Pfeiffer Syndrome (PS)

Pfeiffer Syndrome(来自ICD-11)
别称:
Infectious Mononucleosis
Acs5
Craniofacial-Skeletal-Dermatologic Dysplasia
Gammaherpesviral Mononucleosis
Acrocephalosyndactyly Type 5
Pfeiffer Syndrome Type 3
Acs V
Acrocephalosyndactyly, Type V
Pfeiffer Syndrome Type 2
Pfeiffer Syndrome Type 1
Glandular Fever
Noack Syndrome
Dysplasia, Craniofacial-Skeletal-Dermatologic
Pfeiffer Type Acrocephalosyndactyly
Acrocephalosyndactylia Type V
Classic Pfeiffer Syndrome
Pfeiffer Syndrome Variant
Infectious Adenitis
Pfeiffer's Disease
Filatov's Disease
Monocytic Angina
Pfeiffer Disease
Kissing Disease
Mononucleosis
Pfeiffer
Ps
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pfeiffer Syndrome, also known as infectious mononucleosis, is related to lymphoproliferative syndrome, x-linked, 1 and epstein-barr virus infectious disease, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Valaciclovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are ptosis and high palate
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相关ID:
MESH:D000168
ICD11:1075159878

基础信息

遗传方式
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参考文献
MALACARDS
AD
Antenatal
1-9/1000000
53
728
97

疾病表征

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靶点药物

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MGI
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