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MCID: DNT020
MIFTS: 59

Dent Disease 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dent Disease 1

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MalaCards integrated aliases for Dent Disease 1:

Name: Dent Disease 1 57 12 75 29 6 44 73
Dent Disease 57 12 76 24 53 25 59 37 13 55 6 44 15
Dent's Disease 12 76 53 25 29 73
Dent Disease 2 12 44 73
Low-Molecular-Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 53 59
Renal Fanconi Syndrome with Nephrocalcinosis and Renal Stones 53 59
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets 53 59
X-Linked Recessive Nephrolithiasis 53 59
Nephrolithiasis 2 57 75
Dent Syndrome 53 59
Dents Disease 53 25
Nphl2 57 75
Nephrolithiasis-Hypercalciuria X-Linked Recessive 75
Nephrolithiasis, Hypercalciuric, X-Linked 57
Urolithiasis, Hypercalciuric, X-Linked 57
Nephrolithiasis, X-Linked Recessive 6
Nephrolithiasis 2; Nphl2 57
Nephrolithiasis Type 1 59
Dent Disease, Type 1 40
Dent Disease Type 1 59

Characteristics:

Orphanet epidemiological data:

59
dent disease
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult;
dent disease type 1
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable phenotypic severity
female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
part of 'dent disease complex'
see also x-linked nephrocalcinosis , x-linked recessive hypophosphatemic rickets , and low-molecular-weight proteinuria with nephrocalcinosis
see also dent disease 2


HPO:

32
dent disease 1:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 300009
Disease Ontology 12 DOID:0050699
NCIt 50 C123260
SNOMED-CT 68 444645005
MESH via Orphanet 45 C545036 D057973 C538212
UMLS via Orphanet 74 C1839874 C0878681 C0403720 more
ICD10 via Orphanet 34 N25.8
MedGen 42 C1848336
KEGG 37 H00694
Sources

Summaries for Dent Disease 1

About this section
NIH Rare Diseases : 53 Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria (protein in the urine). Other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney stones. Less common features include rickets and mildy short stature. Progressive kidney problems often lead to kidney failure by early to mid-adulthood. There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are inherited in an X-linked recessive manner.Dent disease type 1 is caused by a mutation in the CLCN5 gene. Dent disease type 2 is caused by a mutation in the OCRL gene. Males with this form are also at increased risk for mild intellectual disability and hypotonia. Treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life.

MalaCards based summary : Dent Disease 1, also known as dent disease, is related to lowe oculocerebrorenal syndrome and dent disease 2, and has symptoms including bone pain An important gene associated with Dent Disease 1 is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Hydrochlorothiazide and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are muscular hypotonia and cataract

OMIM : 57 The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (310468), X-linked recessive hypophosphatemic rickets (300554), and low molecular weight proteinuria (308990). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport. (300009)

UniProtKB/Swiss-Prot : 75 Nephrolithiasis 2: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia.

Genetics Home Reference : 25 Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.

Disease Ontology : 12 A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has material basis in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.

Wikipedia : 76 Dent\'s disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the... more...

GeneReviews: NBK99494
Sources

Related Diseases for Dent Disease 1

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Diseases in the Dent Disease 1 family:

