Details of Disease

General Information of Disease (ID: DISQ53RS)

Disease Name Familial idiopathic steroid-resistant nephrotic syndrome
Synonyms familial idiopathic nephrotic syndrome
Definition Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.
Disease Hierarchy
DISVEBC9: Steroid-resistant nephrotic syndrome
DISADF8G: Familial nephrotic syndrome
DISV4XYG: Idiopathic nephrotic syndrome
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
Disease Identifiers
MONDO ID
MONDO_0019006
UMLS CUI
C4273714
MedGen ID
902527
Orphanet ID
656
SNOMED CT ID
718141008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 27 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WT1 OTP7KC3D Supportive Autosomal dominant [1]
ACTN4 OTCNZAJ5 Supportive Autosomal dominant [3]
ANKFY1 OTHT028D Supportive Autosomal dominant [4]
ANLN OTXJY54C Supportive Autosomal dominant [5]
ARHGAP24 OTCQCEZS Supportive Autosomal dominant [6]
ARHGDIA OTEXWJDO Supportive Autosomal dominant [7]
CD2AP OTC76KQM Supportive Autosomal dominant [8]
COQ8B OTBY50BD Supportive Autosomal dominant [9]
CRB2 OTG0L2CE Supportive Autosomal dominant [10]
EMP2 OTPS2H0L Supportive Autosomal dominant [11]
GAPVD1 OT5K42IK Supportive Autosomal dominant [4]
INF2 OT8ZM13C Supportive Autosomal dominant [12]
MYO1E OTM9YSIZ Supportive Autosomal dominant [13]
NPHS1 OT21JD3P Supportive Autosomal dominant [14]
NPHS2 OTLCNUII Supportive Autosomal dominant [15]
NUP107 OTG4RDYS Supportive Autosomal dominant [16]
NUP133 OTC294HE Supportive Autosomal dominant [17]
NUP160 OTUKVV3I Supportive Autosomal dominant [17]
NUP205 OTJKHCY6 Supportive Autosomal dominant [18]
NUP37 OTPZH72U Supportive Autosomal dominant [17]
NUP85 OTB5ZHC8 Supportive Autosomal dominant [17]
NUP93 OT4J2VAL Supportive Autosomal dominant [18]
PAX2 OTKP1N8F Supportive Autosomal dominant [19]
PLCE1 OTJISZOX Supportive Autosomal dominant [20]
PTPRO OTFLKWOY Supportive Autosomal dominant [21]
TBC1D8B OTSYGOXH Supportive Autosomal dominant [22]
TRPC6 OT5J7HVM Supportive Autosomal dominant [2]
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⏷ Show the Full List of 27 DOT(s)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPC6 TTRBT3W Supportive Autosomal dominant [2]
WT1 TTZ8UT4 Supportive Autosomal dominant [1]
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References

1 A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2010 Apr;5(4):698-702. doi: 10.2215/CJN.05670809. Epub 2010 Feb 11.
2 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science. 2005 Jun 17;308(5729):1801-4. doi: 10.1126/science.1106215. Epub 2005 May 5.
3 Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000 Mar;24(3):251-6. doi: 10.1038/73456.
4 GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 Aug;29(8):2123-2138. doi: 10.1681/ASN.2017121312. Epub 2018 Jun 29.
5 Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. doi: 10.1681/ASN.2013090976. Epub 2014 Mar 27.
6 Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest. 2011 Oct;121(10):4127-37. doi: 10.1172/JCI46458. Epub 2011 Sep 12.
7 ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet. 2013 May;50(5):330-8. doi: 10.1136/jmedgenet-2012-101442. Epub 2013 Feb 22.
8 Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int. 2007 Nov;72(10):1198-203. doi: 10.1038/sj.ki.5002469. Epub 2007 Aug 22.
9 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.
10 Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 8;96(1):153-61. doi: 10.1016/j.ajhg.2014.11.014. Epub 2014 Dec 31.
11 Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 5;94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010. Epub 2014 May 8.
12 Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan;42(1):72-6. doi: 10.1038/ng.505. Epub 2009 Dec 20.
13 MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med. 2011 Jul 28;365(4):295-306. doi: 10.1056/NEJMoa1101273. Epub 2011 Jul 14.
14 Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet. 2002 Feb 15;11(4):379-88. doi: 10.1093/hmg/11.4.379.
15 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2002 Feb;13(2):388-393. doi: 10.1681/ASN.V132388.
16 Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24.
17 Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
18 Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15.
19 Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27.
20 Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.
21 Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.
22 TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17.