| H01825 | |
| H number | H01825 |
| Name | Spondylometaphyseal dysplasia, Sedaghatian type |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06026(H01825) Glutathione biosynthesis nt06525(H01825) Ferroptosis |
| Gene | GPX4 [HSA:2879] [KO:K05361] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.4 ICD-10: Q77.8 MeSH: C535798 OMIM: 250220 |
| Reference | PMID:9556300 AUTHORS Elcioglu N, Hall CM TITLE Spondylometaphyseal dysplasia-Sedaghatian type. JOURNAL 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 AUTHORS Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L TITLE Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. JOURNAL Am J Med Genet A 158A:1400-5 (2012) DOI:10.1002/ajmg.a.35306 PMID:24706940 (GPX4) AUTHORS 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 TITLE Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. JOURNAL J Med Genet 51:470-4 (2014) DOI:10.1136/jmedgenet-2013-102218 |