| Descriptor English: | Dent Disease | ||||
| Descriptor Spanish: |
Enfermedad de Dent
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| Descriptor Portuguese: | Doença de Dent | ||||
| Descriptor French: | Maladie de Dent | ||||
| Entry term(s): |
Dent's Disease Dents Disease Disease, Dent Disease, Dent's Disease, Dents |
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| Tree number(s): |
C12.050.351.968.419.815.364 C12.200.777.419.815.364 C12.950.419.815.364 C16.320.322.100 C16.320.831.271 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D057973 | ||||
| Scope note: | X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2011 |
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| History Note: | 2011 |
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| Related: |
Bartter Syndrome
MeSH Fanconi Syndrome MeSH Gitelman Syndrome MeSH Oculocerebrorenal Syndrome MeSH | ||||
| DeCS ID: | 53983 | ||||
| Unique ID: | D057973 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2011/01/01 | ||||
| Date of Entry: | 2010/06/25 | ||||
| Revision Date: | 2013/07/08 |
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Dent Disease
- Preferred
| Concept UI |
M0540326 |
| Scope note | X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. |
| Preferred term | Dent Disease |
| Entry term(s) |
Dent's Disease Dents Disease Disease, Dent Disease, Dent's Disease, Dents |
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