Postaxial Acrofacial Dysostosis (POADS)

Alias:
Miller Syndrome
Poads
Genee-Wiedemann Syndrome
Postaxial Acrodysostosis
Mandibulofacial Dysostosis with Postaxial Limb Anomalies
Acrofacial Dysostosis, Genee-Wiedemann Type
Mandibulfacial Dysostosis with Postaxial Limb Anomalies
Acrofacial Dysostosis, Genee-Wiedmann Type
Genee-Wiedemann Acrofacial Dysostosis
Chromosome 11p Deletion Syndrome
Genée-Wiedemann Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Postaxial Acrofacial Dysostosis, also known as miller syndrome, is related to dysostosis and acrofacial dysostosis. An important gene associated with Postaxial Acrofacial Dysostosis is DHODH (Dihydroorotate Dehydrogenase (Quinone)), and among its related pathways/superpathways are Pyrimidine metabolism and Pyrimidine biosynthesis. The drugs Cimetidine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are microtia and micrognathia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
22
144
22

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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