NPHS1
MCID: NPH055
MIFTS: 51

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
Finnish Congenital Nephrotic Syndrome 29 6 73
Finnish Congenital Nephrosis 57 59 75
Nphs1 57 75 55
Cnf 57 75
Congenital Nephrotic Syndrome of the Finnish Type 75
Congenital Nephrotic Syndrome, Finnish Type 59
Finnish Congenital Nephrosis; Cnf 57
Nephrotic Syndrome, Congenital 57
Congenital Nephrotic Syndrome 75
Nephrotic Syndrome, Type 1 ) 40
Nephrosis, Congenital 73
Nephrotic Syndrome 1 75

Characteristics:

Orphanet epidemiological data:

59
congenital nephrotic syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
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:

32
nephrotic syndrome, type 1:
Onset and clinical course rapidly progressive congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


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)

MalaCards based summary : Nephrotic Syndrome, Type 1, also known as finnish congenital nephrotic syndrome, 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, Nephrin), and among its related pathways/superpathways are Cell junction organization and Cytoskeletal Signaling. Affiliated tissues include kidney, placenta and lung, and related phenotypes are proteinuria and abnormality of the renal tubule

Genetics Home Reference : 25 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 : 75 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 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 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 97)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 1 33.0 ACTN4 NPHS1
2 nephrotic syndrome, type 6 32.6 NPHS1 NPHS2 WT1
3 focal segmental glomerulosclerosis 32.2 ACTN4 CD2AP NPHS1 NPHS2 WT1
4 iga glomerulonephritis 32.1 NPHS1 NPHS2
5 membranous nephropathy 31.9 CD2AP NPHS1 NPHS2
6 familial nephrotic syndrome 31.9 ACTN4 CD2AP NPHS1 NPHS2 WT1
7 nephrosclerosis 31.8 NPHS1 NPHS2
8 kidney hypertrophy 31.8 NPHS1 NPHS2
9 lipoid nephrosis 31.8 CD2AP NPHS1 NPHS2
10 nephrotic syndrome 31.8 ACTN4 CD2AP KIRREL1 NPHS1 NPHS2 WT1
11 galloway-mowat syndrome 31.8 ACTN4 NPHS1 NPHS2
12 end stage renal failure 31.8 NPHS1 NPHS2 WT1
13 atrial septal defect 3 31.7 CD2AP NPHS1 NPHS2
14 hypoparathyroidism, sensorineural deafness, and renal disease 31.7 ACTN4 NPHS1 NPHS2
15 diffuse mesangial sclerosis 31.6 NPHS1 NPHS2 WT1
16 urinary system disease 31.6 NPHS1 NPHS2 WT1
17 denys-drash syndrome 31.6 CD2AP NPHS1 NPHS2 WT1
18 wilms tumor 1 31.5 NPHS1 NPHS2 WT1
19 kidney disease 31.5 ACTN4 CD2AP NPHS1 NPHS2 WT1
20 chronic kidney failure 31.4 ACTN4 NPHS1 NPHS2 WT1
21 frasier syndrome 31.4 ACTN4 CD2AP NPHS1 NPHS2 WT1
22 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 31.0 ACTN4 CD2AP NPHS1 NPHS2 WT1
23 congenital nephrotic syndrome finnish type 12.2
24 pierson syndrome 12.1
25 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.7
26 glomerulonephritis 11.5
27 athetosis 11.4
28 membranoproliferative glomerulonephritis 11.1
29 microvascular complications of diabetes 3 11.0
30 analbuminemia 11.0
31 dyskinetic cerebral palsy 11.0
32 acute proliferative glomerulonephritis 11.0
33 microcoria, congenital 11.0
34 nephrotic syndrome, type 4 11.0
35 nephrotic syndrome, type 2 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 10.2 CD2AP NPHS2
46 nail-patella syndrome 10.1 CD2AP NPHS2
47 testicular granulosa cell tumor 10.1 AFP WT1
48 juvenile type testicular granulosa cell tumor 10.1 AFP WT1
49 male reproductive organ benign neoplasm 10.1 AFP WT1
50 adenomatoid tumor 10.1 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nephrotic Syndrome, Type 1:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
2 abnormality of the renal tubule 59 32 hallmark (90%) Very frequent (99-80%) HP:0000091
3 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
4 delayed eruption of permanent teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000696
5 elevated amniotic fluid alpha-fetoprotein 59 32 hallmark (90%) Very frequent (99-80%) HP:0004639
6 hypothyroidism 32 HP:0000821
7 gastroesophageal reflux 32 HP:0002020
8 renal insufficiency 32 HP:0000083
9 edema 32 HP:0000969
10 growth delay 32 HP:0001510
11 hyperlipidemia 32 HP:0003077
12 recurrent infections 32 HP:0002719
13 pyloric stenosis 32 HP:0002021
14 abdominal distention 32 HP:0003270
15 neonatal respiratory distress 32 HP:0002643
16 hypoalbuminemia 32 HP:0003073
17 small for gestational age 32 HP:0001518
18 hypoproteinemia 32 HP:0003075
19 glomerulosclerosis 32 HP:0000096
20 tubular atrophy 32 HP:0000092
21 diffuse mesangial sclerosis 32 HP:0001967
22 congenital nephrotic syndrome 32 HP:0008677

