MCID: STR044
MIFTS: 31

Steroid-Resistant Nephrotic Syndrome malady

Nephrological diseases category

Summaries for Steroid-Resistant Nephrotic Syndrome

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32MalaCards
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MalaCards: Steroid-Resistant Nephrotic Syndrome, also known as nephrotic syndrome, steroid-resistant, autosomal recessive, is related to nephrotic syndrome and focal segmental glomerulosclerosis. 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. Related mouse phenotypes are liver/biliary system and cellular.

Aliases & Classifications for Steroid-Resistant Nephrotic Syndrome

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20GeneTests, 60UMLS
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Classifications:

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


Aliases & Descriptions:

steroid-resistant nephrotic syndrome 20 60
nephrotic syndrome, steroid-resistant, autosomal recessive 60


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
1nephrotic syndrome32.0ALB, SMARCAL1, ACTN4, KIRREL, LMX1B, PLCE1
2focal segmental glomerulosclerosis30.8WT1, NPHS1, NPHS2, CD2AP, ACTN4, ALB
3proteinuria30.6WT1, NPHS1, NPHS2, CD2AP, NAGLU, KIRREL
4peritonitis30.3ALB
5glomerulonephritis30.3NPHS1, NPHS2, CD2AP, NAGLU, ACTN4, ALB
6familial nephrotic syndrome10.7
7adult syndrome10.5
8focal glomerulosclerosis10.5
9hypothyroidism10.4
10nephrotic syndrome, idiopathic, steroid-resistant10.4
11sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis10.4
12nephrotic syndrome, type 210.4
13nephrotic syndrome, type 410.4
14sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.4
15sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes10.4
16sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.4
17sporadic idiopathic steroid-resistant nephrotic syndrome10.4
18sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy10.4
19anuria10.2
20x-linked ichthyosis10.2
21fg syndrome10.2
22cerebritis10.2
23systemic lupus erythematosus10.2
24sagittal sinus thrombosis10.2
25west syndrome10.2
26proliferative glomerulonephritis10.2
27mesangial proliferative glomerulonephritis10.2
28smoldering myeloma10.2
29acute kidney failure10.2
30food allergy10.2
31lupus erythematosus10.2
32lymphopenia10.2
33multiple myeloma10.2
34myeloma10.2
35thymoma10.2
36nephrotic syndrome, type 610.2
37coenzyme q10 deficiency, primary, 610.2
38nephrotic syndrome, type 110.2
39glomerulosclerosis, focal segmental, 410.2
40frasier syndrome10.0WT1
41denys-drash syndrome10.0WT1
42liver cirrhosis10.0ALB
43chronic pyelonephritis10.0NAGLU
44nephrosis10.0NPHS1, NPHS2, ACTN4
45pancreatitis10.0ALB
46diffuse mesangial sclerosis10.0NPHS2, NPHS1, WT1
47clear cell sarcoma10.0WT1, ATF1
48disseminated intravascular coagulation10.0PPBP, F9
49lupus nephritis10.0NAGLU, ALB
50nail-patella syndrome10.0LMX1B, CD2AP, NPHS2

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

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Drugs & Therapeutics for Steroid-Resistant Nephrotic Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Animal Models for Steroid-Resistant Nephrotic Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Steroid-Resistant Nephrotic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0F9, WT1, NEIL1, NAGLU, ALB, RELA
2MP:00053848.9CD2AP, RELA, NAGLU, LMX1B, WT1, EVC
3MP:00053878.8CD2AP, SMARCAL1, ACTN4, NAGLU, RELA, NEIL1
4MP:00053858.8ACTN4, NPHS2, PLCE1, RELA, F9, CD2AP
5MP:00053788.7CD2AP, SMARCAL1, NPHS2, NEIL1, RELA, NAGLU
6MP:00053678.4ACTN4, WT1, ALB, SMARCAL1, KIRREL, LMX1B
7MP:00053768.0ACTN4, SMARCAL1, LMX1B, PLCE1, RELA, KIRREL
8MP:00107687.7LMX1B, RELA, CD2AP, MYO1E, ATF1, FAT1

Publications for Steroid-Resistant Nephrotic Syndrome

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Genetic Variations for Steroid-Resistant Nephrotic Syndrome

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Expression for genes affiliated with Steroid-Resistant Nephrotic Syndrome

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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

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53Reactome, 37NCBI 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
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9.9PPBP, ACTN4, ALB
29.8KIRREL, NPHS1, CD2AP, NPHS2
39.7CD2AP, NPHS1, ACTN4, KIRREL, NPHS2
4
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9.7NPHS1, NPHS2, CD2AP, KIRREL, ACTN4

Compounds for genes affiliated with Steroid-Resistant Nephrotic Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Steroid-Resistant Nephrotic Syndrome according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside4410.4CD2AP, NPHS2, NPHS1
2iodixanol4410.4NAGLU, PPBP
3iopentol4410.4ALB, NAGLU
4p-aminohippuric acid4410.4NAGLU, ALB
5inulin4410.3ALB, NAGLU
6tween 804410.3F9, ALB
7acenocoumarol44 49 1112.2ALB, F9
8desmopressin44 59 28 1113.2NAGLU, PPBP, F9
9iohexol4410.2PPBP, NAGLU, ALB
10phenprocoumon44 49 1112.2ALB, F9
11fructosamine44 2411.1NAGLU, ALB
12aprotinin44 1111.1F9, PPBP, NAGLU
13warfarin44 49 11 2413.1ALB, PPBP, F9
14cytosine44 2411.0NEIL1, WT1, F9
15hyaluronic acid44 2411.0WT1, PPBP, NAGLU, ALB
16citrate4410.0F9, PPBP, NAGLU, ALB
17homocysteine44 2410.9ALB, NAGLU, F9
18latex449.8F9, PPBP, NAGLU
19steroid449.8WT1, NPHS1, NPHS2, ATF1, CD2AP, NAGLU
20creatinine449.6F9, WT1, NPHS1, NPHS2, PPBP, NAGLU
21glucose449.5F9, NPHS1, PPBP, ATF1, NAGLU, ALB
22lipid449.5F9, NPHS1, NPHS2, PPBP, CD2AP, NAGLU
23calcium44 49 11 2411.9F9, NPHS1, NPHS2, PPBP, ATF1, RELA
24serine448.9F9, WT1, NPHS1, PPBP, ATF1, RELA

GO Terms for genes affiliated with Steroid-Resistant Nephrotic Syndrome

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet