Search on: DENT DISEASE 
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Descriptor English:   Dent Disease 
Descriptor Spanish:   Enfermedad de Dent 
Descriptor Portuguese:   Doença de Dent 
Synonyms English:   Dent's Disease  
Tree Number:   C12.777.419.815.364
C13.351.968.419.815.364
C16.320.322.100
C16.320.565.861.271
C18.452.648.861.271
Definition English:   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. 
See Related English:   Bartter Syndrome
Fanconi Syndrome
Gitelman Syndrome
Oculocerebrorenal Syndrome
 
History Note English:   2011 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   53983 
Unique Identifier:   D057973 

Occurrence in VHL: 		 

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