Netherton Syndrome (NETH)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
21
119
60

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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