loading...| Preferred Name | Dent disease type 1 | |
| Synonyms |
|
|
| Definitions |
A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_93622 |
|
| definition |
A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93622 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
X-linked recessive |
|
| hasDbXref |
OMIM:300554 MeSH:C538212 ICD-10:N25.8 OMIM:300009 OMIM:310468 ICD-11:GB90.42 UMLS:C1848336 OMIM:308990 |
|
| label |
Dent disease type 1 |
|
| notation |
ORPHA:93622 Clinical subtype |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_93622 |
|
| prefLabel |
Dent disease type 1 |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |