Dent Disease 1 (NPHL2)

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OMIM 57 300009 Disease Ontology 12 DOID:0050699 MeSH 44 C538212 C564487 D057973 D053040 more NCIt 50 C123260 Orphanet 59 ORPHA1652 ORPHA93622 MESH via Orphanet 45 C545036 D057973 C538212

UMLS via Orphanet 74 C1839874 C0878681 C0403720 C1848336 more ICD10 via Orphanet 34 N25.8 MedGen 42 C1848336 KEGG 37 H02149 H00694 SNOMED-CT via HPO 69 236403004 25821008 48638002 128306009 193570009 247053007 34436003 53298000 398151007 398152000 86765009 21522001 4996001 71938000 12584003 41345002 4598005 134291007 5468008 197940006 299331007 45154002 22450000 35912001 237836003 709044004 431855005 431856006 more UMLS 73 C0878681 C1845167 C1848336

NIH Rare Diseases : ⁵³ Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria (protein in the urine). Other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney stones. Less common features include rickets and mildy short stature. Progressive kidney problems often lead to kidney failure by early to mid-adulthood. There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are inherited in an X-linked recessive manner.Dent disease type 1 is caused by a mutation in the CLCN5 gene. Dent disease type 2 is caused by a mutation in the OCRL gene. Males with this form are also at increased risk for mild intellectual disability and hypotonia. Treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life.

MalaCards based summary : Dent Disease 1, also known as dent disease, is related to nephrolithiasis and lowe oculocerebrorenal syndrome, and has symptoms including bone pain An important gene associated with Dent Disease 1 is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include kidney, bone and cortex, and related phenotypes are muscular hypotonia and cataract

Disease Ontology : ¹² A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has material basis in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.

Genetics Home Reference : ²⁵ Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.

OMIM : ⁵⁷ The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (310468), X-linked recessive hypophosphatemic rickets (300554), and low molecular weight proteinuria (308990). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport. (300009)

UniProtKB/Swiss-Prot : ⁷⁵ Nephrolithiasis 2: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia.

Wikipedia : ⁷⁶ Dent''s disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the... more...

GeneReviews: NBK99494

Clinical features from OMIM:

300009

Search Clinical Trials , NIH Clinical Center for Dent Disease 1

Search GEO for disease gene expression data for Dent Disease 1.