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Pediatric Disease Annotations & Medicines



   dent disease
  

Disease ID 605
Disease dent disease
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.
Synonym
dent disease [disease/finding]
dent's disease
dent's disease (disorder)
dents disease
disease, dent
disease, dent's
disease, dents
Orphanet
DOID
UMLS
C0878681
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:6)
C0020538  |  hypertension  |  1
C0021359  |  infertility  |  1
C0010346  |  crohn's disease  |  1
C0948265  |  metabolic syndrome  |  1
C0027709  |  nephrocalcinosis  |  1
C0014175  |  endometriosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
CLCN5  |  1184  |  CTD_human;GHR
OCRL  |  4952  |  GHR
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1184  |  CLCN5  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:87)
1080  |  CFTR  |  DISEASES
11136  |  SLC7A9  |  DISEASES
28962  |  OSTM1  |  DISEASES
9812  |  KIAA0141  |  DISEASES
479  |  ATP12A  |  DISEASES
23064  |  SETX  |  DISEASES
1894  |  ECT2  |  DISEASES
6555  |  SLC10A2  |  DISEASES
50617  |  ATP6V0A4  |  DISEASES
6519  |  SLC3A1  |  DISEASES
3093  |  UBE2K  |  DISEASES
1182  |  CLCN3  |  DISEASES
6505  |  SLC1A1  |  DISEASES
495  |  ATP4A  |  DISEASES
4036  |  LRP2  |  DISEASES
11181  |  TREH  |  DISEASES
27338  |  UBE2S  |  DISEASES
10686  |  CLDN16  |  DISEASES
10723  |  SLC12A7  |  DISEASES
6550  |  SLC9A3  |  DISEASES
7879  |  RAB7A  |  DISEASES
5243  |  ABCB1  |  DISEASES
5868  |  RAB5A  |  DISEASES
5741  |  PTH  |  DISEASES
1834  |  DSPP  |  DISEASES
23250  |  ATP11A  |  DISEASES
761  |  CA3  |  DISEASES
26060  |  APPL1  |  DISEASES
57477  |  SHROOM4  |  DISEASES
486  |  FXYD2  |  DISEASES
213  |  ALB  |  DISEASES
81693  |  AMN  |  DISEASES
189  |  AGXT  |  DISEASES
285335  |  SLC9C1  |  DISEASES
1072  |  CFL1  |  DISEASES
392  |  ARHGAP1  |  DISEASES
7030  |  TFE3  |  DISEASES
6844  |  VAMP2  |  DISEASES
6569  |  SLC34A1  |  DISEASES
10250  |  SRRM1  |  DISEASES
84679  |  SLC9A7  |  DISEASES
212  |  ALAS2  |  DISEASES
1187  |  CLCNKA  |  DISEASES
1180  |  CLCN1  |  DISEASES
875  |  CBS  |  DISEASES
6338  |  SCNN1B  |  DISEASES
11060  |  WWP2  |  DISEASES
5284  |  PIGR  |  DISEASES
337  |  APOA4  |  DISEASES
55503  |  TRPV6  |  DISEASES
140803  |  TRPM6  |  DISEASES
144717  |  FAM109A  |  DISEASES
133308  |  SLC9B2  |  DISEASES
10724  |  MGEA5  |  DISEASES
4514  |  MT-CO3  |  DISEASES
142680  |  SLC34A3  |  DISEASES
5867  |  RAB4A  |  DISEASES
55811  |  ADCY10  |  DISEASES
10479  |  SLC9A6  |  DISEASES
4952  |  OCRL  |  DISEASES
7809  |  BSND  |  DISEASES
56623  |  INPP5E  |  DISEASES
3633  |  INPP5B  |  DISEASES
54466  |  SPIN2A  |  DISEASES
8242  |  KDM5C  |  DISEASES
22919  |  MAPRE1  |  DISEASES
1188  |  CLCNKB  |  DISEASES
9371  |  KIF3B  |  DISEASES
1184  |  CLCN5  |  DISEASES
8029  |  CUBN  |  DISEASES
353  |  APRT  |  DISEASES
5251  |  PHEX  |  DISEASES
57393  |  TMEM27  |  DISEASES
1183  |  CLCN4  |  DISEASES
6557  |  SLC12A1  |  DISEASES
1186  |  CLCN7  |  DISEASES
51429  |  SNX9  |  DISEASES
3758  |  KCNJ1  |  DISEASES
2132  |  EXT2  |  DISEASES
23327  |  NEDD4L  |  DISEASES
7018  |  TF  |  DISEASES
1195  |  CLK1  |  DISEASES
6559  |  SLC12A3  |  DISEASES
846  |  CASR  |  DISEASES
9990  |  SLC12A6  |  DISEASES
567  |  B2M  |  DISEASES
3949  |  LDLR  |  DISEASES
Locus(Waiting for update.)
Disease ID 605
Disease dent disease
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:40)
HP:0003025  |  Metaphyseal irregularity
HP:0000097  |  Focal segmental glomerulosclerosis
HP:0000787  |  Nephrolithiasis
HP:0002979  |  Bowing of the legs
HP:0002748  |  Rickets
HP:0008732  |  Renal hypophosphatemia
HP:0002749  |  Osteomalacia
HP:0000121  |  Nephrocalcinosis
HP:0002150  |  Hypercalciuria
HP:0005576  |  Tubulointerstitial fibrosis
HP:0000083  |  Renal insufficiency
HP:0002752  |  Sparse bone trabeculae
HP:0003236  |  Elevated serum creatine phosphokinase
HP:0003355  |  Aminoaciduria
HP:0001252  |  Muscular hypotonia
HP:0000117  |  Renal phosphate wasting
HP:0000093  |  Proteinuria
HP:0003029  |  Enlargement of the ankles
HP:0003149  |  Hyperuricosuria
HP:0003126  |  Low-molecular-weight proteinuria
HP:0003152  |  Increased serum 1,25-dihydroxyvitamin D3
HP:0000114  |  Proximal tubulopathy
HP:0000790  |  Hematuria
HP:0002753  |  Thin bony cortex
HP:0000092  |  Tubular atrophy
HP:0012622  |  Chronic kidney disease
HP:0011342  |  Mild global developmental delay
HP:0000518  |  Cataract
HP:0010580  |  Enlarged epiphyses
HP:0001256  |  Intellectual disability, mild
HP:0002757  |  Recurrent fractures
HP:0003076  |  Glycosuria
HP:0002663  |  Delayed epiphyseal ossification
HP:0002653  |  Bone pain
HP:0003013  |  Bulging epiphyses
HP:0005574  |  Non-acidotic proximal tubulopathy
HP:0002027  |  Abdominal pain
HP:0003020  |  Enlargement of the wrists
HP:0002814  |  Abnormality of the lower limb
HP:0003109  |  Hyperphosphaturia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:11)
HP:0012531  |  Pain  |  2
HP:0003159  |  Hyperoxaluria  |  1
HP:0000121  |  Nephrocalcinosis  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0030127  |  Endometriosis  |  1
HP:0000789  |  Infertility  |  1
HP:0002150  |  Hypercalcinuria  |  1
HP:0012245  |  Sex reversal  |  1
HP:0000822  |  Hypertension  |  1
HP:0100828  |  Increase in T cell number  |  1
HP:0012532  |  Chronic pain  |  1
Disease ID 605
Disease dent disease
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)