UMLS symptoms related to Nephrotic Syndrome, Type 1:


edema

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.72 ALG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.72 AFP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.72 ALG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.72 ACTN4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.72 ALG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.72 ALG1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.72 ALG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.72 ACTN4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.72 ALG1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.72 ALG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.72 ACTN4 ALG1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.72 ALG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.72 ALG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.72 AFP
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.72 ALG1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.72 AFP
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.72 ACTN4 ALG1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.72 ACTN4 AFP ALG1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.72 ACTN4
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.72 AFP
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.72 ACTN4

MGI Mouse Phenotypes related to Nephrotic Syndrome, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 ACHE ACTN4 CD2AP KIRREL1 LPL NPHS2
2 homeostasis/metabolism MP:0005376 9.85 ACHE ACTN4 AFP CD2AP KIRREL1 LPL
3 mortality/aging MP:0010768 9.65 ACHE ACTN4 AFP CD2AP KIRREL1 LPL
4 renal/urinary system MP:0005367 9.17 ACTN4 CD2AP KIRREL1 NPHS1 NPHS2 TJP1

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

Genetic tests related to Nephrotic Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Finnish Congenital Nephrotic Syndrome 29 NPHS1

Anatomical Context for Nephrotic Syndrome, Type 1

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

41
Kidney, Placenta, Lung, Ovary, Thyroid

Publications for Nephrotic Syndrome, Type 1

Articles related to Nephrotic Syndrome, Type 1:

# Title Authors Year
1
Successful treatment of Finnish congenital nephrotic syndrome with captopril and indomethacin. ( 7815205 )
1995
2
Management of Finnish congenital nephrotic syndrome by unilateral nephrectomy. ( 2642116 )
1989

