MCID: STR044
MIFTS: 40

Steroid-Resistant Nephrotic Syndrome malady

Nephrological category

Summaries for Steroid-Resistant Nephrotic Syndrome

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33MalaCards
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MalaCards: Steroid-Resistant Nephrotic Syndrome, also known as nephrotic syndrome, steroid-resistant, autosomal recessive, is related to focal segmental glomerulosclerosis and wilms tumor. An important gene associated with Steroid-Resistant Nephrotic Syndrome is NPHS2 (nephrosis 2, idiopathic, steroid-resistant (podocin)), and among its related pathways are Platelet degranulation and Nephrin/Neph1 signaling in the kidney podocyte. The compounds puromycin aminonucleoside and iodixanol have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and t cells, and related mouse phenotypes are liver/biliary system and cellular.

Aliases & Classifications for Steroid-Resistant Nephrotic Syndrome

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20GeneTests, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Aliases & Descriptions:

steroid-resistant nephrotic syndrome 20 61
nephrotic syndrome, steroid-resistant, autosomal recessive 61


Related Diseases for Steroid-Resistant Nephrotic Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Steroid-Resistant Nephrotic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1focal segmental glomerulosclerosis30.9WT1, NPHS1, NPHS2, CD2AP, ACTN4, ALB
2wilms tumor30.6WT1, NPHS1, NPHS2, CD2AP, ACTN4
3nephrosis30.3NPHS1, NPHS2, ACTN4
4n syndrome11.4
5nephrotic syndrome, idiopathic, steroid-resistant10.8
6familial nephrotic syndrome10.6
7adult syndrome10.6
8focal glomerulosclerosis10.6
9kid syndrome10.5
10sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis10.5
11char syndrome10.4
12nephrotic syndrome, type 210.4
13hypothyroidism, autoimmune10.4
14nephrotic syndrome, type 410.4
15sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.4
16sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes10.4
17sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.4
18sporadic idiopathic steroid-resistant nephrotic syndrome10.4
19sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy10.4
20kimura disease10.2
21anuria10.2
22systemic lupus erythematosus10.2
23sagittal sinus thrombosis10.2
24west syndrome10.2
25proliferative glomerulonephritis10.2
26mesangial proliferative glomerulonephritis10.2
27smoldering myeloma10.2
28acute kidney failure10.2
29thymoma10.2
30short syndrome10.2
31young syndrome10.2
32bod syndrome10.2
33cardiovascular disease risk factor10.2
34nephrotic syndrome, type 610.2
35coenzyme q10 deficiency, primary, 610.2
36nephrotic syndrome, type 110.2
37glomerulosclerosis, focal segmental, 410.2
38frasier syndrome10.0WT1
39denys-drash syndrome10.0WT1
40liver cirrhosis10.0ALB
41chronic pyelonephritis10.0NAGLU
42pancreatitis10.0ALB
43diffuse mesangial sclerosis10.0NPHS2, NPHS1, WT1
44clear cell sarcoma10.0WT1, ATF1
45disseminated intravascular coagulation10.0PPBP, F9
46peritonitis10.0ALB
47lupus nephritis10.0NAGLU, ALB
48nail-patella syndrome10.0LMX1B, CD2AP, NPHS2
49hemorrhagic disease10.0PPBP, F9
50hepatopulmonary syndrome10.0ALB

Graphical network of the top 20 diseases related to Steroid-Resistant Nephrotic Syndrome:



Diseases related to steroid-resistant nephrotic syndrome

Clinical Features for Steroid-Resistant Nephrotic Syndrome

Drugs & Therapeutics for Steroid-Resistant Nephrotic Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Steroid-Resistant Nephrotic Syndrome

Drug clinical trials:

Search ClinicalTrials for Steroid-Resistant Nephrotic Syndrome

Search NIH Clinical Center for Steroid-Resistant Nephrotic Syndrome

Search CenterWatch for Steroid-Resistant Nephrotic Syndrome

Genetic Tests for Steroid-Resistant Nephrotic Syndrome

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20GeneTests
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Genetic tests related to Steroid-Resistant Nephrotic Syndrome:

id Genetic test Affiliating Genes
1 Steroid-resistant Nephrotic Syndrome20 NPHS2

Anatomical Context for Steroid-Resistant Nephrotic Syndrome

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33MalaCards
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MalaCards organs/tissues related to Steroid-Resistant Nephrotic Syndrome:

33
Kidney, Heart, T cells, B cells

Animal Models for Steroid-Resistant Nephrotic Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Steroid-Resistant Nephrotic Syndrome

Sources:
51PubMed
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Articles related to Steroid-Resistant Nephrotic Syndrome:

(show top 50)    (show all 228)
idTitleAuthorsYear
1
Steroid-resistant nephrotic syndrome: impact of genetic testing. (24413855)
2013
2
254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children. (23999069)
2013
3
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. (23242530)
2013
4
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (24270420)
2013
5
NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. (22080622)
2012
6
Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature. (22419362)
2012
7
Proteomic profiling identifies haptoglobin as a potential serum biomarker for steroid-resistant nephrotic syndrome. (22759352)
2012
8
Insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme gene in steroid-resistant nephrotic syndrome for children: an updated meta-analysis. (22264093)
2012
9
Hypothyroidism in children with steroid-resistant nephrotic syndrome. (22167590)
2012
10
Rituximab in steroid-resistant nephrotic syndrome in children: a (false) glimmer of hope? (22581992)
2012
11
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children. (21125408)
2011
12
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. (20947785)
2011
13
Mycophenolate mofetil in treatment of childhood steroid-resistant nephrotic syndrome. (21319130)
2011
14
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. (21415313)
2011
15
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. (21697813)
2011
16
Transition of severe diffuse mesangial hypercellularity to minimal change disease in a child with steroid-resistant nephrotic syndrome. (22105456)
2011
17
Insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme gene in steroid-resistant nephrotic syndrome for children: a genetic association study and meta-analysis. (21787164)
2011
18
TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. (21734084)
2011
19
Treatment of steroid resistant nephrotic syndrome in children. (20427873)
2010
20
Experience with tacrolimus in children with steroid-resistant nephrotic syndrome. (19499248)
2009
21
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. (19127206)
2009
22
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. (20001346)
2009
23
Monitoring of blood cyclosporine concentration in steroid-resistant nephrotic syndrome. (18797114)
2008
24
Urinary proteome profiling to search for biomarkers in steroid-resistant nephrotic syndrome. (18401159)
2008
25
Intracardiac thrombus--a rare complication of the steroid resistant nephrotic syndrome. (19348381)
2008
26
Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome. (18380020)
2007
27
Steroid resistant nephrotic syndrome recent developments. (16465000)
2006
28
Genetic testing comes of age: WT1 mutations in steroid-resistant nephrotic syndrome: commentary on the article by Mucha et al. on page 325. (16439572)
2006
29
Mizoribine pulse therapy for a pediatric patient with steroid-resistant nephrotic syndrome. (15635277)
2005
30
Enalapril dosage in steroid-resistant nephrotic syndrome. (14648339)
2004
31
Pulse cyclophosphamide therapy in steroid resistant nephrotic syndrome associated with mesangial proliferative glomerulonephritis. (17642763)
2004
32
Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family. (15264208)
2004
33
The benefit of plasmapheresis in a patient with steroid-resistant nephrotic syndrome and anuria--long-term follow-up]. (15615478)
2004
34
Decreased expression of T-cell NF-kappaB p65 subunit in steroid-resistant nephrotic syndrome. (15200413)
2004
35
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. (12761252)
2003
36
Pulse methylprednisolone treatment of idiopathic steroid-resistant nephrotic syndrome. (11956887)
2002
37
Significantly rapid relief from steroid-resistant nephrotic syndrome by LDL apheresis compared with steroid monotherapy. (11721158)
2001
38
Pediatric steroid-resistant nephrotic syndrome. (11733743)
2001
39
Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome" (10802674)
2000
40
Rapid normalization of interleukin-8 production after low-density lipoprotein apheresis in steroid-resistant nephrotic syndrome. (10412778)
1999
41
Body growth of children with steroid-resistant nephrotic syndrome. (10603130)
1999
42
Levamisole treatment in steroid-sensitive and steroid-resistant nephrotic syndrome. (9745868)
1998
43
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. (8606597)
1996
44
Neurotoxicity of Cyclosporine A in therapy of steroid resistant nephrotic syndrome in a 10-year old boy. (8711194)
1996
45
Hyperlipidaemia, diet and simvastatin therapy in steroid-resistant nephrotic syndrome of childhood. (8703704)
1996
46
Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. (7736684)
1995
47
Inefficacy and toxicity of pefloxacin in focal and segmental glomerulosclerosis with steroid-resistant nephrotic syndrome. (8099164)
1993
48
The role of cow's milk protein intolerance in steroid-resistant nephrotic syndrome. (1290843)
1992
49
Methylprednisolone treatment of patients with steroid-resistant nephrotic syndrome. (1482631)
1992
50
The effect of cyclophosphamide on children with steroid resistant nephrotic syndrome and its side effect upon the gonadal tissue. (1004929)
1976

Genetic Variations for Steroid-Resistant Nephrotic Syndrome

Expression for genes affiliated with Steroid-Resistant Nephrotic Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Steroid-Resistant Nephrotic Syndrome

Search GEO for disease gene expression data for Steroid-Resistant Nephrotic Syndrome.

Pathways for genes affiliated with Steroid-Resistant Nephrotic Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database
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Pathways related to Steroid-Resistant Nephrotic Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9ALB, ACTN4, PPBP
29.8NPHS1, NPHS2, CD2AP, KIRREL
39.7ACTN4, KIRREL, CD2AP, NPHS2, NPHS1
4
Hide members
9.7NPHS1, NPHS2, CD2AP, KIRREL, ACTN4

Compounds for genes affiliated with Steroid-Resistant Nephrotic Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Steroid-Resistant Nephrotic Syndrome according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside4510.4CD2AP, NPHS2, NPHS1
2iodixanol4510.4NAGLU, PPBP
3iopentol4510.4ALB, NAGLU
4p-aminohippuric acid4510.4NAGLU, ALB
5inulin4510.3ALB, NAGLU
6tween 804510.3F9, ALB
7acenocoumarol45 50 1112.2ALB, F9
8desmopressin45 60 29 1113.2NAGLU, PPBP, F9
9iohexol4510.2PPBP, NAGLU, ALB
10phenprocoumon45 50 1112.2ALB, F9
11fructosamine45 2411.1NAGLU, ALB
12aprotinin45 1111.1F9, PPBP, NAGLU
13warfarin45 50 11 2413.1ALB, PPBP, F9
14cytosine45 2411.0NEIL1, WT1, F9
15hyaluronic acid45 2411.0WT1, PPBP, NAGLU, ALB
16citrate4510.0F9, PPBP, NAGLU, ALB
17homocysteine45 2410.9ALB, NAGLU, F9
18latex459.8F9, PPBP, NAGLU
19steroid459.8WT1, NPHS1, NPHS2, ATF1, CD2AP, NAGLU
20creatinine459.6F9, WT1, NPHS1, NPHS2, PPBP, NAGLU
21glucose459.5F9, NPHS1, PPBP, ATF1, NAGLU, ALB
22lipid459.5F9, NPHS1, NPHS2, PPBP, CD2AP, NAGLU
23calcium45 50 11 2411.9F9, NPHS1, NPHS2, PPBP, ATF1, RELA
24serine458.9F9, WT1, NPHS1, PPBP, ATF1, RELA

GO Terms for genes affiliated with Steroid-Resistant Nephrotic Syndrome

Sources:
16Gene Ontology
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Cellular components related to Steroid-Resistant Nephrotic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:03605710.2NPHS2, NPHS1
2cell-cell junctionGO:0059119.6KIRREL, MYO1E, FAT1, NPHS2
3platelet alpha granule lumenGO:0310939.6ALB, ACTN4, PPBP

Biological processes related to Steroid-Resistant Nephrotic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:03283610.1MYO1E, NPHS1, WT1
2glomerular visceral epithelial cell developmentGO:07201510.0NPHS1, MYO1E
3excretionGO:00758810.0KIRREL, NPHS2, NPHS1
4platelet degranulationGO:0025769.9ALB, ACTN4, PPBP
5glomerulus developmentGO:0328359.8PLCE1, WT1

Molecular functions related to Steroid-Resistant Nephrotic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:01702210.1KIRREL, NPHS1
2protein bindingGO:0055157.8ALB, WT1, NPHS1, NPHS2, FAT1, ATF1

Products for genes affiliated with Steroid-Resistant Nephrotic Syndrome

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Sources for Steroid-Resistant Nephrotic Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet