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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias, also known as guttmacher syndrome, is related to hypospadias and hand-foot-genital syndrome. An important gene associated with Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias is HOXA13 (Homeobox A13), and among its related pathways/superpathways is Genes controlling nephrogenesis. Affiliated tissues include bone, and related phenotypes are short thumb and postaxial hand polydactyly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
15
119
2

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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