autosomal dominant tubulointerstitial kidney disease 4

Term ID

DOID:0061119

Synonyms

• familial juvenile hyperuricemic nephropathy 4
• HNFJ4
• MCKD4
• medullary cystic kidney disease 4

Definition

An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. https://pubmed.ncbi.nlm.nih.gov/19664745/

References

• MIM:613092
• ORDO:217330

Ontology

Human Disease   ( DOID:0061119 )