Details of Disease

General Information of Disease (ID: DISRRBM2)

• Disease Name: Tubulointerstitial kidney disease, autosomal dominant, 2
• Synonyms: Mckd; ADMCKD1; polycystic kidneys, medullary type; MUC1-related autosomal dominant tubulointerstitial kidney disease; MUCI-related ADTKD; medullary cystic kidney disease, autosomal dominant; autosomal dominant medullary cystic kidney disease without hyperuricemia; ADTKD-MUC1; medullary cystic kidney disease type 1; MCKD1; MUC1-related autosomal dominant medullary cystic kidney disease; medullary cystic kidney disease 1; autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1
• Definition: An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.
• Disease Hierarchy:
  DIS3PLLZ: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
  DIS6ATU4: Familial juvenile hyperuricemic nephropathy
  DISRRBM2: Tubulointerstitial kidney disease, autosomal dominant, 2
• Disease Identifiers:
  MONDO ID: MONDO_0020726
  MESH ID: C536137
  UMLS CUI: C1868139
  OMIM ID: 174000
  MedGen ID: 358137
  Orphanet ID: 88949
  SNOMED CT ID: 726017001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MUC1	TTBHFYQ	Strong	Biomarker	[1]
MUC1	TTBHFYQ	Definitive	Autosomal dominant	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INVS	OT8KPESR	Strong	Genetic Variation	[3]
NPHP3	OT8U8ELA	Strong	Genetic Variation	[3]
MUC1	OTHQI7IY	Definitive	Autosomal dominant	[2]

References

• [1] Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.Nephrol Dial Transplant. 2017 Dec 1;32(12):2010-2017. doi: 10.1093/ndt/gfx083.
• [2] 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.
• [3] New insights: nephronophthisis-medullary cystic kidney disease.Pediatr Nephrol. 2001 Feb;16(2):168-76. doi: 10.1007/s004670000518.