Hypophosphatasia, Childhood (HOPSC)

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Disease Ontology 12 DOID:0110915 OMIM 58 241510 ICD10 via Orphanet 35 E83.3 UMLS via Orphanet 75 C0220743

Orphanet 60 ORPHA247667 MedGen 43 C0220743 SNOMED-CT via HPO 70 122483006 128613002 129565002 15214001 18265008 237836003 246545002 249702007 258211005 271706000 299331007 313307000 39034005 55236002 57219006 72239002 80967001 84757009 90145001 91175000 more UMLS 74 C0220743

NIH Rare Diseases : ⁵⁴ 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, adult, 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 Metabolism of proteins and NAD metabolism. Affiliated tissues include bone, skin and testis, and related phenotypes are frontal bossing and seizures

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

OMIM : ⁵⁸ 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 : ⁷⁶ 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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased cell migration	GR00055-A-1	9.13	ALPG ALPI ALPL
2	Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance	GR00210-A	8.8	ALPI ALPL ALPP

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