MCID: FML268
MIFTS: 6

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

MalaCards integrated aliases for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes:

Name: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 58

Characteristics:

Orphanet epidemiological data:

58
familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Orphanet 58 ORPHA93216

Summaries for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

MalaCards based summary : Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes An important gene associated with Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes is PTPRO (Protein Tyrosine Phosphatase Receptor Type O).

Related Diseases for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Diseases in the Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes family:

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

Symptoms & Phenotypes for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Drugs & Therapeutics for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Search Clinical Trials , NIH Clinical Center for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

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Anatomical Context for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

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Variations for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

ClinVar genetic disease variations for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPRO NM_030667.3(PTPRO):c.2627+1G>TSNV Pathogenic 30110 12:15710458-15710458 12:15557524-15557524
2 PTPRO NM_030667.3(PTPRO):c.2829+1G>ASNV Pathogenic 30111 12:15722433-15722433 12:15569499-15569499

Expression for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Search GEO for disease gene expression data for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes.

Pathways for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

GO Terms for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Sources for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

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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