Dent Disease 2

Diseases related to Dent Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 lowe oculocerebrorenal syndrome 29.1 CLCN5 INPP5B LRP2 OCRL
2 dent disease 2 12.5
3 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.2
4 nephrolithiasis, x-linked recessive, with renal failure 12.1
5 aminoaciduria 10.4 CLCN5 OCRL
6 fanconi-like syndrome 10.3 CUBN LRP2
7 nephrolithiasis 10.3
8 hypercalciuria, absorptive, 2 10.2 CLCN5 KCNJ1
9 infantile bartter syndrome with sensorineural deafness 10.2 CLCNKA CLCNKB
10 bartter syndrome, type 4b, neonatal, with sensorineural deafness 10.2 CLCNKA CLCNKB
11 deafness, autosomal recessive 96 10.1 CLCNKA CLCNKB
12 autosomal recessive nonsyndromic deafness 36 10.1 CLCNKA CLCNKB
13 cystinosis 10.1 CUBN LRP2
14 bartter syndrome, type 3 10.0 CLCNKB KCNJ1
15 polyhydramnios 10.0 CLCNKB KCNJ1
16 gitelman syndrome 9.9 CLCNKB KCNJ1
17 mineral metabolism disease 9.8 CLCN5 CLCNKB KCNJ1
18 hidradenitis suppurativa 9.8
19 hidradenitis 9.8
20 nephrocalcinosis 9.8 CLCN5 CLCNKB KCNJ1
21 fanconi syndrome 9.7 CLCN5 CUBN LRP2 OCRL
22 x-linked disease 9.7 INPP5B OCRL
23 hypokalemia 9.5 CLCNKB KCNJ1
24 bartter disease 9.2 CLCN5 CLCNKA CLCNKB KCNJ1
25 renal tubular transport disease 8.9 CLCN5 CLCNKA CLCNKB KCNJ1 OCRL

Graphical network of the top 20 diseases related to Dent Disease 1:



Diseases related to Dent Disease 1
Sources

Symptoms & Phenotypes for Dent Disease 1

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Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
proximal renal tubule defect
decreased renal tubular phosphate reabsorption
renal insufficiency, progressive
more
Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Laboratory Abnormalities:
hypophosphatemia
aminoaciduria
hypercalciuria
glycosuria
microscopic hematuria
more
Skeletal:
osteomalacia
bone pain
thin bony cortex
sparse bone trabeculae
increased fractures
more
Growth Other:
poor growth


Clinical features from OMIM:

300009

Human phenotypes related to Dent Disease 1:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
2 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
3 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
4 rickets 59 32 occasional (7.5%) Occasional (29-5%) HP:0002748
5 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
6 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
7 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
8 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
9 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
10 nephrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000121
11 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
12 osteomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002749
13 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
14 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
15 mild global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0011342
16 proximal tubulopathy 59 32 Very frequent (99-80%) HP:0000114
17 glycosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003076
18 bowing of the legs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002979
19 chronic kidney disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0012622
20 delayed epiphyseal ossification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002663
21 thin bony cortex 59 32 occasional (7.5%) Occasional (29-5%) HP:0002753
22 tubular atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000092
23 focal segmental glomerulosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000097
24 renal phosphate wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000117
25 sparse bone trabeculae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002752
26 bulging epiphyses 59 32 occasional (7.5%) Occasional (29-5%) HP:0003013
27 enlargement of the wrists 59 32 occasional (7.5%) Occasional (29-5%) HP:0003020
28 metaphyseal irregularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003025
29 enlargement of the ankles 59 32 occasional (7.5%) Occasional (29-5%) HP:0003029
30 hyperphosphaturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003109
31 low-molecular-weight proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003126
32 hyperuricosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003149
33 increased serum 1,25-dihydroxyvitamin d3 59 32 hallmark (90%) Very frequent (99-80%) HP:0003152
34 tubulointerstitial fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005576
35 non-acidotic proximal tubulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0005574
36 renal hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008732
37 short stature 32 HP:0004322
38 renal insufficiency 59 Very frequent (99-80%)
39 proteinuria 59 Very frequent (99-80%)
40 hypophosphatemia 32 HP:0002148
41 abnormality of the lower limb 59 Occasional (29-5%)
42 femoral bowing 32 HP:0002980
43 tibial bowing 32 HP:0002982
44 microscopic hematuria 32 HP:0002907
45 fibular bowing 32 HP:0010502
46 enlarged epiphyses 59 Occasional (29-5%)

UMLS symptoms related to Dent Disease 1:


bone pain

MGI Mouse Phenotypes related to Dent Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 CLCN5 CLCN7 CUBN INPP5B KCNJ1 LRP2
2 homeostasis/metabolism MP:0005376 9.61 CLCN4 CLCN5 CLCN7 CLCNKB CUBN INPP5B
3 renal/urinary system MP:0005367 9.28 CLCN4 CLCN5 CLCN7 CLCNKB CUBN INPP5B
Sources

Drugs & Therapeutics for Dent Disease 1

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Drugs for Dent Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
2 Antihypertensive Agents Phase 2, Phase 3
3 diuretics Phase 2, Phase 3
4 Natriuretic Agents Phase 2, Phase 3
5 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
6 Calcium, Dietary Phase 1, Phase 2
7 potassium phosphate Phase 1, Phase 2
8 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
9 Noni Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
2 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
3 Review of Kidney Biopsies of Dent Disease Patients Completed NCT02022189
4 Dent Disease Mutation Genotyping Recruiting NCT01783795 Not Applicable
5 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
6 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
7 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
8 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
9 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835

Search NIH Clinical Center for Dent Disease 1

Cochrane evidence based reviews: dent disease

Sources

Genetic Tests for Dent Disease 1

About this section

Genetic tests related to Dent Disease 1:

# Genetic test Affiliating Genes
1 Dent Disease 1 29 CLCN5
2 Dent's Disease 29
Sources

Anatomical Context for Dent Disease 1

About this section

MalaCards organs/tissues related to Dent Disease 1:

41
Kidney, Bone, Testes, Cortex, Bone Marrow
Sources

Publications for Dent Disease 1

About this section

Articles related to Dent Disease 1:

(show all 48)
# Title Authors Year
1
Patients affected by Dent disease 2 could be predisposed to hidradenitis suppurativa. ( 29430722 )
2018
2
Nanotubes, the fast track to treatment of Dent disease? ( 28314577 )
2017
3
Diagnosis and treatment of Dent disease in 10 Chinese boys. ( 28357180 )
2017
4
Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease. ( 28143656 )
2017
5
Phenotypic variability of Dent disease in a large New Zealand kindred. ( 27699523 )
2017
6
Dent disease in Poland: what we have learned so far? ( 28815356 )
2017
7
Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China. ( 28580211 )
2017
8
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. ( 28669993 )
2017
9
Observations of a large Dent disease cohort. ( 27342959 )
2016
10
Glomerular Pathology in Dent Disease and Its Association with Kidney Function. ( 27697782 )
2016
11
Phenotype of Dent Disease in a Cohort of Indian Children. ( 27889724 )
2016
12
Proteinuria in Dent disease: a review of the literature. ( 27757584 )
2016
13
Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients. ( 27117801 )
2016
14
Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis? ( 27324082 )
2016
15
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations. ( 27174143 )
2016
16
Dent disease in children: diagnostic and therapeutic considerations. ( 26308078 )
2015
17
Mutation Update of the Clcn5 Gene Responsible for Dent Disease 1. ( 25907713 )
2015
18
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease. ( 25670966 )
2015
19
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations. ( 26389017 )
2015
20
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). ( 24619144 )
2014
21
A case of adult Dent disease in Japan with advanced chronic kidney disease. ( 28509186 )
2014
22
Muscle involvement in Dent disease 2. ( 24912603 )
2014
23
Expanding the phenotype of proteinuria in Dent disease. A case series. ( 24810952 )
2014
24
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. ( 24081861 )
2013
25
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. ( 23572577 )
2013
26
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. ( 21932010 )
2012
27
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. ( 22378746 )
2012
28
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. ( 21031565 )
2011
29
Heterogeneity in the processing of CLCN5 mutants related to Dent disease. ( 21305656 )
2011
30
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts. ( 21822997 )
2011
31
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011
32
Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. ( 19673950 )
2009
33
Hydrochlorothiazide-induced tubulointerstitial nephritis in a patient with Dent disease. ( 25984010 )
2009
34
Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial. ( 18976849 )
2008
35
Dent disease presenting as partial Fanconi syndrome and hypercalciuria. ( 18235437 )
2008
36
Renal manifestations of Dent disease and Lowe syndrome. ( 18038239 )
2008
37
Growth hormone improves growth rate and preserves renal function in Dent disease. ( 18540256 )
2008
38
OCRL1 mutations in patients with Dent disease phenotype in Japan. ( 17384968 )
2007
39
Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis. ( 17702731 )
2007
40
Novel OCRL1 mutations in patients with the phenotype of Dent disease. ( 17162149 )
2006
41
Dent disease with mutations in OCRL1. ( 15627218 )
2005
42
Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene. ( 15264294 )
2004
43
Megalin and proximal renal tubular dysfunction in Dent disease. ( 15338396 )
2004
44
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. ( 15365802 )
2004
45
Examination of megalin in renal tubular epithelium from patients with Dent disease. ( 15052463 )
2004
46
Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. ( 10373326 )
1999
47
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). ( 8575751 )
1995
48
Dent Disease ( 22876375 )
1993
Sources

Variations for Dent Disease 1

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UniProtKB/Swiss-Prot genetic disease variations for Dent Disease 1:

75 (show all 28)
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Gly57Val VAR_001616 rs151340629
2 CLCN5 p.Leu200Arg VAR_001617 rs151340622
3 CLCN5 p.Gly512Arg VAR_001621
4 CLCN5 p.Ser520Pro VAR_001622 rs151340623
5 CLCN5 p.Glu527Asp VAR_001623
6 CLCN5 p.Gly179Asp VAR_065591
7 CLCN5 p.Ser203Leu VAR_065592
8 CLCN5 p.Gly212Ala VAR_065593
9 CLCN5 p.Cys219Arg VAR_065594
10 CLCN5 p.Cys221Arg VAR_065595
11 CLCN5 p.Leu225Pro VAR_065596 rs273585645
12 CLCN5 p.Gly260Val VAR_065597 rs151340630
13 CLCN5 p.Glu267Ala VAR_065598
14 CLCN5 p.Ser270Gly VAR_065600
15 CLCN5 p.Ser270Arg VAR_065601
16 CLCN5 p.Tyr272Cys VAR_065602 rs273585644
17 CLCN5 p.Phe273Leu VAR_065603
18 CLCN5 p.Leu278Phe VAR_065604 rs273585648
19 CLCN5 p.Asn340Lys VAR_065605 rs273585646
20 CLCN5 p.Gly462Asp VAR_065606
21 CLCN5 p.Leu469Pro VAR_065607
22 CLCN5 p.Gly513Glu VAR_065608
23 CLCN5 p.Gly513Arg VAR_065609 rs273585647
24 CLCN5 p.Arg516Trp VAR_065610 rs797044812
25 CLCN5 p.Ser545Asn VAR_065612
26 CLCN5 p.Lys546Glu VAR_065613
27 CLCN5 p.Trp547Gly VAR_065614 rs273585650
28 CLCN5 p.Thr657Ser VAR_065615 rs144207967

ClinVar genetic disease variations for Dent Disease 1:

