Hypophosphatasia, Childhood (HPPC)

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Disease Ontology 12 DOID:0110915 OMIM® 57 241510 ICD10 via Orphanet 33 E83.3 UMLS via Orphanet 71 C0220743

Orphanet 58 ORPHA247667 MedGen 41 C0220743 SNOMED-CT via HPO 68 122483006 128613002 129565002 15214001 18265008 237836003 246545002 249702007 258211005 271706000 299331007 313307000 39034005 55236002 57219006 72239002 80967001 84757009 90145001 91175000 more UMLS 70 C0220743

GARD : ²⁰ Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature ; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes ( mutations ) in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the FDA.

MalaCards based summary : Hypophosphatasia, Childhood, also known as childhood hypophosphatasia, is related to hypophosphatasia and hypophosphatasia, infantile, and has symptoms including seizures and waddling gait. An important gene associated with Hypophosphatasia, Childhood is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are NAD metabolism and Endochondral Ossification. Affiliated tissues include bone, colon and kidney, and related phenotypes are frontal bossing and carious teeth

Disease Ontology : ¹² A hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12.

OMIM® : ⁵⁷ Hypophosphatasia (HPP) 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. (241510) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² Hypophosphatasia childhood type: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.

Clinical features from OMIM®:

241510 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Hypophosphatasia, Childhood

Search GEO for disease gene expression data for Hypophosphatasia, Childhood.