Autoimmune Polyendocrine Syndrome Type 1 (APS1)

Autoimmune Polyendocrine Syndrome Type 1(来自ICD-11)
别称:
Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome
Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome
Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome
Autoimmune Polyglandular Syndrome Type 1
Autoimmune Polyendocrinopathy Type 1
Whitaker Syndrome
Apeced Syndrome
Medac Syndrome
Ham Syndrome
Aps Type 1
Aps1
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Polyglandular Type I Autoimmune Syndrome
Autoimmune Polyglandular Syndrome I
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome, is related to autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and polyendocrinopathy, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are MAP kinase activation and Allograft rejection. The drugs Hydroxyurea and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include eye and thyroid, and related phenotypes are visual impairment and photophobia
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基础信息

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参考文献
MALACARDS
--
Unknown
1-9/1000000
33
390
113

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MGI
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