Schwannomatosis 1 (SWN1)

Alias:
Schwannomatosis-1, Susceptibility to
Swnts1
Swn1
Neurilemmomatosis, Congenital Cutaneous
Congenital Cutaneous Neurilemmomatosis
Smarcb1-Related Schwannomatosis
Schwannomatosis, Type 1
Neurofibromatosis 3
Schwannomatosis-1
Schwannomatosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Schwannomatosis 1, also known as schwannomatosis-1, susceptibility to, is related to schwannomatosis and neurofibromatosis. An important gene associated with Schwannomatosis 1 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). The drugs Erenumab and Siltuximab have been mentioned in the context of this disorder. Affiliated tissues include brain and peripheral nerve, and related phenotypes are Decreased viability and Increased proliferation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
20
17

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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