Orthopedics > OCOSH Classification > Bone Diseases > Metabolic Bone Diseases > Pathologic Bone Demineralization > Hypophosphatasia > Childhood Hypophosphatasia OMIM

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Childhood Hypophosphatasia OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241510

Description: #241510 HYPOPHOSPHATASIA, CHILDHOOD Gene map locus 1p36.1-p34 childhood hypophosphatasia is caused by mutation in the ALPL gene (171760). As indicated in 241500, at least 2 varieties of recessive hypophosphatasia occur, i.e., the severe infantile (congenital) and the relatively mild childhood forms; the 2 forms are probably allelic (Henthorn et al., 1992). See also the adult form of hypophosphatasia (146300), which may also be allelic.

Type: Reference Material
Author/Contact: McKusick et al
Institution: OMIM
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 59
Added: Sat Mar 31 2007