Phosphoribosylaminoimidazole Carboxylase Deficiency (PAICSD)

Alias:
Paicsd
Paics Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phosphoribosylaminoimidazole Carboxylase Deficiency, also known as paicsd, is related to adenylosuccinase deficiency and aica-ribosuria due to atic deficiency. An important gene associated with Phosphoribosylaminoimidazole Carboxylase Deficiency is PAICS (Phosphoribosylaminoimidazole Carboxylase And Phosphoribosylaminoimidazolesuccinocarboxamide Synthase). Affiliated tissues include lung, and related phenotypes are short neck and depressed nasal bridge
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
3
1

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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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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