| H01832 | |
| H番号 | H01832 |
| 名称 | Lenz-Majewski 症候群 |
| 概要 | Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PTDSS1 [HSA:9791] [KO:K08729] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.1Y ICD-10: Q87.1 MeSH: C537115 OMIM: 151050 |
| 文献 | PMID:5249155 著者 Braham RL タイトル Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. 雑誌 Oral Surg Oral Med Oral Pathol 27:20-6 (1969) DOI:10.1016/0030-4220(69)90026-7 PMID:27044099 著者 Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ, Balla T タイトル Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. 雑誌 Proc Natl Acad Sci U S A 113:4314-9 (2016) DOI:10.1073/pnas.1525719113 PMID:24241535 著者 Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlova M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE タイトル Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 雑誌 Nat Genet 46:70-6 (2014) DOI:10.1038/ng.2829 PMID:26117586 著者 Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK タイトル Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. 雑誌 Eur J Med Genet 58:392-9 (2015) DOI:10.1016/j.ejmg.2015.06.002 |