贲门失弛缓症-阿狄森氏症-流泪综合征
基因病名称(英)
Achalasia-addisonianism-alacrima syndrome
别名(英)
ACTH-resistant adrenal insufficiency with achalasia and alacrima,Addisonian-achalasia syndrome,Alacrima-achalasia-addisonianism,Alacrima-achalasia-adrenal insufficiency neurologic disorder,Allgrove's syndrome,Allgrove syndrome,Glucocorticoid deficiency and achalasia,Hypoadrenalism with achalasia,Triple-A syndrome
别名
抗 ACTH 肾上腺皮质功能不全伴贲门失弛缓症、艾迪生-贲门失弛缓症、Alacrima-贲门失弛缓症-艾迪生症、Alacrima-贲门失弛缓症-肾上腺功能不全神经系统疾病、Allgrove 综合征、Allgrove 综合征、糖皮质激素缺乏和贲门失弛缓症、肾上腺功能减退症伴贲门失弛缓症、Triple-A 综合征
统计
reviewed:1; annotated:0
交叉引用
231550,C0271742,C1856419,C2931084,D000309
描述(英)
An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.
描述
一种常染色体隐性遗传疾病，其特征是抗促肾上腺皮质激素 (ACTH) 的肾上腺衰竭、食管贲门失弛缓症和流泪。该综合征与涉及中枢、外周和自主神经系统的可变和进行性神经功能障碍有关。其他特征，如掌跖角化过度、身材矮小、面部畸形和骨质疏松症也可能存在。