| H00213 | |
| H number | H00213 |
| Name | Hypophosphatasia |
| Description | Hypophosphatasia is an inherited disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | ALPL [HSA:249] [KO:K01077] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Asfotase alfa [DR:D10595] |
| Comment | - |
| Other DBs | ICD-11: 5C64.3 ICD-10: E83.3 MeSH: D007014 OMIM: 146300 241500 241510 |
| Reference | PMID:17916236 AUTHORS Mornet E TITLE Hypophosphatasia. JOURNAL Orphanet J Rare Dis 2:40 (2007) DOI:10.1186/1750-1172-2-40 PMID:10737975 AUTHORS Mornet E TITLE Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. JOURNAL Hum Mutat 15:309-15 (2000) DOI:10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C PMID:18328985 AUTHORS Mornet E TITLE Hypophosphatasia. JOURNAL Best Pract Res Clin Rheumatol 22:113-27 (2008) DOI:10.1016/j.berh.2007.11.003 |