Bamforth-Lazarus Syndrome (BAMLAZ)

Bamforth-Lazarus综合征(来自ICD-11)

别称:

Bamforth Syndrome

Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome

Hypothyroidism-Cleft Palate Syndrome

Bamlaz

Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate

Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate

Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Bamforth-Lazarus 综合征，也称为 Bamforth 综合征，与先天性甲状腺功能减退症和后鼻孔闭锁有关。与 Bamforth-Lazarus 综合征有关的重要基因是 FOXE1 (Forkhead Box E1)，其相关通路/超级通路包括甲状腺激素的产生和外周下游信号效应以及胺衍生激素的代谢。附属组织包括甲状腺，相关表型包括智力障碍和腭裂。

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