Details of Disease | DrugMAP

General Information of Disease (ID: DIS3PLLZ)

Disease Name	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Synonyms	medullary cystic kidney disease; MCKD; medullary cystic disease; autosomal dominant tubulointerstitial kidney disease; polycystic kidneys, medullary type; autosomal dominant interstitial kidney disease; autosomal dominant medullary cystic kidney disease; autosomal dominant medullary cystic kidney disease with or without hyperuricemia; ADTKD
Definition	A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1 (HNF1B), renin (REN), or mucin-1 (MUC1).
Disease Hierarchy	DISW7APC: Familial cystic renal disease DIS3HIWD: Autosomal dominant disease DIS3PLLZ: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Disease Identifiers	MONDO ID MONDO_0008264 UMLS CUI C4511620 MedGen ID 1377523 Orphanet ID 34149 SNOMED CT ID 726018006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UMOD	OTHP6Y7F	Definitive	Autosomal dominant	[1]
ACSM3	OT0AE1IV	moderate	Genetic Variation	[4]
CRELD2	OTL73AO8	moderate	Genetic Variation	[5]
INVS	OT8KPESR	moderate	Genetic Variation	[6]
LAMB2	OT71OI2Y	moderate	Biomarker	[7]
NPHS1	OT21JD3P	moderate	Genetic Variation	[7]
NPHS2	OTLCNUII	moderate	Genetic Variation	[7]
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⏷ Show the Full List of 7 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MLYCD	TT9Z4YD	moderate	Genetic Variation	[2]
MUC1	TTBHFYQ	moderate	Genetic Variation	[3]
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References

1	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.
2	Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.Nephrol Dial Transplant. 1998 Aug;13(8):1955-7. doi: 10.1093/ndt/13.8.1955.
3	Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.Ren Fail. 2019 Nov;41(1):832-841. doi: 10.1080/0886022X.2019.1655452.
4	Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12.J Nephrol. 2001 Sep-Oct;14(5):392-6.
5	Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.JCI Insight. 2017 Dec 7;2(23):e92896. doi: 10.1172/jci.insight.92896.
6	Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.Kidney Int. 2002 Oct;62(4):1385-94. doi: 10.1111/j.1523-1755.2002.kid581.x.
7	Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.Pediatr Nephrol. 2019 Sep;34(9):1493-1500. doi: 10.1007/s00467-018-4031-2. Epub 2018 Aug 11.