Details of Disease

General Information of Disease (ID: DISRDLFN)

• Disease Name: Dent disease
• Synonyms: Dents disease; Dent disease 2; Dent disease 1; low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis; X-linked recessive hypophosphatemic rickets; X-linked recessive hypercalciuric hypophosphatemic rickets; renal Fanconi syndrome with nephrocalcinosis and renal stones; Dent's disease; X-linked recessive nephrolithiasis; Dent syndrome
• Definition: Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DISBGF8S: Renal tubular transport disease
  DISRDLFN: Dent disease
• Disease Identifiers:
  MONDO ID: MONDO_0015612
  UMLS CUI: C0878681
  MedGen ID: 168056
  Orphanet ID: 1652
  SNOMED CT ID: 444645005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP2	TTPH1AJ	Limited	Genetic Variation	[1]
CUBN	TT9YLCR	Strong	Biomarker	[2]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLDN16	OTTHAIKR	moderate	Biomarker	[3]
CLTRN	OTXGFJ3F	moderate	Biomarker	[4]
EXT2	OT8IR5QN	moderate	Genetic Variation	[5]
CLC	OTYMYR85	Strong	Genetic Variation	[6]
CLCN4	OT4A2UWF	Strong	Genetic Variation	[7]
OCRL	OTQ3L42N	Strong	Genetic Variation	[8]
PHETA1	OT4IMC0X	Strong	Biomarker	[9]
SCN7A	OTK05PXY	Strong	Biomarker	[10]
SHROOM4	OT33GO6E	Definitive	Genetic Variation	[11]

References

• [1] Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.Clin Genet. 2018 Jul;94(1):187-188. doi: 10.1111/cge.13242. Epub 2018 Mar 13.
• [2] Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):7014-9. doi: 10.1073/pnas.1302063110. Epub 2013 Apr 9.
• [3] Inherited hypercalciuric syndromes: Dent's disease (CLC-5) and familial hypomagnesemia with hypercalciuria (paracellin-1).Semin Nephrol. 2004 Jan;24(1):55-60. doi: 10.1053/j.semnephrol.2003.08.011.
• [4] Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.Pediatr Nephrol. 2009 Oct;24(10):1967-73. doi: 10.1007/s00467-009-1228-4. Epub 2009 Jul 7.
• [5] Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.Hum Genet. 2015 Jun;134(6):589-603. doi: 10.1007/s00439-015-1539-4. Epub 2015 Mar 20.
• [6] Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.Annu Rev Physiol. 2005;67:779-807. doi: 10.1146/annurev.physiol.67.032003.153245.
• [7] Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.Nephron Physiol. 2009;112(4):p53-62. doi: 10.1159/000225944. Epub 2009 Jun 20.
• [8] Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.DNA Cell Biol. 2017 Dec;36(12):1151-1158. doi: 10.1089/dna.2017.3731. Epub 2017 Oct 23.
• [9] The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.Mol Biol Cell. 2011 Mar 1;22(5):606-23. doi: 10.1091/mbc.E10-08-0730. Epub 2011 Jan 13.
• [10] Lysosomal enzymuria is a feature of hereditary Fanconi syndrome and is related to elevated CI-mannose-6-P-receptor excretion.Nephrol Dial Transplant. 2008 Sep;23(9):2795-803. doi: 10.1093/ndt/gfm898. Epub 2008 Jan 3.
• [11] Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.BMC Med Genomics. 2019 Jan 10;12(1):6. doi: 10.1186/s12920-018-0471-6.