Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias (GUTTS)

Alias:
Guttmacher Syndrome
Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias
Gutts
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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
前轴缺陷、后轴多趾和尿道下裂,也被称为古特曼综合症,与尿道下裂和手足生殖器综合症有关。与前轴缺陷、后轴多趾和尿道下裂有关的重要基因是HOXA13(Homeobox A13),其相关通路/超通路包括控制肾发生的相关基因。相关组织包括骨,相关表型为短拇指和后轴手多趾。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
15
119
2

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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