| H00991 | |
| H番号 | H00991 |
| 名称 | MOPD II |
| 概要 | Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PCNT [HSA:5116] [KO:K16481] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | MOPD II is distinct from Seckel syndrome (H00992) by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. See also H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I). |
| リンク | ICD-11: LD20.2 ICD-10: Q87.1 MeSH: C565898 OMIM: 210720 |
| 文献 | PMID:15368497 著者 Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI タイトル Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. 雑誌 Am J Med Genet A 130A:55-72 (2004) DOI:10.1002/ajmg.a.30203 PMID:9800908 著者 Majewski F, Goecke TO タイトル Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. 雑誌 Am J Med Genet 80:25-31 (1998) DOI:10.1002/(SICI)1096-8628(19981102)80:1<25::AID-AJMG5>3.0.CO;2-0 PMID:19643772 著者 Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V タイトル Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. 雑誌 J Med Genet 47:797-802 (2010) DOI:10.1136/jmg.2009.067298 PMID:19839044 著者 Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G タイトル Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. 雑誌 Am J Med Genet A 149A:2452-6 (2009) DOI:10.1002/ajmg.a.33035 |