VACTERL with hydrocephalus

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 3 （症例報告）

   


（表示件数）
対応する徴候・症状  遺伝子  変異  キーワード（MeSH）
順位
（類似度）		 PMID
(PMCID)
1
(35.4%)		 15127761
 VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient.
Vatansever U, Basaran UN, Guzel A, Acunas B, Balci S.
Clin Dysmorphol. 2004;13(1):29-30.
水頭症 三指節母指
X線コンピュータ断層撮影 ヒト 女 幼児 新生児 水頭症 甲状腺機能低下症
2
(4.0%)		 8882398
 VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.
Froster UG, Wallner SJ, Reusche E, Schwinger E, Rehder H.
Am J Med Genet. 1996;62(2):169-72.
水頭症
ヒト 出生前超音波検査 女 妊娠 水頭症 男 症候群 脳 致死的転帰 鰓部
2
(4.0%)		 2816994
 VACTERL with hydrocephalus: further delineation of the syndrome(s)
Evans JA, Stranc LC, Kaplan P, Hunter AG.
Am J Med Genet. 1989;34(2):177-82.
水頭症
ヒト 劣性遺伝子 女 幼児 性比 新生児 水頭症 男 症候群 発生率
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 33

HPO ID 徴候・症状 頻度
HP:0000104 腎無発生 Very frequent (99-80%)
HP:0000238 水頭症 Very frequent (99-80%)
HP:0000482 小角膜 Very frequent (99-80%)
HP:0000587 視神経の異常 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001511 子宮内成長遅滞 Very frequent (99-80%)
HP:0001561 羊水過多 Very frequent (99-80%)
HP:0002023 鎖肛 Very frequent (99-80%)
HP:0002032 食道閉鎖 Very frequent (99-80%)
HP:0002410 水道狭窄 Very frequent (99-80%)
HP:0002575 気管食道瘻 Very frequent (99-80%)
HP:0008678 腎低形成/無形成 Very frequent (99-80%)
HP:0002937 半脊椎 Frequent (79-30%)
HP:0002984 橈骨低形成 Frequent (79-30%)
HP:0003312 椎体骨形態異常 Frequent (79-30%)
HP:0030680 Abnormality of cardiovascular system morphology Frequent (79-30%)
HP:0000023 鼠径ヘルニア Occasional (29-5%)
HP:0000028 停留精巣 Occasional (29-5%)
HP:0000278 下顎後退 Occasional (29-5%)
HP:0000347 小顎 Occasional (29-5%)
HP:0000356 外耳の異常 Occasional (29-5%)
HP:0000528 無眼球 Occasional (29-5%)
HP:0000568 小眼球 Occasional (29-5%)
HP:0001195 単一臍帯動脈 Occasional (29-5%)
HP:0002089 肺低形成 Occasional (29-5%)
HP:0002139 無嗅脳症 Occasional (29-5%)
HP:0002414 二分脊椎 Occasional (29-5%)
HP:0002827 股関節脱臼 Occasional (29-5%)
HP:0009892 無耳 Occasional (29-5%)
HP:0010305 仙骨欠損 Occasional (29-5%)
HP:0011027 卵管異常 Occasional (29-5%)
HP:0011267 小耳, 3度 Occasional (29-5%)
HP:0100541 大腿ヘルニア Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 1

HPO ID 徴候・症状 症例報告数
HP:0002023 鎖肛 1


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 1

Gene Symbol 遺伝子名 Entrez Gene ID
FANCB FA complementation group B 2187