ACTN4 BBS7 CD2AP CRB2 LPL NPHS2
3 homeostasis/metabolism MP:0005376 9.9 ACHE ACTN4 AFP BBS7 CD2AP KIRREL1
4 mortality/aging MP:0010768 9.73 ACHE ACTN4 AFP BBS7 CD2AP CRB2
5 renal/urinary system MP:0005367 9.23 ACTN4 BBS7 CD2AP KIRREL1 NPHS1 NPHS2

Drugs & Therapeutics for Nephrotic Syndrome, Type 1

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 1

Cochrane evidence based reviews: nephrosis, congenital

Genetic Tests for Nephrotic Syndrome, Type 1

Genetic tests related to Nephrotic Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Finnish Congenital Nephrotic Syndrome 30 NPHS1

Anatomical Context for Nephrotic Syndrome, Type 1

MalaCards organs/tissues related to Nephrotic Syndrome, Type 1:

42
Kidney, Placenta, Ovary, Thyroid

Publications for Nephrotic Syndrome, Type 1

Articles related to Nephrotic Syndrome, Type 1:

# Title Authors Year
1
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains. ( 19443487 )
2009
2
A familial childhood-onset relapsing nephrotic syndrome. ( 17290294 )
2007
3
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. ( 11854170 )
2002
4
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. ( 10652016 )
2000
5
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. ( 10577936 )
1999
6
Adequate clinical control of congenital nephrotic syndrome by enalapril. ( 9543371 )
1998
7
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. ( 9660941 )
1998
8
Assembly of a 1-Mb restriction-mapped cosmid contig spanning the candidate region for Finnish congenital nephrosis (NPHS1) in 19q13.1. ( 8661053 )
1996

Variations for Nephrotic Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 1:

76 (show top 50) (show all 63)
# Symbol AA change Variation ID SNP ID
1 NPHS1 p.Trp64Ser VAR_013029 rs386833897
2 NPHS1 p.Ile171Asn VAR_013031 rs386833946
3 NPHS1 p.Ile173Asn VAR_013033 rs386833949
4 NPHS1 p.Gly270Cys VAR_013035 rs386833961
5 NPHS1 p.Ser350Pro VAR_013036 rs386833863
6 NPHS1 p.Ser366Arg VAR_013037 rs386833864
7 NPHS1 p.Arg367Cys VAR_013038 rs386833865
8 NPHS1 p.Pro368Ser VAR_013039 rs386833866
9 NPHS1 p.Leu376Val VAR_013040 rs386833868
10 NPHS1 p.Cys465Tyr VAR_013043 rs386833881
11 NPHS1 p.Cys528Phe VAR_013044 rs386833885
12 NPHS1 p.Leu610Gln VAR_013045 rs386833894
13 NPHS1 p.Cys623Phe VAR_013046 rs386833895
14 NPHS1 p.Ser724Cys VAR_013047 rs386833905
15 NPHS1 p.Arg743Cys VAR_013048 rs386833909
16 NPHS1 p.Arg802Trp VAR_013049 rs386833911
17 NPHS1 p.Arg802Pro VAR_013050 rs114203578
18 NPHS1 p.Ala806Asp VAR_013051 rs386833912
19 NPHS1 p.Asp819Val VAR_013052 rs387906357
20 NPHS1 p.Arg831Cys VAR_013053 rs386833915
21 NPHS1 p.Arg1140Cys VAR_013055 rs143092783
22 NPHS1 p.Leu96Val VAR_064194 rs386833929
23 NPHS1 p.Ala107Thr VAR_064195 rs386833933
24 NPHS1 p.Ala107Val VAR_064196 rs386833934
25 NPHS1 p.Pro167Leu VAR_064197 rs386833945
26 NPHS1 p.Arg256Trp VAR_064198 rs386833960
27 NPHS1 p.Cys265Arg VAR_064200 rs267606917
28 NPHS1 p.Arg299Cys VAR_064201 rs753476209
29 NPHS1 p.Pro340His VAR_064202 rs386833861
30 NPHS1 p.Gly347Glu VAR_064203 rs386833862
31 NPHS1 p.Pro368Leu VAR_064204 rs386833867
32 NPHS1 p.Arg379Trp VAR_064205 rs386833871
33 NPHS1 p.Arg407Trp VAR_064206 rs386833874
34 NPHS1 p.Gly412Cys VAR_064207 rs142008044
35 NPHS1 p.Cys417Phe VAR_064208 rs386833875
36 NPHS1 p.Arg460Gln VAR_064209 rs386833880
37 NPHS1 p.Pro519Ser VAR_064210 rs386833884
38 NPHS1 p.Arg558Cys VAR_064211 rs386833886
39 NPHS1 p.Ser569Arg VAR_064212 rs386833888
40 NPHS1 p.Ser572Asn VAR_064213 rs386833889
41 NPHS1 p.Pro575Gln VAR_064214 rs386833890
42 NPHS1 p.Arg586Gly VAR_064215 rs730880174
43 NPHS1 p.Leu587Arg VAR_064216 rs386833892
44 NPHS1 p.Asn673Lys VAR_064218 rs191807913
45 NPHS1 p.Trp681Cys VAR_064219 rs386833900
46 NPHS1 p.Val709Gly VAR_064220 rs386833902
47 NPHS1 p.Ala739Val VAR_064222 rs386833907
48 NPHS1 p.Val822Met VAR_064223 rs267606918
49 NPHS1 p.Leu832Pro VAR_064224 rs386833916
50 NPHS1 p.Val834Phe VAR_064225 rs386833917

ClinVar genetic disease variations for Nephrotic Syndrome, Type 1:

6 (show top 50) (show all 542)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh37 Chromosome 16, 5128790: 5128790
2 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh38 Chromosome 16, 5078789: 5078789
3 NPHS1 NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs137853042 GRCh37 Chromosome 19, 36322260: 36322260
4 NPHS1 NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs137853042 GRCh38 Chromosome 19, 35831358: 35831358
5 NPHS1 NPHS1, 1-BP INS, 3250G insertion Pathogenic
6 NPHS1 NM_004646.3(NPHS1): c.1339G> A (p.Glu447Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs28939695 GRCh37 Chromosome 19, 36339044: 36339044
7 NPHS1 NM_004646.3(NPHS1): c.1339G> A (p.Glu447Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs28939695 GRCh38 Chromosome 19, 35848142: 35848142
8 NPHS1 NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter) single nucleotide variant Pathogenic rs267606919 GRCh37 Chromosome 19, 36321958: 36321958
9 NPHS1 NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter) single nucleotide variant Pathogenic rs267606919 GRCh38 Chromosome 19, 35831056: 35831056
10 NPHS1 NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg) single nucleotide variant Pathogenic rs267606917 GRCh37 Chromosome 19, 36340185: 36340185
11 NPHS1 NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg) single nucleotide variant Pathogenic rs267606917 GRCh38 Chromosome 19, 35849283: 35849283
12 NPHS1 NM_004646.3(NPHS1): c.2464G> A (p.Val822Met) single nucleotide variant Uncertain significance rs267606918 GRCh37 Chromosome 19, 36333323: 36333323
13 NPHS1 NM_004646.3(NPHS1): c.2464G> A (p.Val822Met) single nucleotide variant Uncertain significance rs267606918 GRCh38 Chromosome 19, 35842421: 35842421
14 NPHS1 NM_004646.3(NPHS1): c.2456A> T (p.Asp819Val) single nucleotide variant no interpretation for the single variant rs387906357 GRCh37 Chromosome 19, 36333331: 36333331
15 NPHS1 NM_004646.3(NPHS1): c.2456A> T (p.Asp819Val) single nucleotide variant no interpretation for the single variant rs387906357 GRCh38 Chromosome 19, 35842429: 35842429
16 NPHS1 NM_004646.3(NPHS1): c.-475_-468delGAGAGAGA deletion Likely pathogenic rs139954720 GRCh37 Chromosome 19, 36343207: 36343214
17 NPHS1 NM_004646.3(NPHS1): c.-475_-468delGAGAGAGA deletion Likely pathogenic rs139954720 GRCh38 Chromosome 19, 35852305: 35852312
18 NPHS1 NM_004646.3(NPHS1): c.1019C> A (p.Pro340His) single nucleotide variant Likely pathogenic rs386833861 GRCh37 Chromosome 19, 36339690: 36339690
19 NPHS1 NM_004646.3(NPHS1): c.1019C> A (p.Pro340His) single nucleotide variant Likely pathogenic rs386833861 GRCh38 Chromosome 19, 35848788: 35848788
20 NPHS1 NM_004646.3(NPHS1): c.1040G> A (p.Gly347Glu) single nucleotide variant Likely pathogenic rs386833862 GRCh37 Chromosome 19, 36339669: 36339669
21 NPHS1 NM_004646.3(NPHS1): c.1040G> A (p.Gly347Glu) single nucleotide variant Likely pathogenic rs386833862 GRCh38 Chromosome 19, 35848767: 35848767
22 NPHS1 NM_004646.3(NPHS1): c.1048T> C (p.Ser350Pro) single nucleotide variant Likely pathogenic rs386833863 GRCh37 Chromosome 19, 36339661: 36339661
23 NPHS1 NM_004646.3(NPHS1): c.1048T> C (p.Ser350Pro) single nucleotide variant Likely pathogenic rs386833863 GRCh38 Chromosome 19, 35848759: 35848759
24 NPHS1 NM_004646.3(NPHS1): c.1096A> C (p.Ser366Arg) single nucleotide variant Likely pathogenic rs386833864 GRCh37 Chromosome 19, 36339613: 36339613
25 NPHS1 NM_004646.3(NPHS1): c.1096A> C (p.Ser366Arg) single nucleotide variant Likely pathogenic rs386833864 GRCh38 Chromosome 19, 35848711: 35848711
