Details of Disease | DrugMAP

General Information of Disease (ID: DIS25AB4)

Disease Name	Alport syndrome
Synonyms	hereditary nephritis; Alport's syndrome; Alport syndrome; Alport deafness-nephropathy
Definition	A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISECBR1: Hereditary nephritis DIS25AB4: Alport syndrome
Disease Identifiers	MONDO ID MONDO_0018965 MESH ID D009394 UMLS CUI C1567741 MedGen ID 339209 Orphanet ID 63 SNOMED CT ID 770414008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACE2	TTUI5H7	Limited	Altered Expression	[1]
ACVR2A	TTX2DRI	Strong	Biomarker	[2]
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This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMMECR1	OTWMQ67T	Strong	Biomarker	[3]
CFHR5	OT7BMOYE	Strong	Genetic Variation	[4]
COQ8B	OTBY50BD	Strong	Genetic Variation	[5]
IGBP1	OTTHH4YE	Strong	Genetic Variation	[6]
INF2	OT8ZM13C	Strong	Genetic Variation	[7]
LAMA5	OTIIXE4M	Strong	Biomarker	[8]
MYH9	OT94Z706	Strong	Genetic Variation	[9]
NPHP1	OTZHCFFQ	Strong	Genetic Variation	[5]
RHOV	OTW4N3QN	Strong	Biomarker	[9]
SOSTDC1	OTAKDNSM	Strong	Biomarker	[10]
COL4A3	OT6SB8X5	Definitive	Semidominant	[11]
COL4A4	OT9G0MCT	Definitive	Semidominant	[11]
COL4A5	OTHG60RE	Definitive	X-linked	[11]
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⏷ Show the Full List of 13 DOT(s)

References

1	Olmesartan Attenuates Kidney Fibrosis in a Murine Model of Alport Syndrome by Suppressing Tubular Expression of TGF.Int J Mol Sci. 2019 Aug 6;20(15):3843. doi: 10.3390/ijms20153843.
2	The activin receptor is stimulated in the skeleton, vasculature, heart, and kidney during chronic kidney disease.Kidney Int. 2018 Jan;93(1):147-158. doi: 10.1016/j.kint.2017.06.016. Epub 2017 Aug 23.
3	Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.Am J Med Genet A. 2019 Apr;179(4):650-654. doi: 10.1002/ajmg.a.61057. Epub 2019 Feb 8.
4	Epistatic role of the MYH9/APOL1 region on familial hematuria genes.PLoS One. 2013;8(3):e57925. doi: 10.1371/journal.pone.0057925. Epub 2013 Mar 14.
5	Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.Eur J Hum Genet. 2020 Feb;28(2):244-252. doi: 10.1038/s41431-019-0523-1. Epub 2019 Oct 1.
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.
7	Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.Neth J Med. 2016 Feb;74(2):82-5.
8	COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?.BMC Nephrol. 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5.
9	Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.J Am Soc Nephrol. 2003 Jul;14(7):1794-803. doi: 10.1097/01.asn.0000071513.73427.97.
10	Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.J Clin Invest. 2010 Mar;120(3):768-77. doi: 10.1172/JCI39569. Epub 2010 Feb 8.
11	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.