MCID: NPH047
MIFTS: 23

Nephrotic Syndrome, Type 4 malady

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

Aliases & Classifications for Nephrotic Syndrome, Type 4

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Aliases & Descriptions for Nephrotic Syndrome, Type 4:

Name: Nephrotic Syndrome, Type 4 50 12
Isolated Diffuse Mesangial Sclerosis 68
 
Nephrotic Syndrome 4 68
Nphs4 68

Characteristics:

HPO:

62
nephrotic syndrome, type 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive, childhood onset


Classifications:



External Ids:

OMIM50 256370
MeSH37 D009404

Summaries for Nephrotic Syndrome, Type 4

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UniProtKB/Swiss-Prot:68 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 denys-drash syndrome, and has symptoms including focal segmental glomerulosclerosis, renal insufficiency and nephrotic syndrome. An important gene associated with Nephrotic Syndrome, Type 4 is WT1 (Wilms Tumor 1). Affiliated tissues include kidney.

OMIM:50 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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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 renal insufficiency HP:0000083
3 nephrotic syndrome HP:0000100
4 diffuse mesangial sclerosis HP:0001967
5 nephroblastoma HP:0002667

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1beta-endorphinPhase 4, Phase 2117
2
Mycophenolic acidPhase 491924280-93-1446541
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
Mycophenolsäure
Myfortic
3
TacrolimusPhase 41058104987-11-3445643, 439492
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
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
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
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 (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
4
Mycophenolate mofetilPhase 4919128794-94-55281078
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 (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
5
TemozolomidePhase 267985622-93-15394
Synonyms:
3,4-Dihydro-3-methyl-4-oxoimidazo(5,1-d)-1,2,3,5-tetrazine-8-carboxamide
3,4-Dihydro-3-methyl-4-oxoimidazo(5,1-d)-as-tetrazine-8-carboxamide
3,4-dihydro-3-Methyl-4-oxoimidazo(5,1-D)-1,2,3,5-tetrazine-8-carboxamide
3,4-dihydro-3-Methyl-4-oxoimidazo(5,1-D)-as-tetrazine-8-carboxamide
3-Methyl-4-oxo-3,4-dihydroimidazo(5,1-D)(1,2,3,5)tetrazine-8-carboxamide
3-Methyl-4-oxo-3,4-dihydroimidazo(5,1-d)(1,2,3,5)tetrazine-8-carboxamide
3-Methyl-4-oxo-3,4-dihydroimidazo[5,1-d][1,2,3,5]tetraazine-8-carboxamide
3-methyl-4-oxo-3,4-dihydroimidazo[5,1-d][1,2,3,5]tetrazine-8-carboxamide
3-methyl-4-oxoimidazo[5,1-d][1,2,3,5]tetrazine-8-carboxamide
8-Carbamoyl-3-methylimidazo(5,1-D)-1,2,3,5-tetrazin-4(3H)-one
8-Carbamoyl-3-methylimidazo(5,1-d)-1,2,3,5-tetrazin-4(3H)-one
85622-93-1
AC-758
AC1L1K9B
BIDD:GT0204
BRN 5547136
Bio-0147
C047246
C6H6N6O2
CCRG 81045
CCRG-81045
CCRIS 8996
CHEBI:153686
CHEMBL810
CID5394
CPD000466338
D06067
DB00853
Essex brand of temozolomide
HMS2051O12
HMS2090B08
I06-0149
I14-1943
LS-80558
M B 39831
M & B 39831
M&B 39831
M&B-39831
 
M-39831
MB 39831
MLS000759447
MLS001424028
MLS002701861
Methazolastone
NCGC00167429-01
NCGC00167429-02
NCI60_003316
NSC 362856
NSC-362856
NSC362856
SAM001246636
SMR000466338
STK623541
Sch 52365
Sch-52365
Schering brand of temozolomide
Schering-Plough brand of temozolomide
TL8005593
TMZ
TMZ-Bioshuttle
Temodal
Temodal (TN)
Temodar
Temozolamide
Temozolodida
Temozolodida [Spanish]
Temozolomid
Temozolomida
Temozolomide (JAN/USAN/INN)
Temozolomide [INN:BAN]
Temozolomidum
Temozolomidum [Latin]
Témozolomide
UNII-YF1K15M17Y
ZINC01482184
m & b 39831
temozolomide
6
DacarbazinePhase 26514342-03-45351166
Synonyms:
(5E)-5-(dimethylaminohydrazinylidene)imidazole-4-carboxamide
(5Z)-5-(dimethylaminohydrazinylidene)imidazole-4-carboxamide
(Dimethyltriazeno)imidazolecarboxamide
37626-23-6
4(5)-(3,3-Dimethyl-1-triazeno)imidazole-4-carboxamide
4(5)-(3,3-Dimethyl-1-triazeno)imidazole-5(4)-carboxamide
4-(3,3-Dimethyl-1-triazeno)imidazole-5-carboxamide
4-(3,3-Dimethyltriazeno)imidazole-5-carboxamide
4-(5)-(3,3-Dimethyl-1-triazeno)imidazole-5(4)-carboxamide
4-(Dimethyltriazeno)imidazole-5-c arboxamide
4-(Dimethyltriazeno)imidazole-5-carboxamide
4-(or 5)-(3,3-Dimethyl-1-triazeno)imidazole-5(or 4)-carboxamide
4-(or 5)-(3,3-Dimethyl-1-triazeno)imidazole-5(or 4)-carboxamide
4-[(1E)-3,3-Dimethyltriaz-1-en-1-yl]-1H-imidazole-5-carboxamide
4-[3,3-dimethyltriaz-1-en-1-yl]-1H-imidazole-5-carboxamide
4342-03-4
5(or 4)-(dimethyltriazeno)imidazol e-4(or 5)-carboxamide
5(or 4)-(dimethyltriazeno)imidazole-4(or 5)-carboxamide
5-(3,3-Dimethyl-1-triazeno)imidazole-4-carboxamide
5-(3,3-Dimethyl-1-triazenyl)-1H-imidazole-4-carboxamide
5-(3,3-Dimethyl-1-triazenyl)imidazole-4-carboxamide
5-(3,3-Dimethyltri azeno)imidazole-4-carboxamide
5-(3,3-Dimethyltriazeno)-imidazole-4-carbamide
5-(3,3-Dimethyltriazeno)imidazole-4-carboxamide
5-(3,3-dimethyltriaz-1-en-1-yl)-1H-imidazole-4-carboxamide
5-(Dimethyltriazeno)-4-imidazolecarboxamide
5-(Dimethyltriazeno)imidazole-4-carboxamide
5-(Dimethyltriazeno)imidazole-4-carboximide
5-(dimethylaminohydrazinylidene)imidazole-4-carboxamide
5-[3,3-Dimethyl-1-triazenyl]imidazole-4-carboxamide
94361-71-4
AC1NQXVV
AC1NS01W
AC1NS4BN
AI3-52825
BPBio1_000428
BRD-K35520305-001-07-8
BSPBio_000388
BSPBio_002091
Biocarbazin
Biocarbazine
Biocarbazine R
C6H10N6O
CAS-891986
CCRIS 190
CHEBI:4305
CHEMBL476
CID5281007
CID5351166
CID5353562
Carboxamide, Dimethyl Imidazole
D00288
D003606
D2390_SIGMA
D3634
DB00851
DIC
DTCI
DTIC
DTIC Dome
DTIC, DTIC-Dome, Dacarbazine
DTIC-Dome
DTICDome
DTIE
Dacarbazin
Dacarbazina
Dacarbazine
Dacarbazine (JAN/USP/INN)
Dacarbazine [USAN:INN:BAN:JAN]
Dacarbazino
Dacarbazino [INN-Spanish]
Dacarbazinum
Dacarbazinum [INN-Latin]
 
Dacatic
Decarbazine
Deticene
Di-me-triazenoimidazolecarboxamide
Di-methyl-triazenoimidazolecarboxamide
Dimethyl Imidazole Carboxamide
Dimethyl Triazeno Imidazole Carboxamide
Dimethyltriazenoimidazolecarboxamide
DivK1c_000326
Dtic-Dome
Dtic-Dome (TN)
Dtic-dome (tn)
EINECS 224-396-1
HE1150000
HMS1569D10
HMS2090A20
HMS2091I20
HMS501A08
HSDB 3219
I06-2280
I14-1659
ICDMT
ICDT
IDI1_000326
Imidazole Carboxamide
Imidazole Carboxamide, Dimethyl
Imidazole carboxamide
KBio1_000326
KBio2_001364
KBio2_003932
KBio2_006500
KBio3_001311
KBioGR_000896
KBioSS_001364
LS-119
MLS001332543
MLS001332544
MolPort-003-666-153
MolPort-003-846-120
MolPort-006-709-420
NCGC00016986-01
NCGC00091861-01
NCGC00091861-02
NCGC00091861-03
NCGC00091861-04
NCI-C04717
NCI60_004053
NCIMech_000261
NINDS_000326
NIOSH/HE1150000
NPFAPI-05
NSC 45388
NSC-45388
NSC45388
Prestwick0_000574
Prestwick1_000574
Prestwick2_000574
Prestwick3_000574
Prestwick_904
S1221_Selleck
SMP2_000251
SMR000857131
SPBio_001075
SPBio_002607
SPECTRUM1500218
ST51014976
Spectrum2_001148
Spectrum3_000366
Spectrum4_000308
Spectrum5_000823
Spectrum_000884
UNII-7GR28W0FJI
WLN: T5M CNJ DVZ ENUNN1&1
dacarbazine
7
BevacizumabPhase 21938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
8Alkylating AgentsPhase 24573

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
3Temozolomide Plus Bevacizumab in Supratentorial Glioblastoma in 70 Years and Older Patients With an Impaired Functional StatusCompletedNCT02898012Phase 2
4Acthar for Treatment of Proteinuria in Diabetic Nephropathy PatientsActive, not recruitingNCT01601236Phase 2
5Eculizumab in Primary MPGNActive, not recruitingNCT02093533Phase 2
6Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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:

34
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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet