Hypercalcemia, infantile, 1

Preferred Label : Hypercalcemia, infantile, 1;

Symbol : HCINF1;

CISMeF acronym : HCINF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypercalcemia, idiopathic, of infancy;

Description : Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in cytochrome P450, family 24, subfamily A, polypeptide-1 gene (CYP24A1, 126065.0001);

Laboratory abnormalities : Hypercalcemia; Hypercalciuria; Dehydration;

Prefixed ID : #143880;

Details

Origin ID

143880;

UMLS CUI

C4310232;

Automatic exact mappings (from CISMeF team)
- Hypercalcemia, Infantile, 1 [MeSH concept]
- Idiopathic hypercalcemia of infancy (disorder) [SNOMED CT concept]
- hypercalcemia, idiopathic, of infancy [MeSH concept]
- hypercalcemia, idiopathic, of infancy [MeSH Supplementary Concept]
- idiopathic hypercalcemia of infancy [SNOMED Notion]
Currated CISMeF NLP mapping
- Autosomal recessive infantile hypercalcemia [ORDO Disease]
- Infantile hypercalcemia [HPO term]
- Infantile hypercalcemia (disorder) [SNOMED CT concept]
- hypercalcemia, infantile [MeSH concept]
- hypercalcemia, infantile [MeSH Supplementary Concept]
Genes related to phenotype
- Cytochrome p450, family 24, subfamily a, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Elfin facies [HPO term]
- Failure to thrive [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Hypercalciuria [HPO term]
- Hypotonia [HPO term]
- Infantile hypercalcemia [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Polyuria [HPO term]
- Pulmonic stenosis [HPO term]
- Thick lower lip vermilion [HPO term]
- Vomiting [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Autosomal recessive infantile hypercalcemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile hypercalcaemia type 1 [MedDRA LLT]
- Infantile hypercalcemia type 1 [MedDRA LLT]

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