Dent disease type 1

General Information (adopted from Orphanet):

Synonyms, Signs: Nephrolithiasis type 1
Number of Symptoms 39
OrphanetNr: 93622
OMIM Id: 300009
300554
308990
310468
ICD-10: N25.8
UMLs: C1848336
MeSH: C538212
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
X-linked
25001568 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Dent disease
 -Rare genetic disease
 -Rare renal disease

Comment:

Of the 32 families with the clinical diagnosis of Dent–Wrong disease, 19 had mutations in CLCN5 (Dent disease 1) and 5 had mutations in OCRL1 (Dent disease 2), but the diagnosis of Lowe syndrome had been excluded in the members of the latter families because cataracts were absent. A subset of patients with Dent–Wrong disease do not have any mutations in either of the above genes (PMID:25852908). Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males (PMID:20946626). CLCN5 mutations inactivate a voltage-gated chloride transporter that exists almost exclusively in the kidney proximal tubule cells (PMID:25852908).

Symptom Information: Sort by abundance 

1
 (HPO:0003537) Hypouricemia Frequent [IBIS] 34% (n=38) 25907713 IBIS 13 / 7739
2
 (HPO:0001508) Failure to thrive 25907713 IBIS 454 / 7739
3
 (HPO:0003126) Low-molecular-weight proteinuria Very frequent [IBIS] 99% (n=111) 25907713; 20946626; 25852908 IBIS 7 / 7739
4
 (HPO:0002150) Hypercalciuria Very frequent [IBIS] 88% (n=99) 25907713 IBIS 45 / 7739
5
 (HPO:0000121) Nephrocalcinosis Frequent [IBIS] 61% (n=102) 25907713 IBIS 57 / 7739
6
 (HPO:0003355) Aminoaciduria Frequent [IBIS] 61% (n=39) 25907713 IBIS 65 / 7739
7
 (HPO:0000083) Renal insufficiency Frequent [IBIS] 47% (n=110) 25907713; 27117801; 25852908 IBIS 232 / 7739
8
 (HPO:0002148) Hypophosphatemia Frequent [IBIS] 54% (n=76) 25907713; 25852908 IBIS 43 / 7739
9
 (HPO:0002900) Hypokalemia Frequent [IBIS] 39% (n=86) 25907713; 25852908 IBIS 45 / 7739
10
 (HPO:0000787) Nephrolithiasis Frequent [IBIS] 33% (n=91) 25852908 IBIS 78 / 7739
11
 (HPO:0002748) Rickets Occasional [IBIS] 15% (n=93) 25852908 IBIS 41 / 7739
12
 (HPO:0001942) Metabolic acidosis Occasional [IBIS] 13% (n=68) 25907713 IBIS 81 / 7739
13
 (HPO:0003076) Glycosuria Frequent [IBIS] 40% (n=70) 25907713 IBIS 32 / 7739
14
 (HPO:0001994) Renal Fanconi syndrome 25852908 IBIS 12 / 7739
15
 (HPO:0002027) Abdominal pain 20946626 IBIS 184 / 7739
16
 (HPO:0000662) Nyctalopia 20946626 IBIS 92 / 7739
17
 (HPO:0001947) Renal tubular acidosis 25852908 IBIS 21 / 7739
18
 (HPO:0000824) Growth hormone deficiency 25907713 IBIS 56 / 7739
19
 (HPO:0001959) Polydipsia 25907713 IBIS 43 / 7739
20
 (HPO:0000103) Polyuria 25907713 IBIS 60 / 7739
21
 (HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 7703383 IBIS 7 / 7739
22
 (HPO:0002979) Bowing of the legs 7922301 IBIS 28 / 7739
23
 (HPO:0002857) Genu valgum 7922301 IBIS 144 / 7739
24
 (HPO:0003028) Abnormality of the ankles 7922301 IBIS 14 / 7739
25
 (HPO:0003019) Abnormality of the wrist 7922301 IBIS 52 / 7739
26
 (HPO:0004349) Reduced bone mineral density 7922301 IBIS 165 / 7739
27
 (HPO:0002749) Osteomalacia 25852908 IBIS 24 / 7739
28
 (HPO:0002653) Bone pain 7922301 IBIS 75 / 7739
29
 (HPO:0002757) Recurrent fractures 7922301 IBIS 47 / 7739
30
 (HPO:0000096) Glomerulosclerosis 25852908 IBIS 11 / 7739
31
 (HPO:0000114) Proximal tubulopathy 25907713 IBIS 18 / 7739
32
 (HPO:0000092) Tubular atrophy 25852908 IBIS 28 / 7739
33
 (HPO:0005576) Tubulointerstitial fibrosis 25907713 IBIS 32 / 7739
34
 (HPO:0012213) Decreased glomerular filtration rate 27342959 IBIS 21 / 7739
35
 (HPO:0002907) Microscopic hematuria 25907713; 25852908 IBIS 27 / 7739
36
 (HPO:0012622) Chronic kidney disease 25852908 IBIS 32 / 7739
37
 (HPO:0003109) Hyperphosphaturia 25852908 IBIS 18 / 7739
38
 (HPO:0004905) Vitamin A deficiency 22350370 IBIS 3 / 7739
39
 (HPO:0001510) Growth delay 25852908 IBIS 295 / 7739

Associated genes:

CLCN5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: