Full Schwannomatosis

Alias:
Full Neurofibromatosis Type 3
Nonmosaic Schwannomatosis
Neurilemmomatosis
Full Nf3
Full Swn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Full Schwannomatosis, also known as full neurofibromatosis type 3, is related to schwannomatosis 1 and schwannomatosis. An important gene associated with Full Schwannomatosis is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). Affiliated tissues include skin and spinal cord, and related phenotypes are schwannoma and spinal cord tumor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
4
29
--

Medical Symptom

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

Gene & Mutation

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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
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IF
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