Dent Disease [Dentova choroba]

topical
1
Terms

Dentova nemoc

 

Dent's Disease
Dents Disease

Persistent link   https://www.medvik.cz/link/D057973
Definition

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.

DUI
D057973 MeSH Browser
CUI
M0540326
History note
2011
Public note
2011

C Diseases
C12.050.351.968 Urologic Diseases 834
C12.050.351.968.419 Kidney Diseases 3 060
C12.050.351.968.419.815 Renal Tubular Transport, Inborn Errors 36
C12.050.351.968.419.815.093 Acidosis, Renal Tubular 59
C12.050.351.968.419.815.279 Bartter Syndrome 19
C12.050.351.968.419.815.364 Dent Disease 1
C12.050.351.968.419.815.450 Fanconi Syndrome 23
C12.050.351.968.419.815.491 Gitelman Syndrome 17
C12.050.351.968.419.815.532 Glycosuria, Renal 36
C12.050.351.968.419.815.647 Hypophosphatemia, Familial 12
C12.050.351.968.419.815.683 Liddle Syndrome 4
C12.050.351.968.419.815.720 Oculocerebrorenal Syndrome 9
C12.050.351.968.419.815.770 Pseudohypoaldosteronism 9
C12.050.351.968.419.815.885 Renal Aminoacidurias 27
C12.200.777 Urologic Diseases 834
C12.200.777.419 Kidney Diseases 3 060
C12.200.777.419.815.093 Acidosis, Renal Tubular 59
C12.200.777.419.815.279 Bartter Syndrome 19
C12.200.777.419.815.364 Dent Disease 1
C12.200.777.419.815.450 Fanconi Syndrome 23
C12.200.777.419.815.491 Gitelman Syndrome 17
C12.200.777.419.815.532 Glycosuria, Renal 36
C12.200.777.419.815.647 Hypophosphatemia, Familial 12
C12.200.777.419.815.683 Liddle Syndrome 4
C12.200.777.419.815.720 Oculocerebrorenal Syndrome 9
C12.200.777.419.815.770 Pseudohypoaldosteronism 9
C12.200.777.419.815.885 Renal Aminoacidurias 27
C12.950.419 Kidney Diseases 3 060
C12.950.419.815.093 Acidosis, Renal Tubular 59
C12.950.419.815.279 Bartter Syndrome 19
C12.950.419.815.364 Dent Disease 1
C12.950.419.815.450 Fanconi Syndrome 23
C12.950.419.815.491 Gitelman Syndrome 17
C12.950.419.815.532 Glycosuria, Renal 36
C12.950.419.815.647 Hypophosphatemia, Familial 12
C12.950.419.815.683 Liddle Syndrome 4
C12.950.419.815.720 Oculocerebrorenal Syndrome 9
C12.950.419.815.770 Pseudohypoaldosteronism 9
C12.950.419.815.885 Renal Aminoacidurias 27
C16.320.322.030 Aicardi Syndrome
C16.320.322.068 Barth Syndrome 6
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.124 Fabry Disease 187
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.235 Hemophilia B 214
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.562 Muscular Dystrophy, Duchenne 133
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.831.093 Acidosis, Renal Tubular 59
C16.320.831.271 Dent Disease 1
C16.320.831.450 Fanconi Syndrome 23
C16.320.831.491 Gitelman Syndrome 17
C16.320.831.532 Glycosuria, Renal 36
C16.320.831.647 Hypophosphatemia, Familial 12
C16.320.831.698 Liddle Syndrome 4
C16.320.831.770 Pseudohypoaldosteronism 9
C16.320.831.885 Renal Aminoacidurias 27

Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Disease MeSH Browser