Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Dent disease

Disease definition

A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.


Classification level: Disorder
  • Synonym(s):
    • Dent syndrome
    • Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
    • Renal Fanconi syndrome with nephrocalcinosis and renal stones
    • X-linked recessive hypercalciuric hypophosphatemic rickets
    • X-linked recessive nephrolithiasis
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: N25.8
  • OMIM: 300009  300554  300555  308990  310468
  • UMLS: C0878681
  • MeSH: C545036  D057973
  • GARD: -
  • MedDRA: 10069199

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.