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Autosomal Dominant Medullary Cystic Kidney Disease With Or Without Hyperuricemia (MONDO:0008264)

A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).

Overview

Category

urinary system disorder

Ontology ID

MONDO:0008264

Internal:9571

Synonyms

ADTKD

autosomal dominant interstitial kidney disease

autosomal dominant medullary cystic kidney disease

autosomal dominant medullary cystic kidney disease with or without hyperuricemia

MCKD

autosomal dominant tubulointerstitial kidney disease

medullary cystic disease

medullary cystic kidney disease

polycystic kidneys, medullary type

Mapped terms

GARD:0010801

MEDGEN:1377523

MESH:C536137

Orphanet:34149

SCTID:444699000

UMLS:C4511620

icd11.foundation:216863438

Child terms

MONDO:0008073

MONDO:0020726

Results

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