| H01194 | |
| H番号 | H01194 |
| 名称 | X連鎖性点状軟骨異形成症 |
| 概要 | Chondrodysplasia punctata (CDP) is a congenital disorder characterized by a skeletal abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different forms of CDP exist, the most common of which is inherited as an autosomal recessive trait (Rhizomelic CDP). CDP may also be inherited in a recessive and dominant X-linked fashion. The X-linked recessive CDP (CDPX1) characterized by facial anomalies with severe nasal hypoplasia, short stature, and distal phalangeal hypoplasia. Mutations in ARSE which encodes arylsulfatase E, showing a high sequence homology to steroid sulfatase. In X-linked dominant CDP (CDPX2), aberrant punctate calcification in cartilage is most prominent around the vertebral column, pelvis, and long bones. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, and atrophoderma. It has been found that defects in D8-D7 sterol isomerase (EBP) cause CDPX2 and suggest a role for sterols in bone development. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06034(H01194) Cholesterol biosynthesis |
| 病因遺伝子 | (CDPX1) ARSL [HSA:415] [KO:K18222] (CDPX2) EBP [HSA:10682] [KO:K01824] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Rhizomelic chondrodysplasia punctata is described in H00207. [DS:H00207] |
| リンク | ICD-11: LD24.04 ICD-10: Q77.3 MeSH: C580533 C538416 OMIM: 302950 302960 |
| 文献 | PMID:12567415 (ARSL) 著者 Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G タイトル X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. 雑誌 Am J Med Genet A 117A:164-8 (2003) DOI:10.1002/ajmg.a.10950 PMID:10391219 (EBP) 著者 Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D タイトル Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. 雑誌 Nat Genet 22:291-4 (1999) DOI:10.1038/10357 |