MCID: FML015
MIFTS: 41

Familial Nephrotic Syndrome

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

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 12 25 15
Congenital Nephrotic Syndrome 12 74 25
Finnish Congenital Nephrotic Syndrome 71
Nephrosis, Congenital 71

Classifications:



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Disease Ontology 12 DOID:2590
MeSH 43 C535761
NCIt 49 C35337
SNOMED-CT 67 48796009
ICD10 32 N04
UMLS 71 C0403399 C3501848

Summaries for Familial Nephrotic Syndrome

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. The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome. Children with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 2 and nephrotic syndrome, type 1, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, brain and placenta, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A nephrotic syndrome that has material basis in genetic mutations.

Wikipedia : 74 Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3... more...

Related Diseases for Familial Nephrotic Syndrome

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
Familial Nephrotic Syndrome Congenital and Infantile Nephrotic Syndrome

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

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 2 32.2 PLCE1 NPHS2 NPHS1 INF2 ACTN4
2 nephrotic syndrome, type 1 31.9 WT1 NPHS2 NPHS1 KIRREL1 CD2AP ACTN4
3 diffuse mesangial sclerosis 30.7 WT1 PLCE1 NPHS2 NPHS1
4 pierson syndrome 30.7 WT1 PLCE1 NPHS2 NPHS1 LMX1B KIRREL1
5 galloway-mowat syndrome 30.6 WT1 SYNPO PTPRO PLCE1 NPHS2 NPHS1
6 congenital syphilis 30.3 PLCE1 NPHS2 NPHS1
7 glomerular disease 29.9 NPHS2 NPHS1 CD2AP
8 wilms tumor 1 29.3 WT1 SYNPO PODXL NPHS2 NPHS1 ACTN4
9 end stage renal failure 29.2 WT1 PTPRO PLCE1 NPHS2 NPHS1
10 denys-drash syndrome 28.7 WT1 TRPC6 SYNPO PLCE1 NPHS2 NPHS1
11 nephrotic syndrome 28.4 WT1 TRPC6 SYNPO PTPRO PLCE1 NPHS2
12 kidney disease 28.2 WT1 TRPC6 NPHS2 NPHS1 LMX1B CRB2
13 lipoid nephrosis 28.2 WT1 TRPC6 SYNPO PTPRO PODXL NPHS2
14 frasier syndrome 27.2 WT1 TRPC6 PLCE1 NPHS2 NPHS1 LMX1B
15 focal segmental glomerulosclerosis 25.3 WT1 TRPC6 SYNPO PTPRO PODXL PLCE1
16 congenital nephrotic syndrome finnish type 12.7
17 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.9
18 nephrotic syndrome, type 4 11.2
19 nephrotic syndrome, type 3 11.2
20 nephrotic syndrome, type 6 11.2
21 nephrotic syndrome, type 5, with or without ocular abnormalities 11.2
22 nephrotic syndrome, type 7 11.2
23 nephrotic syndrome, type 8 11.2
24 nephrotic syndrome, type 9 11.2
25 nephrotic syndrome, type 10 11.2
26 nephrotic syndrome, type 11 11.2
27 nephrotic syndrome, type 12 11.2
28 nephrotic syndrome, type 13 11.2
29 nephrotic syndrome, type 14 11.2
30 nephrotic syndrome, type 15 11.2
31 nephrotic syndrome, type 16 11.2
32 nephrotic syndrome, type 17 11.2
33 nephrotic syndrome, type 18 11.2
34 nephrotic syndrome, type 19 11.2
35 autosomal recessive disease 10.4
36 hypothyroidism 10.2
37 hypoparathyroidism, sensorineural deafness, and renal disease 10.2 NPHS2 NPHS1 ACTN4
38 cytomegalovirus infection 10.1
39 iga nephropathy 1 10.1 NPHS2 NPHS1
40 iga glomerulonephritis 10.1 SYNPO NPHS2 NPHS1
41 wilms tumor 5 10.1
42 syphilis 10.1
43 toxoplasmosis 10.1
44 nephrosclerosis 10.1 SYNPO NPHS2 NPHS1
45 oligomeganephronia 10.1 NPHS2 NPHS1 INF2 ACTN4
46 pyloric stenosis 10.0
47 peritonitis 10.0
48 microcephaly 10.0
49 focal segmental glomerulosclerosis 7 10.0 INF2 CRB2
50 membranous nephropathy 10.0 TRPC6 NPHS2 NPHS1 CD2AP

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

GenomeRNAi Phenotypes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 10.02 INF2 SYNPO WT1
2 Decreased viability GR00402-S-2 10.02 ACTN4 CD2AP COL4A3 COQ2 CRB2 INF2
3 no effect GR00402-S-1 9.62 ACTN4 CD2AP COL4A3 COQ2 CRB2 INF2

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ACTN4 CD2AP COL4A3 COQ2 CRB2 INF2
2 homeostasis/metabolism MP:0005376 9.93 ACTN4 CD2AP COL4A3 COQ2 KIRREL1 LMX1B
3 normal MP:0002873 9.56 CRB2 KIRREL1 KIRREL2 LMX1B NCK1 NPHS1
4 renal/urinary system MP:0005367 9.4 ACTN4 CD2AP COL4A3 KIRREL1 LMX1B MYO1E

