| H00491 | |
| H number | H00491 |
| Name | Craniometaphyseal dysplasia |
| Description | Craniometaphyseal dysplasia, caused by mutations in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones. |
| Category | Congenital malformation |
| Network | - |
| Gene | ANKH [HSA:56172] [KO:K22734] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.1Y ICD-10: Q78.8 MeSH: C537519 OMIM: 123000 |
| Reference | PMID:20301634 AUTHORS Reichenberger E, Chen IP TITLE Craniometaphyseal Dysplasia, Autosomal Dominant JOURNAL GeneReviews (1993) PMID:20186813 AUTHORS Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD TITLE Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. JOURNAL Am J Med Genet A 152A:770-6 (2010) DOI:10.1002/ajmg.a.33317 |