MCID: NPH047
MIFTS: 21

Nephrotic Syndrome, Type 4 malady

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrotic Syndrome, Type 4

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Aliases & Descriptions for Nephrotic Syndrome, Type 4:

Name: Nephrotic Syndrome, Type 4 49 11 65
Isolated Diffuse Mesangial Sclerosis 67
 
Nephrotic Syndrome 4 67
Nphs4 67

Characteristics:

HPO:

61
nephrotic syndrome, type 4:
Onset and clinical course: childhood onset, progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 256370
MeSH36 D009404
UMLS65 C3151568

Summaries for Nephrotic Syndrome, Type 4

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UniProtKB/Swiss-Prot:67 Nephrotic syndrome 4: 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. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.

MalaCards based summary: Nephrotic Syndrome, Type 4, also known as isolated diffuse mesangial sclerosis, is related to diffuse mesangial sclerosis and nephrotic syndrome, type 1, and has symptoms including focal segmental glomerulosclerosis, nephroblastoma (wilms tumor) and diffuse mesangial sclerosis. An important gene associated with Nephrotic Syndrome, Type 4 is WT1 (Wilms Tumor 1). Affiliated tissues include kidney.

OMIM:49 Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant... (256370) more...

Related Diseases for Nephrotic Syndrome, Type 4

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Graphical network of diseases related to Nephrotic Syndrome, Type 4:



Diseases related to nephrotic syndrome, type 4

Symptoms for Nephrotic Syndrome, Type 4

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Symptoms by clinical synopsis from OMIM:

256370

Clinical features from OMIM:

256370

HPO human phenotypes related to Nephrotic Syndrome, Type 4:

id Description Frequency HPO Source Accession
1 focal segmental glomerulosclerosis rare (5%) HP:0000097
2 nephroblastoma (wilms tumor) HP:0002667
3 diffuse mesangial sclerosis HP:0001967
4 nephrotic syndrome HP:0000100
5 renal insufficiency HP:0000083

Drugs & Therapeutics for Nephrotic Syndrome, Type 4

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Drugs for Nephrotic Syndrome, Type 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mycophenolate mofetilapproved, investigationalPhase 4898128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate Mofetil
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
2
Mycophenolic acidapprovedPhase 489824280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
Melbex
 
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolic Acid
Mycophenolsaeure
Myfortic
3
Tacrolimusapproved, investigationalPhase 41023104987-11-3445643, 439492, 445647
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
FR900506
 
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
Hecoria
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
4MitogensPhase 41386
5Adrenocorticotropic HormonePhase 4, Phase 2133
6Melanocyte-Stimulating HormonesPhase 4, Phase 298
7Neurotransmitter AgentsPhase 414795
8Hormone AntagonistsPhase 4, Phase 210002
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 29988
10EndorphinsPhase 447
11beta-endorphinPhase 4, Phase 299
12HormonesPhase 4, Phase 211748
13Immunosuppressive AgentsPhase 410422
14Immunologic FactorsPhase 418483
15Anti-Bacterial AgentsPhase 49140
16Antibiotics, AntitubercularPhase 45971
17Calcineurin InhibitorsPhase 41223
18Complement System ProteinsPhase 2190

Interventional clinical trials:

idNameStatusNCT IDPhase
1Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)CompletedNCT01028287Phase 4
2Mycophenolate Mofetil and Tacrolimus Versus Tacrolimus for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG)Active, not recruitingNCT00843856Phase 4
3Acthar for Treatment of Proteinuria in Diabetic Nephropathy PatientsActive, not recruitingNCT01601236Phase 2
4Eculizumab in Primary MPGNActive, not recruitingNCT02093533Phase 2

Search NIH Clinical Center for Nephrotic Syndrome, Type 4

Genetic Tests for Nephrotic Syndrome, Type 4

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Anatomical Context for Nephrotic Syndrome, Type 4

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MalaCards organs/tissues related to Nephrotic Syndrome, Type 4:

33
Kidney

Animal Models for Nephrotic Syndrome, Type 4 or affiliated genes

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Publications for Nephrotic Syndrome, Type 4

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Variations for Nephrotic Syndrome, Type 4

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UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 4:

67
id Symbol AA change Variation ID SNP ID
1WT1p.His377TyrVAR_007748
2WT1p.Phe383LeuVAR_007749
3WT1p.Asp396AsnVAR_007751
4WT1p.Arg312GlnVAR_015053
5WT1p.Phe364LeuVAR_043801
6WT1p.Gly379CysVAR_043804
7WT1p.Cys388ArgVAR_043805
8WT1p.His397ProVAR_043810

Clinvar genetic disease variations for Nephrotic Syndrome, Type 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_024426.4(WT1): c.1384C> T (p.Arg462Trp)single nucleotide variantPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_024426.4(WT1): c.1390G> A (p.Asp464Asn)single nucleotide variantPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
3WT1NM_024426.4(WT1): c.1333C> T (p.His445Tyr)single nucleotide variantPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
4WT1NM_024426.4(WT1): c.1432+4C> Tsingle nucleotide variantPathogenicrs587776577GRCh38Chr 11, 32391968: 32391968
5WT1NM_024426.4(WT1): c.1351T> C (p.Phe451Leu)single nucleotide variantPathogenicrs28941777GRCh37Chr 11, 32413599: 32413599

Expression for genes affiliated with Nephrotic Syndrome, Type 4

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Search GEO for disease gene expression data for Nephrotic Syndrome, Type 4.

Pathways for genes affiliated with Nephrotic Syndrome, Type 4

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GO Terms for genes affiliated with Nephrotic Syndrome, Type 4

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Sources for Nephrotic Syndrome, Type 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet