Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly (CCF)

Alias:
Familial Clubfoot Due to 5q31 Microdeletion
Ccf
Clubfoot, Congenital, with/without Deficiency of Long Bones and/or Mirror-Image Polydactyly
Hereditary Clubfoot Due to Pitx1 Point Mutation
Familial Clubfoot Due to Pitx1 Point Mutation
Hereditary Clubfoot Due to 5q31 Microdeletion
Talipes Equinovarus
Clubfoot
Tev
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly, also known as familial clubfoot due to 5q31 microdeletion, is related to distal arthrogryposis and polydactyly. An important gene associated with Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly is PITX1 (Paired Like Homeodomain 1), and among its related pathways/superpathways is Ion channel transport. The drugs Clonidine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle, and related phenotypes are short stature and bilateral talipes equinovarus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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11
102
16

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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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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