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

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]

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]

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.