Netherton Syndrome (NETH)

Netherton Syndrome(来自ICD-11)
别称:
Ns
Comel-Netherton Syndrome
Bamboo Hair Syndrome
Netherton Disease
Neth
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige
Ichthyosis Linearis Circumflexa
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige
Comèl-Netherton Syndrome
N Syndrome
Ilc
Nts
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Netherton Syndrome, also known as ns, is related to dermatitis, atopic and ige responsiveness, atopic, and has symptoms including trichorrhexis invaginata An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor Kazal Type 5), and among its related pathways/superpathways are Nervous system development and Collagen chain trimerization. The drugs Pharmaceutical Solutions and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related phenotypes are malabsorption and ichthyosis
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遗传方式
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参考文献
MALACARDS
AR
Newborn
1-9/1000000
21
119
60

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