Hypophosphatasia, infantile

Preferred Label : Hypophosphatasia, infantile;

Symbol : HPPI;

CISMeF acronym : HOPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HOPS; PHOSPHOETHANOLAMINURIA;

Included titles and symbols : Hypophosphatasia, perinatal lethal; HPPN;

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, infantile, childhood (241510), and adult (146300). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see 146300). All of these forms are allelic.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alkaline phosphatase gene (ALPL, 171760.0001);

Laboratory abnormalities : Hypercalcemia; Hypercalciuria; Phosphoethanolaminuria; Elevated plasma and urine inorganic pyrophosphate (PPi); Decreased tissue and serum alkaline phosphatase; Elevated serum phosphate in heterozygotes; Low serum alkaline phosphatase in heterozygotes; Mildly elevated phosphoethanolamine urinary excretion in heterozygotes;

Prefixed ID : #241500;

Details

Origin ID

241500;

UMLS CUI

C0268412;

Automatic exact mappings (from CISMeF team)
- ALPL wt Allele [NCIt concept]
- Cisplatin/Ifosfamide/Vincristine [NCIt concept]
- Hopping (observable entity) [SNOMED CT concept]
- Hops [NCIt concept]
- Humulus lupulus (organism) [SNOMED CT concept]
- Hypophosphatasia [ORDO Disease]
- Perinatal lethal hypophosphatasia [ORDO Disease]
- Phosphoethanolaminuria [HPO term]
- ST13 wt Allele [NCIt concept]
- hospitals, special [CISMeF resources Type]
- hospitals, special [MeSH Descriptor]
- humulus [MeSH Descriptor]
- humulus [MeSH concept]
- hypophosphatasia, perinatal lethal [MeSH Supplementary Concept]
- hypophosphatasia, perinatal lethal [MeSH concept]
Broader ORDO disease(s)
- Hypophosphatasia [ORDO Disease]
Currated CISMeF NLP mapping
- Infantile hypophosphatasia [ORDO Disease]
- Infantile hypophosphatasia (disorder) [SNOMED CT concept]
- hypophosphatasia, infantile [MeSH concept]
- hypophosphatasia, infantile [MeSH Supplementary Concept]
- infantile hypophosphatasia [DO Concept]
- infantile hypophosphatasia [Disease (Nov.)]
- infantile hypophosphatasia [SNOMED Notion]
DO Cross reference
- infantile hypophosphatasia [DO Concept]
Genes related to phenotype
- Alkaline phosphatase, liver [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the voice [HPO term]
- Anemia [HPO term]
- Anorexia [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Bowed, short lower extremities [HPO term]
- Bowing of the legs [HPO term]
- Constipation [HPO term]
- Craniosynostosis [HPO term]
- Death in infancy [HPO term]
- Decreased calvarial ossification [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Elevated plasma pyrophosphate [HPO term]
- Elevated urine pyrophosphate [HPO term]
- Failure to thrive [HPO term]
- Fever [HPO term]
- Generalized hypotonia [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hypotonia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intracranial hemorrhage [HPO term]
- Irritability [HPO term]
- Metaphyseal cupping [HPO term]
- Micromelia [HPO term]
- Nephrocalcinosis [HPO term]
- Phosphoethanolaminuria [HPO term]
- Platyspondyly [HPO term]
- Polyhydramnios [HPO term]
- Rachitic rosary [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Short limb dwarfism [HPO term]
- Short lower limbs [HPO term]
- Short ribs [HPO term]
- Short, bowed limbs [HPO term]
- Skin dimple over apex of long bone angulation [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Stillborn or death in infancy [HPO term]
- Unossified vertebral bodies [HPO term]
- Vertebral clefting [HPO term]
- Vomiting [HPO term]
- Widely patent fontanelles and sutures [HPO term]
ORDO concept(s)
- Hypophosphatasia [ORDO Disease]
- Infantile hypophosphatasia [ORDO Disease]
- Perinatal lethal hypophosphatasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile hypophosphatasia [ORDO Disease]
- Infantile hypophosphatasia (disorder) [SNOMED CT concept]
- Phosphoethanolaminuria [HPO term]
- hypophosphatasia, infantile [MeSH Supplementary Concept]
- hypophosphatasia, infantile [MeSH concept]
- infantile hypophosphatasia [SNOMED Notion]
- infantile hypophosphatasia [DO Concept]
- infantile hypophosphatasia [Disease (Nov.)]

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