Hypophosphatemic rickets, X-linked dominant

Preferred Label : Hypophosphatemic rickets, X-linked dominant;

Symbol : XLHRD;

CISMeF acronym : HPDR; HYP; XLH; XLHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HYP; Hypophosphatemia, X-linked; XLH; Vitamin D-resistant rickets, X-linked; Hypophosphatemic vitamin D-resistant rickets; HPDR;

Description : X-linked hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by Gaucher et al., 2009).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the phosphate regulating endopeptidase homolog, X-linked, gene (PHEX, 300550.0001);

Laboratory abnormalities : Hypophosphatemia; Increased serum alkaline phosphatase; Inappropriately normal to low-normal serum 1,25-dihydroxyvitamin D3; Normal serum calcium; Normal to mildly increased serum parathyroid hormone (PTH); Abnormal response of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (609506) to hypophosphatemia;

Prefixed ID : #307800;

Details

Origin ID

307800;

UMLS CUI

C0733682;

Automatic exact mappings (from CISMeF team)
- X-linked hypophosphataemia [MedDRA LLT]
- X-linked hypophosphatemia [MedDRA LLT]
- hypophosphatemia, familial [MeSH Descriptor]
- hypural [UBERON concept]
- phosphate regulating endopeptidase X-linked [ORDO Gene]
- rickets, hypophosphatemic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- X linked hypophosphatemia [Disease (Nov.)]
- X-Linked Dominant Hypophosphatemic Rickets [NCIt concept]
- X-linked dominant hypophosphatemic rickets [DO Concept]
- X-linked hypophosphatemia [ORDO Disease]
- familial hypophosphatemic rickets [MeSH Descriptor]
- hypophosphatemic rickets, X-Linked dominant [MeSH concept]
- vitamin D-Resistant rickets, X-Linked [MeSH concept]
DO Cross reference
- X-linked dominant hypophosphatemic rickets [DO Concept]
Genes related to phenotype
- Phosphate-regulating endopeptidase, X-linked [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Arthralgia [HPO term]
- Bone pain [HPO term]
- Bowing of the legs [HPO term]
- Curvatures of the femur, tibia, fibula [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Enamel hypomineralization [HPO term]
- Femoral bowing [HPO term]
- Fibular bowing [HPO term]
- Flattening of the talar dome [HPO term]
- Frayed, irregular metaphyses [HPO term]
- Frontal bossing [HPO term]
- Hypophosphatemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Metaphyseal irregularity [HPO term]
- Osteoarthritis [HPO term]
- Osteomalacia [HPO term]
- Renal phosphate wasting [HPO term]
- Renal tubular dysfunction [HPO term]
- Short stature [HPO term]
- Shortening of the talar neck [HPO term]
- Spinal canal stenosis [HPO term]
- Spinal cord compression [HPO term]
- Spinal stenosis [HPO term]
- Tibial bowing [HPO term]
- Trapezoidal distal femoral condyles [HPO term]
- X-linked dominant inheritance [HPO term]
Not associated HPO term(s)
- Abnormal circulating calcium concentration [HPO term]
ORDO concept(s)
- X-linked hypophosphatemia [ORDO Disease]
See also inter- (CISMeF)
- familial x-linked hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Dominant Hypophosphatemic Rickets [NCIt concept]
- hypophosphatemic rickets, X-Linked dominant [MeSH concept]

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