Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandRenal Tubular Transport, Inborn Errors (D015499)
..Starting node
..expandDent Disease (D057973)

       Child Nodes:
........expandLow Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis (C545036)



 Sister Nodes: 
..expandAcidosis, Renal Tubular (D000141) Child11
..expandAzotemia, Familial (C566233)
..expandBartter Syndrome (D001477) Child8
..expandDent Disease (D057973) Child1
..expandDonnai-Barrow syndrome (C536390)
..expandFanconi Syndrome (D005198) Child3
..expandGitelman Syndrome (D053579) Child1
..expandGlycosuria, Renal (D006030) Child1
..expandHypomagnesemia 1, Intestinal (C566593)
..expandHypomagnesemia 2, renal (C537152)
..expandHypomagnesemia 4, Renal (C567127)
..expandHypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..expandHypomagnesemia primary (C537153)
..expandHypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..expandHypophosphatemia, Familial (D007015) Child11
..expandHypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..expandHypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..expandHypouricemia, Renal, 2 (C567426)
..expandIminoglycinuria (C536285)
..expandLiddle Syndrome (D056929)
..expandNephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..expandNephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..expandOculocerebrorenal Syndrome (D009800) Child1
..expandPseudohypoaldosteronism (D011546) Child4
..expandRenal Aminoacidurias (D000608) Child9
..expandRenal hypouricemia (C537757)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3191
Name: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.
Alternative IDs:
ParentIDs:MESH:D015499|MESH:D040181
TreeNumbers:C12.777.419.815.364 |C13.351.968.419.815.364 |C16.320.322.100 |C16.320.565.861.271 |C18.452.648.861.271
Synonyms:Dent's Disease |Dents Disease |Disease, Dent |Disease, Dents |Disease, Dent's
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D057973
MeSH: D057973
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants