Hypophosphatasia, childhood

Preferred Label : Hypophosphatasia, childhood;

Symbol : HPPC;

Type : Phenotype, molecular basis known;

Description : Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal (see 241500), infantile (241500), childhood, and adult (146300). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see 241500). All of these forms are allelic.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alkaline phosphatase gene (ALPL, 171760.0003);

Laboratory abnormalities : Low alkaline phosphatase; Phosphoethanolaminuria; Elevated plasma and urine inorganic pyrophosphate (PPi);

Prefixed ID : #241510;

Details

Origin ID

241510;

UMLS CUI

C0220743;

Automatic exact mappings (from CISMeF team)
- hypophosphatasia [DO Concept]
Broader ORDO disease(s)
- Hypophosphatasia [ORDO Disease]
Currated CISMeF NLP mapping
- Childhood hypophosphatasia (disorder) [SNOMED CT concept]
- Childhood-onset hypophosphatasia [ORDO Disease]
- childhood hypophosphatasia [DO Concept]
- childhood hypophosphatasia [Disease (Nov.)]
- childhood hypophosphatasia [SNOMED Notion]
- hypophosphatasia, childhood [MeSH concept]
- hypophosphatasia, childhood [MeSH Supplementary Concept]
DO Cross reference
- childhood hypophosphatasia [DO Concept]
Genes related to phenotype
- Alkaline phosphatase, liver [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bowing of the legs [HPO term]
- Carious teeth [HPO term]
- Craniostenosis [HPO term]
- Craniosynostosis [HPO term]
- Dolichocephaly [HPO term]
- Elevated plasma pyrophosphate [HPO term]
- Elevated urine pyrophosphate [HPO term]
- Frontal bossing [HPO term]
- Low alkaline phosphatase [HPO term]
- Myopathy [HPO term]
- Phosphoethanolaminuria [HPO term]
- Premature loss of primary teeth [HPO term]
- Proptosis [HPO term]
- Rachitic rosary [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Skin dimple over apex of long bone angulation [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Childhood-onset hypophosphatasia [ORDO Disease]
- Hypophosphatasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Childhood hypophosphatasia (disorder) [SNOMED CT concept]
- Childhood-onset hypophosphatasia [ORDO Disease]
- childhood hypophosphatasia [SNOMED Notion]
- childhood hypophosphatasia [DO Concept]
- childhood hypophosphatasia [Disease (Nov.)]
- hypophosphatasia, childhood [MeSH Supplementary Concept]
- hypophosphatasia, childhood [MeSH concept]

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