Dent disease 2

Preferred Label : Dent disease 2;

Symbol : DENT2;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the OCRL inositol polyphosphate-5-phosphatase gene (OCRL, 300535.0005);

Laboratory abnormalities : Low-molecular-weight proteinuria; Hypercalciuria; Aminoaciduria, mild (in some patients); Increased creatine kinase; Increased lactate dehydrogenase;

Prefixed ID : #300555;

Détails

Origin ID

300555;

UMLS CUI

C1845167;

Broader ORDO disease(s)
- Dent disease [ORDO Disease]
Currated CISMeF NLP mapping
- Dent disease type 2 [ICD-11 More detail]
- Dent disease type 2 [ORDO Disease]
- Dent disease type 2 (disorder) [SNOMED CT concept]
- dent disease 2 [MeSH concept]
- dent disease 2 [MeSH Supplementary Concept]
DO Cross reference
- Dent disease [DO Concept]
Genes related to phenotype
- Ocrl inositol polyphosphate-5-phosphatase [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Childhood onset [HPO term]
- Chronic kidney disease [HPO term]
- Cognitive impairment [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hypercalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Low-molecular-weight proteinuria [HPO term]
- Mild global developmental delay [HPO term]
- Nephrocalcinosis [HPO term]
- Proximal tubulopathy [HPO term]
- Short stature [HPO term]
- Umbilical hernia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Dent disease [ORDO Disease]
- Dent disease type 2 [ORDO Disease]
See also inter- (CISMeF)
- OCRL inositol polyphosphate-5-phosphatase [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dent disease type 2 [ORDO Disease]
- Dent disease type 2 (disorder) [SNOMED CT concept]
- dent disease 2 [MeSH Supplementary Concept]
- dent disease 2 [MeSH concept]
Validated automatic mappings to NTBT
- Dent disease [DO Concept]
- Dent disease [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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