Variations for Nephrotic Syndrome, Type 1

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

75 (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 540)
# 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.3720_*9del16 deletion Likely pathogenic rs386833941 GRCh38 Chromosome 19, 35826505: 35826520
17 NPHS1 NM_004646.3(NPHS1): c.-475_-468delGAGAGAGA deletion Likely pathogenic rs386833860 GRCh37 Chromosome 19, 36343207: 36343214
18 NPHS1 NM_004646.3(NPHS1): c.-475_-468delGAGAGAGA deletion Likely pathogenic rs386833860 GRCh38 Chromosome 19, 35852305: 35852312
19 NPHS1 NM_004646.3(NPHS1): c.1019C> A (p.Pro340His) single nucleotide variant Likely pathogenic rs386833861 GRCh37 Chromosome 19, 36339690: 36339690
20 NPHS1 NM_004646.3(NPHS1): c.1019C> A (p.Pro340His) single nucleotide variant Likely pathogenic rs386833861 GRCh38 Chromosome 19, 35848788: 35848788
21 NPHS1 NM_004646.3(NPHS1): c.1040G> A (p.Gly347Glu) single nucleotide variant Likely pathogenic rs386833862 GRCh37 Chromosome 19, 36339669: 36339669
22 NPHS1 NM_004646.3(NPHS1): c.1040G> A (p.Gly347Glu) single nucleotide variant Likely pathogenic rs386833862 GRCh38 Chromosome 19, 35848767: 35848767
23 NPHS1 NM_004646.3(NPHS1): c.1048T> C (p.Ser350Pro) single nucleotide variant Likely pathogenic rs386833863 GRCh37 Chromosome 19, 36339661: 36339661
24 NPHS1 NM_004646.3(NPHS1): c.1048T> C (p.Ser350Pro) single nucleotide variant Likely pathogenic rs386833863 GRCh38 Chromosome 19, 35848759: 35848759
25 NPHS1 NM_004646.3(NPHS1): c.1096A> C (p.Ser366Arg) single nucleotide variant Likely pathogenic rs386833864 GRCh37 Chromosome 19, 36339613: 36339613
26 NPHS1 NM_004646.3(NPHS1): c.1096A> C (p.Ser366Arg) single nucleotide variant Likely pathogenic rs386833864 GRCh38 Chromosome 19, 35848711: 35848711
27 NPHS1 NM_004646.3(NPHS1): c.1099C> T (p.Arg367Cys) single nucleotide variant Likely pathogenic rs386833865 GRCh37 Chromosome 19, 36339610: 36339610
28 NPHS1 NM_004646.3(NPHS1): c.1099C> T (p.Arg367Cys) single nucleotide variant Likely pathogenic rs386833865 GRCh38 Chromosome 19, 35848708: 35848708
29 NPHS1 NM_004646.3(NPHS1): c.1100G> A (p.Arg367His) single nucleotide variant Likely pathogenic rs200905486 GRCh37 Chromosome 19, 36339609: 36339609
30 NPHS1 NM_004646.3(NPHS1): c.1100G> A (p.Arg367His) single nucleotide variant Likely pathogenic rs200905486 GRCh38 Chromosome 19, 35848707: 35848707
31 NPHS1 NM_004646.3(NPHS1): c.1102C> T (p.Pro368Ser) single nucleotide variant Likely pathogenic rs386833866 GRCh37 Chromosome 19, 36339607: 36339607
32 NPHS1 NM_004646.3(NPHS1): c.1102C> T (p.Pro368Ser) single nucleotide variant Likely pathogenic rs386833866 GRCh38 Chromosome 19, 35848705: 35848705
33 NPHS1 NM_004646.3(NPHS1): c.1103C> T (p.Pro368Leu) single nucleotide variant Likely pathogenic rs386833867 GRCh37 Chromosome 19, 36339606: 36339606
34 NPHS1 NM_004646.3(NPHS1): c.1103C> T (p.Pro368Leu) single nucleotide variant Likely pathogenic rs386833867 GRCh38 Chromosome 19, 35848704: 35848704
35 NPHS1 NM_004646.3(NPHS1): c.1126C> G (p.Leu376Val) single nucleotide variant Likely pathogenic rs386833868 GRCh37 Chromosome 19, 36339583: 36339583
36 NPHS1 NM_004646.3(NPHS1): c.1126C> G (p.Leu376Val) single nucleotide variant Likely pathogenic rs386833868 GRCh38 Chromosome 19, 35848681: 35848681
37 NPHS1 NM_004646.3(NPHS1): c.1134G> A (p.Trp378Ter) single nucleotide variant Likely pathogenic rs386833869 GRCh37 Chromosome 19, 36339575: 36339575
38 NPHS1 NM_004646.3(NPHS1): c.1134G> A (p.Trp378Ter) single nucleotide variant Likely pathogenic rs386833869 GRCh38 Chromosome 19, 35848673: 35848673
39 NPHS1 NM_004646.3(NPHS1): c.1135C> T (p.Arg379Trp) single nucleotide variant Likely pathogenic rs386833871 GRCh37 Chromosome 19, 36339574: 36339574
40 NPHS1 NM_004646.3(NPHS1): c.1135C> T (p.Arg379Trp) single nucleotide variant Likely pathogenic rs386833871 GRCh38 Chromosome 19, 35848672: 35848672
41 NPHS1 NM_004646.3(NPHS1): c.1135_1136delCG (p.Arg379Alafs) deletion Likely pathogenic rs386833870 GRCh37 Chromosome 19, 36339573: 36339574
42 NPHS1 NM_004646.3(NPHS1): c.1135_1136delCG (p.Arg379Alafs) deletion Likely pathogenic rs386833870 GRCh38 Chromosome 19, 35848671: 35848672
43 NPHS1 NM_004646.3(NPHS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs386833872 GRCh37 Chromosome 19, 36339571: 36339571
44 NPHS1 NM_004646.3(NPHS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs386833872 GRCh38 Chromosome 19, 35848669: 35848669
45 NPHS1 NM_004646.3(NPHS1): c.1219C> T (p.Arg407Trp) single nucleotide variant Likely pathogenic rs386833874 GRCh37 Chromosome 19, 36339251: 36339251
46 NPHS1 NM_004646.3(NPHS1): c.1219C> T (p.Arg407Trp) single nucleotide variant Likely pathogenic rs386833874 GRCh38 Chromosome 19, 35848349: 35848349
47 NPHS1 NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs) deletion Pathogenic rs386833873 GRCh37 Chromosome 19, 36342511: 36342512
48 NPHS1 NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs) deletion Pathogenic rs386833873 GRCh38 Chromosome 19, 35851609: 35851610
49 NPHS1 NM_004646.3(NPHS1): c.1234G> T (p.Gly412Cys) single nucleotide variant Likely pathogenic rs142008044 GRCh37 Chromosome 19, 36339236: 36339236
50 NPHS1 NM_004646.3(NPHS1): c.1234G> T (p.Gly412Cys) single nucleotide variant Likely pathogenic rs142008044 GRCh38 Chromosome 19, 35848334: 35848334

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 cell junction GO:0030054 9.62 ACHE ACTN4 CD2AP TJP1
2 perinuclear region of cytoplasm GO:0048471 9.56 ACHE ACTN4 CD2AP KIRREL1
3 protein-containing complex GO:0032991 9.46 ACTN4 CD2AP NPHS2 TJP1
4 cell-cell junction GO:0005911 9.02 ACTN4 CD2AP KIRREL1 NPHS2 TJP1
5 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

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