Hypophosphatemic rickets, X-linked recessive

Preferred Label : Hypophosphatemic rickets, X-linked recessive;

Symbol : XLHRR;

Type : Phenotype, molecular basis known;

Description : X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the chloride channel 5 gene (CLCN5, 300008.0007);

Laboratory abnormalities : Hypophosphatemia; Hypercalciuria; Low-molecular-weight proteinuria; Appropriately increased serum 1,25-dihydroxyvitamin D3;

Prefixed ID : #300554;

Details

Origin ID

300554;

UMLS CUI

C1845168;

Automatic exact mappings (from CISMeF team)
- Dent Disease [NCIt concept]
- Dent disease [ORDO Disease]
- Dent disease type 1 [ORDO Disease]
- X-linked recessive hypophosphatemic rickets [DO Concept]
- hypophosphatemia, familial [MeSH Descriptor]
Currated CISMeF NLP mapping
- X-linked hypophosphatemia [ORDO Disease]
- familial hypophosphatemic rickets [MeSH Descriptor]
- hypophosphatemic rickets, X-Linked recessive [MeSH concept]
- rickets, X-Linked hypophosphatemic [MeSH concept]
DO Cross reference
- X-linked recessive hypophosphatemic rickets [DO Concept]
Genes related to phenotype
- Chloride channel 5 [OMIM gene]
HPO term(s)
- 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]
- High serum calcitriol [HPO term]
- Hypercalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Increased serum 1,25-dihydroxyvitamin D3 [HPO term]
- Low-molecular-weight proteinuria [HPO term]
- Metaphyseal irregularity [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]
- 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]
Related ORDO disease(s)
- Dent disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypophosphatemic rickets, X-Linked recessive [MeSH concept]

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