Poland Syndrome

Poland Syndrome(来自ICD-11)
别称:
Poland Anomaly
Poland Sequence
Poland Syndactyly
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand
Poland's Syndactyly
Poland's Syndrome
Poland's Anomaly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Poland Syndrome, also known as poland anomaly, is related to chromosome 2q35 duplication syndrome and craniofrontonasal dysplasia-poland anomaly syndrome. An important gene associated with Poland Syndrome is PLAAT2 (Phospholipase A And Acyltransferase 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include breast and bone, and related phenotypes are aplasia/hypoplasia of the nipples and aplasia of the pectoralis major muscle
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相关ID:
MESH:D011045
ICD11:1364451323

基础信息

遗传方式
发病时间
患病率/发病率
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相关模型
参考文献
MALACARDS
AR
AD
Newborn
1-9/100000
14
97
41

疾病表征

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HPO概率
Orphanet概率
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基因 & 突变

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靶点药物

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疾病模型

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MGI
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