NPHS1
MCID: NPH055
MIFTS: 52

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 57 13 6 39
Finnish Congenital Nephrosis 57 12 58 72
Nphs1 57 72 54
Congenital Nephrotic Syndrome 72 6
Nephrotic Syndrome Type 1 12 15
Cnf 57 72
Congenital Nephrotic Syndrome of the Finnish Type 72
Congenital Nephrotic Syndrome, Finnish Type 58
Finnish Congenital Nephrotic Syndrome 70
Finnish Congenital Nephrosis; Cnf 57
Nephrotic Syndrome, Congenital 57
Nephrosis, Congenital 70
Nephrotic Syndrome 1 72

Characteristics:

Orphanet epidemiological data:

58
congenital nephrotic syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
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

Inheritance:
autosomal recessive


HPO:

31
nephrotic syndrome, type 1:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive congenital onset


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0080390
OMIM® 57 256300
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404
NCIt 50 C122795
SNOMED-CT 67 197601003
MESH via Orphanet 45 C535761
ICD10 via Orphanet 33 N04.8
UMLS via Orphanet 71 C0403399
Orphanet 58 ORPHA839
MedGen 41 C0403399
UMLS 70 C0403399 C3501848

Summaries for Nephrotic Syndrome, Type 1

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Nephrotic Syndrome, Type 1, also known as finnish congenital nephrosis, is related to congenital nephrotic syndrome finnish type and congenital syphilis, 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 lung, and related phenotypes are proteinuria and abnormal renal tubule morphology

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.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Nephrotic Syndrome, Type 1

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 20 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 Nephrotic Syndrome, Type 21
Nephrotic Syndrome, Type 22 Nephrotic Syndrome, Type 23
Nephrotic Syndrome, Type 24 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 221)
# Related Disease Score Top Affiliating Genes
1 congenital nephrotic syndrome finnish type 31.4 TTC21B-AS1 TTC21B NPHS1 KIRREL2 FAT1 ALG1
2 congenital syphilis 31.4 NPHS2 NPHS1
3 kidney hypertrophy 31.4 NPHS2 NPHS1
4 nephrotic syndrome, type 10 31.3 NPHS2 NPHS1
5 nephrosclerosis 31.3 NPHS2 NPHS1
6 iga glomerulonephritis 31.2 NPHS2 NPHS1 CD2AP
7 acute proliferative glomerulonephritis 31.2 NPHS2 NPHS1
8 nephrotic syndrome, type 2 31.2 NPHS2 NPHS1 CD2AP ACTN4
9 hypoparathyroidism, sensorineural deafness, and renal disease 31.1 NPHS2 NPHS1 ACTN4
10 diffuse mesangial sclerosis 31.1 WT1 NPHS2 NPHS1
11 membranoproliferative glomerulonephritis 31.1 WT1 NPHS1
12 focal segmental glomerulosclerosis 1 31.0 NPHS2 NPHS1 CD2AP ACTN4
13 idiopathic steroid-resistant nephrotic syndrome 31.0 WT1 NPHS2 NPHS1
14 membranous nephropathy 31.0 WT1 NPHS2 NPHS1 CD2AP
15 end stage renal disease 30.8 NPHS2 NPHS1 CD2AP ACTN4
16 lipoid nephrosis 30.8 NPHS2 NPHS1 CD2AP ACTN4
17 chronic kidney disease 30.8 WT1 NPHS2 NPHS1 ACTN4
18 galloway-mowat syndrome 30.7 NPHS2 NPHS1 CD2AP ACTN4
19 oligomeganephronia 30.5 NPHS2 NPHS1 CD2AP ACTN4
20 focal segmental glomerulosclerosis 2 30.5 NPHS2 NPHS1 CD2AP ACTN4
21 nail-patella syndrome 30.5 NPHS2 NPHS1 CD2AP ACTN4
22 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.5 WT1 NPHS2 NPHS1 ACTN4
23 alport syndrome 30.5 NPHS2 NPHS1 CD2AP ACTN4
24 frasier syndrome 30.4 WT1 NPHS2 NPHS1 CD2AP ACTN4
25 kidney disease 30.3 WT1 TTC21B NPHS2 NPHS1 CD2AP ACTN4
26 denys-drash syndrome 30.3 WT1 NPHS2 NPHS1 CD2AP ACTN4
27 wilms tumor 1 30.3 WT1 NPHS2 NPHS1 CD2AP ACTN4
28 focal segmental glomerulosclerosis 30.2 WT1 NPHS2 NPHS1 KIRREL2 FAT1 CD2AP
29 proteinuria, chronic benign 30.1 NPHS2 NPHS1 KIRREL1 CD2AP ACTN4
30 pierson syndrome 30.1 WT1 NPHS2 NPHS1 CD2AP ACTN4
31 glomerular disease 30.1 CD2AP ACTN4
32 nephronophthisis 29.5 TTC21B-AS1 TTC21B NPHS2
33 genetic steroid-resistant nephrotic syndrome 29.3 WT1 NPHS2 NPHS1 CD2AP ACTN4
34 nephrotic syndrome 28.8 WT1 TTC21B-AS1 TTC21B NPHS2 NPHS1 KIRREL2
35 familial nephrotic syndrome 28.5 WT1 TTC21B-AS1 TTC21B NPHS2 NPHS1 KIRREL2
36 glomerulonephritis 11.1
37 microcoria, congenital 11.0
38 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.0
39 hypertension, essential 10.9
40 nephrotic syndrome, type 3 10.9
41 nephrotic syndrome, type 4 10.8
42 nephrotic syndrome, type 20 10.8
43 nephrotic syndrome, type 6 10.8
44 nephrotic syndrome, type 5, with or without ocular abnormalities 10.8
45 coenzyme q10 deficiency, primary, 6 10.8
46 nephrotic syndrome, type 7 10.8
47 nephrotic syndrome, type 9 10.8
48 nephrotic syndrome, type 11 10.8
49 nephrotic syndrome, type 12 10.8
50 nephrotic syndrome, type 14 10.8

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
2 abnormal renal tubule morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000091
3 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
4 delayed eruption of permanent teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000696
5 elevated amniotic fluid alpha-fetoprotein 58 31 hallmark (90%) Very frequent (99-80%) HP:0004639
6 hypothyroidism 31 HP:0000821
7 gastroesophageal reflux 31 HP:0002020
8 renal insufficiency 31 HP:0000083
9 growth delay 31 HP:0001510
10 neonatal respiratory distress 31 HP:0002643
11 hyperlipidemia 31 HP:0003077
12 pyloric stenosis 31 HP:0002021
13 hypoalbuminemia 31 HP:0003073
14 recurrent infections 31 HP:0002719
15 small for gestational age 31 HP:0001518
16 edema 31 HP:0000969
17 abdominal distention 31 HP:0003270
18 hypoproteinemia 31 HP:0003075
19 renal tubular atrophy 31 HP:0000092
20 diffuse mesangial sclerosis 31 HP:0001967
21 glomerular sclerosis 31 HP:0000096
22 congenital nephrotic syndrome 31 HP:0008677

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Prenatal Manifestations Amniotic Fluid:
proteinuria
increased alpha-fetoprotein

Laboratory Abnormalities:
hyperlipidemia
hypoalbuminemia

Growth Other:
growth retardation

Prenatal Manifestations Delivery:
prematurity

Genitourinary Kidneys:
nephrotic syndrome
diffuse mesangial sclerosis
interstitial fibrosis
tubular atrophy
proteinuria, severe
more
Muscle Soft Tissue:
edema

Prenatal Manifestations Placenta And Umbilical Cord:
enlarged placenta

Clinical features from OMIM®:

256300 (Updated 20-May-2021)

UMLS symptoms related to Nephrotic Syndrome, Type 1:


edema

MGI Mouse Phenotypes related to Nephrotic Syndrome, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 ACTN4 ALG1 CD2AP FAT1 KIRREL1 NPHS1
2 renal/urinary system MP:0005367 9.28 ACTN4 CD2AP FAT1 KIRREL1 KIRREL2 NPHS1

Drugs & Therapeutics for Nephrotic Syndrome, Type 1

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

Genetic Tests for Nephrotic Syndrome, Type 1

Anatomical Context for Nephrotic Syndrome, Type 1

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

40
Kidney, Placenta, Lung, Cortex, Eye, Pancreas, Testis

Publications for Nephrotic Syndrome, Type 1

Articles related to Nephrotic Syndrome, Type 1:

(show top 50) (show all 362)
# Title Authors PMID Year
1
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 61 54 57 6
9660941 1998
2
A familial childhood-onset relapsing nephrotic syndrome. 57 6
17290294 2007
3
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. 6 57
10577936 1999
4
Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type. 54 61 57
20020158 2010
5
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 61 54 6
19812541 2009
6
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 61 54 6
19321760 2009
7
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 6 61 54
19406966 2009
8
Genetic forms of nephrotic syndrome: a single-center experience in Brussels. 61 54 6
18709391 2009
9
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 6 54 61
19194555 2009
10
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 6 61 54
18503012 2008
11
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 54 61 6
18614772 2008
12
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). 54 61 6
17371932 2007
13
Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community. 57 61 54
17413422 2007
14
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 54 6 61
16518627 2006
15
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. 61 54 6
16316524 2005
16
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. 6 54 61
15906409 2005
17
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 61 6 54
15780077 2005
18
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 6 61 54
15338398 2004
19
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone. 6 54 61
15213260 2004
20
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. 54 61 6
14570703 2003
21
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 6 54 61
11854170 2002
22
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 54 6 61
11726550 2001
23
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 6 61 54
11317351 2001
24
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. 61 6 54
10972661 2000
25
Treatment and outcome of congenital nephrotic syndrome. 6 61
29474669 2019
26
Analysis of 14 Patients With Congenital Nephrotic Syndrome. 6 61
31456999 2019
27
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. 61 6
30013592 2018
28
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 61 6
28780565 2017
29
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 6 61
28204945 2017
30
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 61 6
28117080 2017
31
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. 6 61
28392951 2017
32
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 61 6
26560236 2016
33
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. 6 61
27019444 2016
34
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 61 6
26668027 2016
35
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. 61 6
25407002 2015
36
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 6 61
25720465 2015
37
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. 61 6
25729976 2015
38
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. 6 61
24682440 2014
39
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. 6 61
24902943 2014
40
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. 61 6
25501161 2014
41
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 6 61
24742477 2014
42
Functional analysis of NPHS1 mutations in Japanese patients. 6 61
24142548 2014
43
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 61 6
23949594 2013
44
NPHS1 gene mutations in children with Nephrotic Syndrome in northwest Iran. 6 61
24498843 2013
45
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 6 61
23595123 2013
46
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 61 6
22565185 2012
47
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 61 6
22732337 2012
48
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. 61 6
22584503 2012
49
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 61 6
22009864 2011
50
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 6 61
21415313 2011

Variations for Nephrotic Syndrome, Type 1

ClinVar genetic disease variations for Nephrotic Syndrome, Type 1:

6 (show top 50) (show all 448)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHS1 NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg) SNV Pathogenic 6874 rs267606917 GRCh37: 19:36340185-36340185
GRCh38: 19:35849283-35849283
2 NPHS1 NPHS1, 1-BP INS, 3250G Insertion Pathogenic 6869 GRCh37:
GRCh38:
3 NPHS1 NM_004646.3(NPHS1):c.1758-8_1785del Deletion Pathogenic 56449 rs386833891 GRCh37: 19:36336415-36336450
GRCh38: 19:35845513-35845548
4 NPHS1 NM_004646.3(NPHS1):c.2515del (p.Gln839fs) Deletion Pathogenic 56479 rs386833918 GRCh37: 19:36333174-36333174
GRCh38: 19:35842272-35842272
5 NPHS1 NM_004646.3(NPHS1):c.3250del (p.Val1084fs) Deletion Pathogenic 56496 rs386833935 GRCh37: 19:36322581-36322581
GRCh38: 19:35831679-35831679
6 NPHS1 NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) Duplication Pathogenic 56482 rs386833921 GRCh37: 19:36333081-36333082
GRCh38: 19:35842179-35842180
7 NPHS1 NM_004646.3(NPHS1):c.1756A>G (p.Arg586Gly) SNV Pathogenic 180463 rs730880174 GRCh37: 19:36336572-36336572
GRCh38: 19:35845670-35845670
8 NPHS1 NM_004646.3(NPHS1):c.609-2A>C SNV Pathogenic 56517 rs386833955 GRCh37: 19:36340557-36340557
GRCh38: 19:35849655-35849655
9 NPHS1 NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) SNV Pathogenic 56521 rs386833959 GRCh37: 19:36340242-36340242
GRCh38: 19:35849340-35849340
10 NPHS1 NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) SNV Pathogenic 430877 rs1131692245 GRCh37: 19:36335011-36335011
GRCh38: 19:35844109-35844109
11 NPHS1 NM_004646.3(NPHS1):c.740G>A (p.Trp247Ter) SNV Pathogenic 813498 rs1599845689 GRCh37: 19:36340238-36340238
GRCh38: 19:35849336-35849336
12 NPHS1 NM_004646.3(NPHS1):c.2536_2539CTAA[1] (p.Thr847fs) Microsatellite Pathogenic 555946 rs1244884053 GRCh37: 19:36333146-36333149
GRCh38: 19:35842244-35842247
13 NPHS1 NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) SNV Pathogenic 56420 rs386833864 GRCh37: 19:36339613-36339613
GRCh38: 19:35848711-35848711
14 NPHS1 NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter) SNV Pathogenic 992391 GRCh37: 19:36342384-36342384
GRCh38: 19:35851482-35851482
15 NPHS1 NM_004646.3(NPHS1):c.3523_3524del (p.Leu1175fs) Deletion Pathogenic 807454 rs1420307327 GRCh37: 19:36321816-36321817
GRCh38: 19:35830914-35830915
16 NPHS1 NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) SNV Pathogenic 56505 rs386833943 GRCh37: 19:36341921-36341921
GRCh38: 19:35851019-35851019
17 NPHS1 NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) SNV Pathogenic 56513 rs386833951 GRCh37: 19:36341342-36341342
GRCh38: 19:35850440-35850440
18 NPHS1 NM_004646.3(NPHS1):c.802C>T (p.Arg268Ter) SNV Pathogenic 496273 rs749341977 GRCh37: 19:36340176-36340176
GRCh38: 19:35849274-35849274
19 NPHS1 NM_004646.3(NPHS1):c.3027C>G (p.Tyr1009Ter) SNV Pathogenic 553429 rs762184939 GRCh37: 19:36330221-36330221
GRCh38: 19:35839319-35839319
20 NPHS1 NM_004646.4(NPHS1):c.3481+1G>T SNV Pathogenic 928578 GRCh37: 19:36321954-36321954
GRCh38: 19:35831052-35831052
21 NPHS1 NM_004646.4(NPHS1):c.1235del (p.Gly412fs) Deletion Pathogenic 843023 GRCh37: 19:36339235-36339235
GRCh38: 19:35848333-35848333
22 NPHS1 NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) Indel Pathogenic 56518 rs1555763603 GRCh37: 19:36340543-36340550
GRCh38: 19:35849641-35849648
23 NPHS1 NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) SNV Pathogenic 56456 rs386833898 GRCh37: 19:36336272-36336272
GRCh38: 19:35845370-35845370
24 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
25 NPHS1 NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) SNV Pathogenic 6867 rs137853042 GRCh37: 19:36322260-36322260
GRCh38: 19:35831358-35831358
26 NPHS1 NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) SNV Pathogenic 6872 rs28939695 GRCh37: 19:36339044-36339044
GRCh38: 19:35848142-35848142
27 NPHS1 NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) SNV Pathogenic 6873 rs267606919 GRCh37: 19:36321958-36321958
GRCh38: 19:35831056-35831056
28 NPHS1 NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) SNV Pathogenic 56421 rs386833865 GRCh37: 19:36339610-36339610
GRCh38: 19:35848708-35848708
29 NPHS1 NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) Deletion Pathogenic 56431 rs386833873 GRCh37: 19:36342511-36342512
GRCh38: 19:35851609-35851610
30 NPHS1 NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) Duplication Pathogenic 56497 rs386833935 GRCh37: 19:36322580-36322581
GRCh38: 19:35831678-35831679
31 NPHS1 NM_004646.3(NPHS1):c.2335-1G>A SNV Pathogenic 188734 rs150038620 GRCh37: 19:36333453-36333453
GRCh38: 19:35842551-35842551
32 NPHS1 NM_004646.3(NPHS1):c.2479C>T (p.Arg827Ter) SNV Pathogenic 632927 rs140018064 GRCh37: 19:36333308-36333308
GRCh38: 19:35842406-35842406
33 NPHS1 NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) SNV Pathogenic/Likely pathogenic 188761 rs138656762 GRCh37: 19:36330320-36330320
GRCh38: 19:35839418-35839418
34 NPHS1 NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) SNV Pathogenic/Likely pathogenic 189074 rs150855173 GRCh37: 19:36321994-36321994
GRCh38: 19:35831092-35831092
35 NPHS1 NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) SNV Pathogenic/Likely pathogenic 56438 rs386833880 GRCh37: 19:36339004-36339004
GRCh38: 19:35848102-35848102
36 NPHS1 NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) SNV Pathogenic/Likely pathogenic 56445 rs386833887 GRCh37: 19:36336627-36336627
GRCh38: 19:35845725-35845725
37 NPHS1 NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) SNV Pathogenic/Likely pathogenic 56453 rs386833895 GRCh37: 19:36336332-36336332
GRCh38: 19:35845430-35845430
38 NPHS1 NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) SNV Pathogenic/Likely pathogenic 56473 rs386833912 GRCh37: 19:36333370-36333370
GRCh38: 19:35842468-35842468
39 NPHS1 NM_004646.3(NPHS1):c.2663+2T>G SNV Pathogenic/Likely pathogenic 496271 rs762392183 GRCh37: 19:36333024-36333024
GRCh38: 19:35842122-35842122
40 NPHS1 NM_004646.3(NPHS1):c.619del (p.Arg207fs) Deletion Pathogenic/Likely pathogenic 370188 rs778217926 GRCh37: 19:36340545-36340545
GRCh38: 19:35849643-35849643
41 NPHS1 NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) SNV Pathogenic/Likely pathogenic 188816 rs139598219 GRCh37: 19:36341309-36341309
GRCh38: 19:35850407-35850407
42 NPHS1 NM_004646.3(NPHS1):c.515_517del (p.Thr172del) Deletion Pathogenic/Likely pathogenic 56509 rs386833947 GRCh37: 19:36341872-36341874
GRCh38: 19:35850970-35850972
43 NPHS1 NM_004646.3(NPHS1):c.139del (p.Ala47fs) Deletion Pathogenic/Likely pathogenic 56440 rs386833882 GRCh37: 19:36342494-36342494
GRCh38: 19:35851592-35851592
44 NPHS1 NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) SNV Pathogenic/Likely pathogenic 56523 rs386833961 GRCh37: 19:36340170-36340170
GRCh38: 19:35849268-35849268
45 NPHS1 NM_004646.3(NPHS1):c.1481del (p.Ser494fs) Deletion Pathogenic/Likely pathogenic 56441 rs386833883 GRCh37: 19:36337056-36337056
GRCh38: 19:35846154-35846154
46 NPHS1 NM_004646.3(NPHS1):c.1555C>T (p.Pro519Ser) SNV Likely pathogenic 56442 rs386833884 GRCh37: 19:36336982-36336982
GRCh38: 19:35846080-35846080
47 NPHS1 NM_004646.3(NPHS1):c.1583G>T (p.Cys528Phe) SNV Likely pathogenic 56443 rs386833885 GRCh37: 19:36336954-36336954
GRCh38: 19:35846052-35846052
48 NPHS1 NM_004646.3(NPHS1):c.1672C>T (p.Arg558Cys) SNV Likely pathogenic 56444 rs386833886 GRCh37: 19:36336656-36336656
GRCh38: 19:35845754-35845754
49 NPHS1 NM_004646.3(NPHS1):c.1707C>G (p.Ser569Arg) SNV Likely pathogenic 56446 rs386833888 GRCh37: 19:36336621-36336621
GRCh38: 19:35845719-35845719
50 NPHS1 NM_004646.3(NPHS1):c.1724C>A (p.Pro575Gln) SNV Likely pathogenic 56448 rs386833890 GRCh37: 19:36336604-36336604
GRCh38: 19:35845702-35845702

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

72 (show top 50) (show all 62)
# 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

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

7
# CNVD ID Chromosome 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 integral component of plasma membrane GO:0005887 9.65 NPHS2 NPHS1 KIRREL2 KIRREL1 FAT1
2 perinuclear region of cytoplasm GO:0048471 9.46 KIRREL1 FAT1 CD2AP ACTN4
3 slit diaphragm GO:0036057 9.13 NPHS2 NPHS1 KIRREL2
4 cell-cell junction GO:0005911 9.1 NPHS2 NPHS1 KIRREL2 KIRREL1 FAT1 CD2AP

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

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.26 WT1 FAT1
2 excretion GO:0007588 9.16 NPHS2 NPHS1
3 cell-cell adhesion GO:0098609 9.02 NPHS1 KIRREL2 KIRREL1 FAT1 CD2AP
4 glomerular basement membrane development GO:0032836 8.96 WT1 NPHS1

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

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 8.96 NPHS1 KIRREL1
2 cell adhesion molecule binding GO:0050839 8.8 NPHS1 KIRREL2 KIRREL1

Sources for Nephrotic Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....