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
Dents Disease
Disease, Dent
Disease, Dent's
Disease, Dents  
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53983 
Unique Identifier:   D057973 

Occurrence in VHL: 		 

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DeCS