Details of Disease | DrugMAP

General Information of Disease (ID: DISCWU1L)

Disease Name	Hematuria, benign familial
Disease Hierarchy	DISYKSRF: Genetic disease DISCWU1L: Hematuria, benign familial
Disease Identifiers	MONDO ID MONDO_0957317 MESH ID C562476 UMLS CUI C0241908 OMIM ID 141200 MedGen ID 66039 SNOMED CT ID 236418003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A3	OT6SB8X5	Limited	Genetic Variation	[1]
NPHS2	OTLCNUII	Limited	Biomarker	[2]
C1QL1	OTNQ0G3E	Strong	Biomarker	[3]
COL4A4	OT9G0MCT	Strong	Genetic Variation	[4]
COL4A5	OTHG60RE	Strong	Genetic Variation	[5]
IGBP1	OTTHH4YE	Strong	Genetic Variation	[6]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

References

1	Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.Hear Res. 2019 Sep 15;381:107769. doi: 10.1016/j.heares.2019.07.006. Epub 2019 Jul 13.
2	Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.Nephron. 2015;130(3):200-12. doi: 10.1159/000432406. Epub 2015 Jun 26.
3	Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. doi: 10.1093/ndt/gfp158. Epub 2009 Apr 8.
4	The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.Cytogenet Genome Res. 2018;154(3):132-136. doi: 10.1159/000488163. Epub 2018 May 9.
5	Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22.
6	Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria.Clin Nephrol. 2003 Sep;60(3):195-200. doi: 10.5414/cnp60195.