| H00799 | |
| H番号 | H00799 |
| 名称 | CEDNIK 症候群 |
| 概要 | CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family of proteins, is linked to abnormal lamellar granule maturation and abnormal epidermal differentiation. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | SNAP29 [HSA:9342] [KO:K08509] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.2 ICD-10: Q82.8 MeSH: C537943 OMIM: 609528 |
| 文献 | PMID:15968592 著者 Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H タイトル A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. 雑誌 Am J Hum Genet 77:242-51 (2005) DOI:10.1086/432556 PMID:21073448 著者 Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E タイトル CEDNIK syndrome results from loss-of-function mutations in SNAP29. 雑誌 Br J Dermatol 164:610-6 (2011) DOI:10.1111/j.1365-2133.2010.10133.x |