The CLCN5 gene encodes the chloride channel Cl-/H+ exchanger ClC-5. ClC-5 is mainly expressed in the kidney, in particular in proximal tubules where it...
43 KB (4,939 words) - 02:57, 1 September 2024
low-molecular-weight proteinuria. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter...
12 KB (1,239 words) - 19:53, 23 August 2024
seven of the eight males with inactivated CLCN5 gene that participated in the study. Inactivation of the CLCN5 gene causes Dent's disease Type 1. The rare...
23 KB (2,442 words) - 19:36, 24 July 2024
ATP2A2 1:30,000-100,000 Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRL Denys–Drash syndrome WT1 De Grouchy syndrome 18q D Dolichonychia Down...
42 KB (983 words) - 10:34, 21 August 2024
low molecular weight proteinuria and hypercalciuria where mutations in CLCN5 are implicated. Thomsen disease is associated with dominant mutations and...
21 KB (2,526 words) - 14:32, 22 March 2024
HGNC:2020 P51788 3117 CLCN3 HGNC:2021 P51790 3118 CLCN4 HGNC:2022 P51793 3119 CLCN5 HGNC:2023 P51795 3120 CLCN6 HGNC:2024 P51797 3121 CLCN7 HGNC:2025 P51798...
277 KB (17 words) - 23:17, 27 April 2024
which is attributed to a mutation in CLCN5 or OCRL1 genes. However, IH patients have not been detected to carry the CLCN5 mutation. The objective of treating...
28 KB (3,178 words) - 04:55, 1 September 2024
and colleagues who determined that mutation of the chloride channel gene CLCN5 was the cause of many, though not all, of these disorders including one...
17 KB (2,198 words) - 04:24, 3 January 2024
↑Glycosuria Dent's disease (X-linked recessive hypophophatemic rickets)[300009] CLCN5 Xp11.22 XR Nephrocalcinosis, nephrolithiasis, rachitic and osteomalacic...
7 KB (160 words) - 04:00, 20 June 2024
CHRND CHRNE CHRNG CLCA1 CLCA2 CLCA3 CLCA4 CLCC1 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC1 CLIC2 CLIC3 CLIC4 CLIC5 CLIC6 CLNS1A CLNS1B...
15 KB (1,545 words) - 18:32, 17 August 2024
heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations". Pediatr. Nephrol. 24 (10): 1967–73. doi:10.1007/s00467-009-1228-4...
8 KB (1,047 words) - 23:33, 29 November 2023
can lead to idiopathic generalised epilepsy (OMIM: 600699), mutations in CLCN5 can lead to Dent's disease (OMIM: 300009), mutations in CLCN7 can lead to...
18 KB (1,953 words) - 23:10, 23 August 2023
body; 127750; SNCB Dent's disease 2; 300555; OCRL Dent's disease; 300009; CLCN5 Dentatorubr–pallidoluysian atrophy; 125370; ATN1 Dentin dysplasia, type...
234 KB (18,877 words) - 15:43, 9 May 2024