| H01825 | |
| H番号 | H01825 |
| 名称 | Sedaghatian 型脊椎骨幹端異形成症 |
| 概要 | Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06026(H01825) Glutathione biosynthesis nt06525(H01825) Ferroptosis |
| 病因遺伝子 | GPX4 [HSA:2879] [KO:K05361] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.4 ICD-10: Q77.8 MeSH: C535798 OMIM: 250220 |
| 文献 | PMID:9556300 著者 Elcioglu N, Hall CM タイトル Spondylometaphyseal dysplasia-Sedaghatian type. 雑誌 Am J Med Genet 76:410-4 (1998) DOI:10.1002/(SICI)1096-8628(19980413)76:5<410::AID-AJMG8>3.0.CO;2-Q PMID:22529034 著者 Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L タイトル Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. 雑誌 Am J Med Genet A 158A:1400-5 (2012) DOI:10.1002/ajmg.a.35306 PMID:24706940 (GPX4) 著者 Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE タイトル Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. 雑誌 J Med Genet 51:470-4 (2014) DOI:10.1136/jmedgenet-2013-102218 |