| H00619 | |
| H番号 | H00619 |
| 名称 | ケニー・キャフェイ症候群 |
| 概要 | Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have mutations in TBCE gene that encodes chaperone proteins of tubulins. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | TBCE [HSA:6905] [KO:K21768] FAM111A [HSA:63901] [KO:K24274] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.D ICD-10: Q87.1 MeSH: C537020 OMIM: 244460 127000 |
| 文献 | PMID:9806825 著者 Diaz GA, Khan KT, Gelb BD タイトル The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. 雑誌 Genomics 54:13-8 (1998) DOI:10.1006/geno.1998.5530 PMID:12389028 著者 Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD タイトル Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 雑誌 Nat Genet 32:448-52 (2002) DOI:10.1038/ng1012 PMID:23684011 著者 Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A タイトル FAM111A mutations result in hypoparathyroidism and impaired skeletal development. 雑誌 Am J Hum Genet 92:990-5 (2013) DOI:10.1016/j.ajhg.2013.04.020 |