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

MalaCards organs/tissues related to Familial Nephrotic Syndrome:

40
Kidney, Brain, Placenta, Eye, Thyroid, Lung, Pituitary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show top 50) (show all 725)
# Title Authors PMID Year
1
Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic Syndrome. 61
31844815 2019
2
'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'. 61
31769495 2019
3
[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome]. 61
31598951 2019
4
Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence? 61
31587616 2019
5
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. 61
31655822 2019
6
Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy. 61
31477414 2019
7
Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. 61
31171376 2019
8
Early or Late Transplantation in Congenital Nephrotic Syndrome: Which is Effective for Optimal Growth? 61
31400976 2019
9
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. 61
31443662 2019
10
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. 61
30963316 2019
11
Outcome of kidney transplantation from young pediatric donors (aged less than 6 years) to young size-matched recipients. 61
31005637 2019
12
Congenital nephrotic syndrome secondary to pertussis. 61
31160052 2019
13
Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases. 61
30374605 2019
14
The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic? 61
31013750 2019
15
Treatment and outcome of congenital nephrotic syndrome. 61
29474669 2019
16
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. 61
30778115 2019
17
Auto-immune Thyroiditis in an Infant Masquerading as Congenital Nephrotic Syndrome. 61
30128632 2019
18
Incidence of pediatric glomerular diseases in Arab world: A systematic review. 61
30804262 2019
19
Analysis of 14 Patients With Congenital Nephrotic Syndrome. 61
31456999 2019
20
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome. 61
30778388 2019
21
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Questions. 61
29959530 2019
22
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Answers. 61
29959533 2019
23
Corrigendum: Analysis of 14 Patients With Congenital Nephrotic Syndrome. 61
31788464 2019
24
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. 61
30594156 2018
25
3D organoid-derived human glomeruli for personalised podocyte disease modelling and drug screening. 61
30514835 2018
26
Glomeruli from patients with nephrin mutations show increased number of ciliated and poorly differentiated podocytes. 61
30193978 2018
27
Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. 61
30120985 2018
28
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane. 61
29673759 2018
29
Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes. 61
30174315 2018
30
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 61
30090628 2018
31
Acute peritoneal dialysis in neonatal intensive care unit: An 8-year experience of a referral hospital. 61
29217372 2018
32
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. 61
29663071 2018
33
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. 61
29501407 2018
34
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. 61
30215773 2018
35
Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan. 61
29185126 2018
36
Bilateral pulmonary thrombosis in a newborn with congenital nephrotic syndrome. 61
29469202 2018
37
Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome. 61
29472414 2018
38
Pathogenicity of a Human Laminin ╬▓2 Mutation Revealed in Models of Alport Syndrome. 61
29263159 2018
39
Renal involvement in PMM2-CDG, a mini-review. 61
29229467 2018
40
Association of crumbs homolog-2 with mTORC1 in developing podocyte. 61
30125302 2018
41
Skeletal impairment in Pierson syndrome: Is there a role for laminin╬▓2 in bone physiology? 61
29051055 2018
42
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. 61
29127259 2018
43
Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling. 61
30212551 2018
44
Pediatric Renal Transplantation in Oman: A Single-center Experience. 61
29467993 2018
45
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. 61
29244787 2017
46
Kidney transplantation in a child with Pierson syndrome. 61
29094445 2017
47
Vomiting in an infant with congenital nephrotic syndrome: Questions. 61
27757585 2017
48
Vomiting in infant with congenital nephrotic syndrome: Answers. 61
27757586 2017
49
High incidence of idiopathic nephrotic syndrome in East Asian children: a nationwide survey in Japan (JP-SHINE study). 61
27590892 2017
50
Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. 61
28818041 2017

Variations for Familial Nephrotic Syndrome

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 TRPC6 SYNPO PTPRO PODXL PLCE1 NPHS2
2 extracellular exosome GO:0070062 9.92 PTPRO PODXL NPHS2 NPHS1 MYO1E CRB2
3 actin cytoskeleton GO:0015629 9.56 SYNPO MYO1E CD2AP ACTN4
4 cell-cell junction GO:0005911 9.5 NPHS2 NCK1 MYO1E KIRREL2 KIRREL1 CD2AP
5 slit diaphragm GO:0036057 9.02 TRPC6 PODXL NPHS2 NPHS1 KIRREL2

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of actin filament polymerization GO:0030838 9.5 NPHS1 NCK1 KIRREL1
2 excretion GO:0007588 9.43 NPHS2 NPHS1 KIRREL1
3 substrate-dependent cell migration, cell extension GO:0006930 9.4 NCK1 CD2AP
4 glomerular visceral epithelial cell differentiation GO:0072112 9.37 WT1 PTPRO
5 glomerulus development GO:0032835 9.33 WT1 PTPRO PLCE1
6 glomerular visceral epithelial cell development GO:0072015 9.13 PODXL NPHS1 MYO1E
7 glomerular basement membrane development GO:0032836 8.92 WT1 NPHS1 MYO1E COL4A3

Molecular functions related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 WT1 TRPC6 SYNPO PTPRO PODXL PLCE1
2 myosin binding GO:0017022 9.16 NPHS1 KIRREL1
3 actin binding GO:0003779 9.02 TRPC6 SYNPO MYO1E INF2 ACTN4

Sources for Familial Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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