6
(show top 50) (show all 200)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN5 NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs151340620 GRCh37 Chromosome X, 49851017: 49851017
2 CLCN5 NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs151340620 GRCh38 Chromosome X, 50086360: 50086360
3 CLCN5 NM_000084.4(CLCN5): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs151340621 GRCh37 Chromosome X, 49855335: 49855335
4 CLCN5 NM_000084.4(CLCN5): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs151340621 GRCh38 Chromosome X, 50090678: 50090678
5 CLCN5 NM_001127899.3(CLCN5): c.809T> G (p.Leu270Arg) single nucleotide variant Pathogenic rs151340622 GRCh37 Chromosome X, 49846380: 49846380
6 CLCN5 NM_001127899.3(CLCN5): c.809T> G (p.Leu270Arg) single nucleotide variant Pathogenic rs151340622 GRCh38 Chromosome X, 50081723: 50081723
7 CLCN5 NM_001127899.3(CLCN5): c.1768T> C (p.Ser590Pro) single nucleotide variant Pathogenic rs151340623 GRCh37 Chromosome X, 49854796: 49854796
8 CLCN5 NM_001127899.3(CLCN5): c.1768T> C (p.Ser590Pro) single nucleotide variant Pathogenic rs151340623 GRCh38 Chromosome X, 50090139: 50090139
9 CLCN5 NM_001127899.3(CLCN5): c.2320C> T (p.Arg774Ter) single nucleotide variant Pathogenic rs151340624 GRCh37 Chromosome X, 49855503: 49855503
10 CLCN5 NM_001127899.3(CLCN5): c.2320C> T (p.Arg774Ter) single nucleotide variant Pathogenic rs151340624 GRCh38 Chromosome X, 50090846: 50090846
11 CLCN5 NM_001127899.3(CLCN5): c.1727G> A (p.Gly576Glu) single nucleotide variant Pathogenic rs151340625 GRCh37 Chromosome X, 49853524: 49853524
12 CLCN5 NM_001127899.3(CLCN5): c.1727G> A (p.Gly576Glu) single nucleotide variant Pathogenic rs151340625 GRCh38 Chromosome X, 50088867: 50088867
13 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Likely pathogenic rs151340626 GRCh37 Chromosome X, 49850644: 49850644
14 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Likely pathogenic rs151340626 GRCh38 Chromosome X, 50085987: 50085987
15 CLCN5 NM_001127899.3(CLCN5): c.380G> T (p.Gly127Val) single nucleotide variant Pathogenic rs151340629 GRCh37 Chromosome X, 49837208: 49837208
16 CLCN5 NM_001127899.3(CLCN5): c.380G> T (p.Gly127Val) single nucleotide variant Pathogenic rs151340629 GRCh38 Chromosome X, 50072553: 50072553
17 CLCN5 CLCN5, ALU INS, EX11 insertion Pathogenic
18 CLCN5 NM_000084.4(CLCN5): c.779G> T (p.Gly260Val) single nucleotide variant Pathogenic rs151340630 GRCh37 Chromosome X, 49850692: 49850692
19 CLCN5 NM_000084.4(CLCN5): c.779G> T (p.Gly260Val) single nucleotide variant Pathogenic rs151340630 GRCh38 Chromosome X, 50086035: 50086035
20 CLCN5 CLCN5, IVS8DS, G-T, +1 single nucleotide variant Pathogenic
21 CLCN5 NM_000084.4(CLCN5): c.1020C> A (p.Asn340Lys) single nucleotide variant Pathogenic rs273585646 GRCh37 Chromosome X, 49851200: 49851200
22 CLCN5 NM_000084.4(CLCN5): c.1020C> A (p.Asn340Lys) single nucleotide variant Pathogenic rs273585646 GRCh38 Chromosome X, 50086543: 50086543
23 CLCN5 NM_000084.4(CLCN5): c.1537G> A (p.Gly513Arg) single nucleotide variant Pathogenic rs273585647 GRCh37 Chromosome X, 49854775: 49854775
24 CLCN5 NM_000084.4(CLCN5): c.1537G> A (p.Gly513Arg) single nucleotide variant Pathogenic rs273585647 GRCh38 Chromosome X, 50090118: 50090118
25 CLCN5 NM_000084.4(CLCN5): c.1637A> G (p.Lys546Arg) single nucleotide variant Pathogenic rs273585649 GRCh37 Chromosome X, 49854875: 49854875
26 CLCN5 NM_000084.4(CLCN5): c.1637A> G (p.Lys546Arg) single nucleotide variant Pathogenic rs273585649 GRCh38 Chromosome X, 50090218: 50090218
27 CLCN5 NM_000084.4(CLCN5): c.1639T> G (p.Trp547Gly) single nucleotide variant Pathogenic rs273585650 GRCh37 Chromosome X, 49854877: 49854877
28 CLCN5 NM_000084.4(CLCN5): c.1639T> G (p.Trp547Gly) single nucleotide variant Pathogenic rs273585650 GRCh38 Chromosome X, 50090220: 50090220
29 CLCN5 NM_000084.4(CLCN5): c.674T> C (p.Leu225Pro) single nucleotide variant Pathogenic rs273585645 GRCh37 Chromosome X, 49846455: 49846455
30 CLCN5 NM_000084.4(CLCN5): c.674T> C (p.Leu225Pro) single nucleotide variant Pathogenic rs273585645 GRCh38 Chromosome X, 50081798: 50081798
31 CLCN5 NM_000084.4(CLCN5): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs273585644 GRCh37 Chromosome X, 49850995: 49850995
32 CLCN5 NM_000084.4(CLCN5): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs273585644 GRCh38 Chromosome X, 50086338: 50086338
33 CLCN5 NM_000084.4(CLCN5): c.834G> C (p.Leu278Phe) single nucleotide variant Pathogenic rs273585648 GRCh37 Chromosome X, 49851014: 49851014
34 CLCN5 NM_000084.4(CLCN5): c.834G> C (p.Leu278Phe) single nucleotide variant Pathogenic rs273585648 GRCh38 Chromosome X, 50086357: 50086357
35 CLCN5 NG_007159.3: g.(?_162979)_(164232_?)del deletion Pathogenic GRCh37 Chromosome X, 49845251: 49846504
36 CLCN5 NG_007159.3: g.(?_162979)_(164232_?)del deletion Pathogenic GRCh38 Chromosome X, 50080594: 50081847
37 CLCN5 NM_000084.4(CLCN5): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs797044808 GRCh38 Chromosome X, 50070025: 50070025
38 CLCN5 NM_000084.4(CLCN5): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs797044808 GRCh37 Chromosome X, 49834680: 49834680
39 CLCN5 NM_000084.4(CLCN5): c.836G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs797044809 GRCh38 Chromosome X, 50086359: 50086359
40 CLCN5 NM_000084.4(CLCN5): c.836G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs797044809 GRCh37 Chromosome X, 49851016: 49851016
41 CLCN5 NM_000084.4(CLCN5): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs797044810 GRCh37 Chromosome X, 49851219: 49851219
42 CLCN5 NM_000084.4(CLCN5): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs797044810 GRCh38 Chromosome X, 50086562: 50086562
43 CLCN5 NM_000084.4(CLCN5): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044811 GRCh38 Chromosome X, 50088749: 50088749
44 CLCN5 NM_000084.4(CLCN5): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044811 GRCh37 Chromosome X, 49853406: 49853406
45 CLCN5 NM_000084.4(CLCN5): c.1546C> T (p.Arg516Trp) single nucleotide variant Likely pathogenic rs797044812 GRCh38 Chromosome X, 50090127: 50090127
46 CLCN5 NM_000084.4(CLCN5): c.1546C> T (p.Arg516Trp) single nucleotide variant Likely pathogenic rs797044812 GRCh37 Chromosome X, 49854784: 49854784
47 CLCN5 NM_000084.4(CLCN5): c.1909C> T (p.Arg637Ter) single nucleotide variant Pathogenic rs797044813 GRCh38 Chromosome X, 50090490: 50090490
48 CLCN5 NM_000084.4(CLCN5): c.1909C> T (p.Arg637Ter) single nucleotide variant Pathogenic rs797044813 GRCh37 Chromosome X, 49855147: 49855147
49 CLCN5 NM_000084.4(CLCN5): c.2152C> T (p.Arg718Ter) single nucleotide variant Pathogenic rs797044814 GRCh37 Chromosome X, 49856787: 49856787
50 CLCN5 NM_000084.4(CLCN5): c.2152C> T (p.Arg718Ter) single nucleotide variant Pathogenic rs797044814 GRCh38 Chromosome X, 50092130: 50092130
Sources

Expression for Dent Disease 1

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Search GEO for disease gene expression data for Dent Disease 1.
Sources

Pathways for Dent Disease 1

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Pathways related to Dent Disease 1 according to KEGG:

37
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070

Pathways related to Dent Disease 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Activation of cAMP-Dependent PKA 64
Show member pathways
 12.97 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
2
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 66
Show member pathways
 12.78 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
3
Ion channel transport 66
Show member pathways
 11.85 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
4
Hepatic ABC Transporters 64
Show member pathways
 11.11 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
5
Diuretics Pathway, Pharmacodynamics 61
10.79 CLCNKA CLCNKB KCNJ1
Sources

GO Terms for Dent Disease 1

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Cellular components related to Dent Disease 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 CLCN5 CUBN INPP5B LRP2 OCRL
2 lysosome GO:0005764 9.72 CLCN7 CUBN LRP2
3 endosome membrane GO:0010008 9.63 CLCN4 CLCN5 CUBN
4 phagocytic vesicle membrane GO:0030670 9.56 INPP5B OCRL
5 brush border GO:0005903 9.54 CUBN LRP2
6 early endosome membrane GO:0031901 9.54 CLCN4 INPP5B OCRL
7 endocytic vesicle GO:0030139 9.52 CUBN LRP2
8 brush border membrane GO:0031526 9.51 CUBN LRP2
9 chloride channel complex GO:0034707 9.48 CLCNKA CLCNKB
10 lysosomal membrane GO:0005765 9.46 CLCN5 CLCN7 CUBN LRP2
11 apical part of cell GO:0045177 9.43 CLCN5 CUBN LRP2
12 clathrin-coated pit GO:0005905 9.13 CUBN LRP2 OCRL
13 endosome GO:0005768 9.1 CLCN4 CLCN5 CUBN INPP5B LRP2 OCRL
14 integral component of membrane GO:0016021 10.1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB INPP5B
15 plasma membrane GO:0005886 10.03 CLCN5 CLCNKA CLCNKB CUBN INPP5B KCNJ1
16 membrane GO:0016020 10.02 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB CUBN

Biological processes related to Dent Disease 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB KCNJ1
2 transmembrane transport GO:0055085 9.77 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
3 regulation of ion transmembrane transport GO:0034765 9.63 CLCNKA CLCNKB KCNJ1
4 ion transmembrane transport GO:0034220 9.63 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB KCNJ1
5 excretion GO:0007588 9.56 CLCN5 CLCNKA CLCNKB KCNJ1
6 inositol phosphate metabolic process GO:0043647 9.49 INPP5B OCRL
7 phosphatidylinositol dephosphorylation GO:0046856 9.48 INPP5B OCRL
8 lipoprotein transport GO:0042953 9.43 CUBN LRP2
9 vitamin D metabolic process GO:0042359 9.4 CUBN LRP2
10 chloride transmembrane transport GO:1902476 9.35 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
11 chloride transport GO:0006821 9.02 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB

Molecular functions related to Dent Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.43 CLCN4 CLCN5 CLCN7
2 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity GO:0052659 9.4 INPP5B OCRL
3 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.37 INPP5B OCRL
4 chloride channel activity GO:0005254 9.35 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
5 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.32 INPP5B OCRL
6 inositol phosphate phosphatase activity GO:0052745 9.16 INPP5B OCRL
7 voltage-gated chloride channel activity GO:0005247 9.02 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
Sources

Sources for Dent Disease 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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