Dent disease 1

Preferred Label : Dent disease 1;

Symbol : DENT1;

CISMeF acronym : NPHL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Urolithiasis, hypercalciuric, X-linked; Nephrolithiasis 2; Nephrolithiasis, hypercalciuric, X-linked; NPHL2;

Description : 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. - Genetic Heterogeneity of Dent Disease See also Dent disease-2 (300555), which is caused by mutation in the;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the chloride channel 5 gene (CLCN5, 300008.0001);

Laboratory abnormalities : Low-molecular-weight proteinuria; Hypercalciuria; Hypophosphatemia; Hyperphosphaturia; Aminoaciduria; Glycosuria; Microscopic hematuria; Appropriately increased serum 1,25-dihydroxyvitamin D3;

Prefixed ID : #300009;

Details

Origin ID

300009;

UMLS CUI

C1848336;

Broader ORDO disease(s)
- Dent disease [ORDO Disease]
Currated CISMeF NLP mapping
- Dent disease 1 [MeSH concept]
- Dent disease type 1 [ICD-11 More detail]
- Dent disease type 1 [ORDO Disease]
- Dent disease type 1 (disorder) [SNOMED CT concept]
- dent disease 1 [MeSH Supplementary Concept]
DO Cross reference
- Dent disease [DO Concept]
Genes related to phenotype
- Chloride channel 5 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Bone pain [HPO term]
- Bowing of the legs [HPO term]
- Bulging epiphyses [HPO term]
- Chronic kidney disease [HPO term]
- Curvatures of the femur, tibia, fibula [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Enlargement of the ankles [HPO term]
- Enlargement of the wrists [HPO term]
- Femoral bowing [HPO term]
- Fibular bowing [HPO term]
- Frayed, irregular metaphyses [HPO term]
- Glycosuria [HPO term]
- High serum calcitriol [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphaturia [HPO term]
- Hypophosphatemia [HPO term]
- Increased serum 1,25-dihydroxyvitamin D3 [HPO term]
- Low-molecular-weight proteinuria [HPO term]
- Metaphyseal irregularity [HPO term]
- Microscopic hematuria [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Osteomalacia [HPO term]
- Progressive renal insufficiency [HPO term]
- Proximal tubulopathy [HPO term]
- Recurrent fractures [HPO term]
- Renal failure in adulthood [HPO term]
- Renal insufficiency [HPO term]
- Renal phosphate wasting [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
- Sparse bone trabeculae [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thin bony cortex [HPO term]
- Tibial bowing [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Dent disease [ORDO Disease]
- Dent disease type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dent disease 1 [MeSH concept]
- Dent disease type 1 [ORDO Disease]
- Dent disease type 1 (disorder) [SNOMED CT concept]
- dent disease 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Dent disease [DO Concept]
- Dent disease [ORDO Disease]

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