Hypophosphatasia, Childhood

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OMIM 57 241510 Disease Ontology 12 DOID:0110915 Orphanet 59 ORPHA247667 ICD10 via Orphanet 34 E83.3

UMLS via Orphanet 74 C0220743 MedGen 42 C0220743 SNOMED-CT via HPO 69 258211005 72239002 18265008 80967001 15214001 249702007 128613002 246545002 313307000 84757009 91175000 57219006 90145001 271706000 299331007 129565002 55236002 237836003 122483006 39034005 more

NIH Rare Diseases : ⁵³ 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, Liver/Bone/Kidney). Affiliated tissues include bone and skin, and related phenotypes are dolichocephaly and proptosis

OMIM : ⁵⁷ 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. (241510)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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

Clinical features from OMIM:

241510

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