autosomal dominant tubulointerstitial kidney disease 6

Term ID

DOID:0061121

Synonyms

• familial juvenile hyperuricemic nephropathy 6
• HNFJ6
• MCKD6
• medullary cystic kidney disease 6

Definition

An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/38096951/

References

• MIM:621106

Ontology

Human Disease   ( DOID:0061121 )