| H00518 | |
| H番号 | H00518 |
| 名称 | 貧毛を伴わない骨幹端形成異常 |
| 概要 | Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency. |
| カテゴリ | リボソーム病 |
| ネットワーク | - |
| 病因遺伝子 | RMRP [HSA:6023] [KO:K14576] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.7 ICD-10: Q78.8 MeSH: C563574 OMIM: 250460 |
| 文献 | PMID:17189938 著者 Martin AN, Li Y タイトル RNase MRP RNA and human genetic diseases. 雑誌 Cell Res 17:219-26 (2007) DOI:10.1038/sj.cr.7310120 PMID:11940090 著者 Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A タイトル RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 雑誌 Clin Genet 61:146-51 (2002) DOI:10.1034/j.1399-0004.2002.610210.x |