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tubulointerstitial kidney disease, autosomal dominant, 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0020726

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. [ ]

Term info

Label

tubulointerstitial kidney disease, autosomal dominant, 2

Synonyms
  • ADTKD-MUC1
  • MCKD1
  • MUC1-related autosomal dominant medullary cystic kidney disease
  • MUCI-related ADTKD
  • autosomal dominant medullary cystic kidney disease without hyperuricemia
  • autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1
  • medullary cystic kidney disease 1
  • medullary cystic kidney disease type 1
  • medullary cystic kidney disease, autosomal dominant
database cross reference
Subsets

ordo_clinical_subtype

exactMatch

http://purl.obolibrary.org/obo/Orphanet_88949, http://purl.obolibrary.org/obo/NCIT_C123171, http://linkedlifedata.com/resource/umls/id/C1868139, https://omim.org/entry/174000

has related synonym

ADMCKD1, MUC1-related autosomal dominant tubulointerstitial kidney disease, polycystic kidneys, medullary type, Mckd

id

MONDO:0020726

narrowMatch

https://icd.codes/icd10cm/Q61.5

see also

https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations