autosomal dominant tubulointerstitial kidney disease 2

Term ID

DOID:0061118

Synonyms

• familial juvenile hyperuricemic nephropathy 2
• HNFJ2
• MCKD2
• medullary cystic kidney disease 2

Definition

An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. https://pubmed.ncbi.nlm.nih.gov/31488840/

References

• MIM:174000

Ontology

Human Disease   ( DOID:0061118 )