26 NPHS1 NM_004646.3(NPHS1): c.1099C> T (p.Arg367Cys) single nucleotide variant Likely pathogenic rs386833865 GRCh37 Chromosome 19, 36339610: 36339610
27 NPHS1 NM_004646.3(NPHS1): c.1099C> T (p.Arg367Cys) single nucleotide variant Likely pathogenic rs386833865 GRCh38 Chromosome 19, 35848708: 35848708
28 NPHS1 NM_004646.3(NPHS1): c.1100G> A (p.Arg367His) single nucleotide variant Likely pathogenic rs200905486 GRCh37 Chromosome 19, 36339609: 36339609
29 NPHS1 NM_004646.3(NPHS1): c.1100G> A (p.Arg367His) single nucleotide variant Likely pathogenic rs200905486 GRCh38 Chromosome 19, 35848707: 35848707
30 NPHS1 NM_004646.3(NPHS1): c.1102C> T (p.Pro368Ser) single nucleotide variant Likely pathogenic rs386833866 GRCh37 Chromosome 19, 36339607: 36339607
31 NPHS1 NM_004646.3(NPHS1): c.1102C> T (p.Pro368Ser) single nucleotide variant Likely pathogenic rs386833866 GRCh38 Chromosome 19, 35848705: 35848705
32 NPHS1 NM_004646.3(NPHS1): c.1103C> T (p.Pro368Leu) single nucleotide variant Likely pathogenic rs386833867 GRCh37 Chromosome 19, 36339606: 36339606
33 NPHS1 NM_004646.3(NPHS1): c.1103C> T (p.Pro368Leu) single nucleotide variant Likely pathogenic rs386833867 GRCh38 Chromosome 19, 35848704: 35848704
34 NPHS1 NM_004646.3(NPHS1): c.1126C> G (p.Leu376Val) single nucleotide variant Likely pathogenic rs386833868 GRCh37 Chromosome 19, 36339583: 36339583
35 NPHS1 NM_004646.3(NPHS1): c.1126C> G (p.Leu376Val) single nucleotide variant Likely pathogenic rs386833868 GRCh38 Chromosome 19, 35848681: 35848681
36 NPHS1 NM_004646.3(NPHS1): c.1134G> A (p.Trp378Ter) single nucleotide variant Likely pathogenic rs386833869 GRCh37 Chromosome 19, 36339575: 36339575
37 NPHS1 NM_004646.3(NPHS1): c.1134G> A (p.Trp378Ter) single nucleotide variant Likely pathogenic rs386833869 GRCh38 Chromosome 19, 35848673: 35848673
38 NPHS1 NM_004646.3(NPHS1): c.1135C> T (p.Arg379Trp) single nucleotide variant Likely pathogenic rs386833871 GRCh37 Chromosome 19, 36339574: 36339574
39 NPHS1 NM_004646.3(NPHS1): c.1135C> T (p.Arg379Trp) single nucleotide variant Likely pathogenic rs386833871 GRCh38 Chromosome 19, 35848672: 35848672
40 NPHS1 NM_004646.3(NPHS1): c.1135_1136delCG (p.Arg379Alafs) deletion Likely pathogenic rs386833870 GRCh37 Chromosome 19, 36339573: 36339574
41 NPHS1 NM_004646.3(NPHS1): c.1135_1136delCG (p.Arg379Alafs) deletion Likely pathogenic rs386833870 GRCh38 Chromosome 19, 35848671: 35848672
42 NPHS1 NM_004646.3(NPHS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs386833872 GRCh37 Chromosome 19, 36339571: 36339571
43 NPHS1 NM_004646.3(NPHS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs386833872 GRCh38 Chromosome 19, 35848669: 35848669
44 NPHS1 NM_004646.3(NPHS1): c.1219C> T (p.Arg407Trp) single nucleotide variant Likely pathogenic rs386833874 GRCh37 Chromosome 19, 36339251: 36339251
45 NPHS1 NM_004646.3(NPHS1): c.1219C> T (p.Arg407Trp) single nucleotide variant Likely pathogenic rs386833874 GRCh38 Chromosome 19, 35848349: 35848349
46 NPHS1 NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs) deletion Pathogenic rs386833873 GRCh37 Chromosome 19, 36342511: 36342512
47 NPHS1 NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs) deletion Pathogenic rs386833873 GRCh38 Chromosome 19, 35851609: 35851610
48 NPHS1 NM_004646.3(NPHS1): c.1234G> T (p.Gly412Cys) single nucleotide variant Likely pathogenic rs142008044 GRCh37 Chromosome 19, 36339236: 36339236
49 NPHS1 NM_004646.3(NPHS1): c.1234G> T (p.Gly412Cys) single nucleotide variant Likely pathogenic rs142008044 GRCh38 Chromosome 19, 35848334: 35848334
50 NPHS1 NM_004646.3(NPHS1): c.1250G> T (p.Cys417Phe) single nucleotide variant Likely pathogenic rs386833875 GRCh37 Chromosome 19, 36339220: 36339220

Copy number variations for Nephrotic Syndrome, Type 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 127113 19 26500000 59128983 Copy number NPHS1 Congenital nephrotic syndrome

Expression for Nephrotic Syndrome, Type 1

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 1.

Pathways for Nephrotic Syndrome, Type 1

GO Terms for Nephrotic Syndrome, Type 1

Cellular components related to Nephrotic Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 ACHE BBS7 CD2AP CRB2 KIRREL1 LPL
2 perinuclear region of cytoplasm GO:0048471 9.67 ACHE ACTN4 CD2AP KIRREL1
3 protein-containing complex GO:0032991 9.55 ACTN4 CD2AP CRB2 NPHS2 TJP1
4 membrane raft GO:0045121 9.32 KIRREL1 NPHS2
5 cell-cell junction GO:0005911 9.02 ACTN4 CD2AP KIRREL1 NPHS2 TJP1
6 slit diaphragm GO:0036057 8.96 NPHS1 NPHS2

Biological processes related to Nephrotic Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of actin filament polymerization GO:0030838 9.16 KIRREL1 NPHS1
2 glomerular basement membrane development GO:0032836 8.96 NPHS1 WT1
3 excretion GO:0007588 8.8 KIRREL1 NPHS1 NPHS2

Molecular functions related to Nephrotic Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 8.96 ACHE LPL
2 myosin binding GO:0017022 8.62 KIRREL1 NPHS1

Sources for Nephrotic Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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