Hypophosphatemic rickets with hypercalciuria, hereditary

Preferred Label : Hypophosphatemic rickets with hypercalciuria, hereditary;

Symbol : HHRH;

CISMeF acronym : HHRH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypercalciuric rickets;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 34, member 3 gene (609826.0001);

Laboratory abnormalities : Hypophosphatemia; Increased serum 1,25-dihydroxyvitamin D3; Increased serum alkaline phosphatase; Decreased or low-normal serum parathyroid hormone (PTH); Normal serum calcium; Hypercalciuria;

Prefixed ID : #241530;

Details

Origin ID

241530;

UMLS CUI

C1853271;

Currated CISMeF NLP mapping
- Autosomal recessive hypophosphatemic bone disease (disorder) [SNOMED CT concept]
- Hereditary Hypophosphatemic Rickets with Hypercalciuria [NCIt concept]
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
- Hereditary hypophosphatemic rickets with hypercalciuria (disorder) [SNOMED CT concept]
- hereditary hypophosphatemic rickets with hypercalciuria [DO Concept]
- hereditary hypophosphatemic rickets with hypercalciuria [Disease (Nov.)]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH concept]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH Supplementary Concept]
DO Cross reference
- hereditary hypophosphatemic rickets with hypercalciuria [DO Concept]
Genes related to phenotype
- Solute carrier family 34 (sodium/phosphate cotransporter), member 3 [OMIM gene]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone pain [HPO term]
- Bowing of the legs [HPO term]
- Bulging epiphyses [HPO term]
- Bulging of the costochondral junction [HPO term]
- Calcium nephrolithiasis [HPO term]
- Curvatures of the femur, tibia, fibula [HPO term]
- Deformed rib cage [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Difficulty standing [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Enlargement of the ankles [HPO term]
- Enlargement of the costochondral junction [HPO term]
- Enlargement of the wrists [HPO term]
- Failure to thrive [HPO term]
- Femoral bowing [HPO term]
- Fibular bowing [HPO term]
- Flat occiput [HPO term]
- Frayed, irregular metaphyses [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- High serum calcitriol [HPO term]
- Hypercalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Hypotonia [HPO term]
- Increased serum 1,25-dihydroxyvitamin D3 [HPO term]
- Infantile onset [HPO term]
- Metaphyseal irregularity [HPO term]
- Muscle weakness [HPO term]
- Posterior flattening of the skull [HPO term]
- Recurrent fractures [HPO term]
- Renal phosphate wasting [HPO term]
- Renal tubular dysfunction [HPO term]
- Rickets [HPO term]
- Sparse bone trabeculae [HPO term]
- Thin bony cortex [HPO term]
- Tibial bowing [HPO term]
- Usually autosomal dominant [HPO term]
- Widely patent fontanelles and sutures [HPO term]
Not associated HPO term(s)
- Abnormal circulating calcium concentration [HPO term]
ORDO concept(s)
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hypophosphatemic bone disease (disorder) [SNOMED CT concept]
- Hereditary Hypophosphatemic Rickets with Hypercalciuria [NCIt concept]
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
- Hereditary hypophosphatemic rickets with hypercalciuria (disorder) [SNOMED CT concept]
- hereditary hypophosphatemic rickets with hypercalciuria [DO Concept]
- hereditary hypophosphatemic rickets with hypercalciuria [Disease (Nov.)]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH concept]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH Supplementary Concept]

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