Schwannomatosis 1

Preferred Label : Schwannomatosis 1;

Symbol : SWN1;

CISMeF acronym : SWNTS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurilemmomatosis, congenital cutaneous; SWNTS1;

Description : Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis II (NF2; 101000). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofibromin-2 gene (NF2, 607379.0017); Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, 601607.0005);

Neoplasia : Multiple schwannomas; Meningiomas;

Prefixed ID : #162091;

Details

Origin ID

162091;

UMLS CUI

C4048809;

Automatic exact mappings (from CISMeF team)
- SMARCB1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Neurofibromatosis type 3 [ICD-11 Sub-sub category]
DO Cross reference
- neurilemmomatosis [DO Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Abnormality of the vertebral column [HPO term]
- Autosomal dominant inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Meningioma [HPO term]
- Somatic mutation [HPO term]
- Spinal cord tumor [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Schwannoma [HPO term]
ORDO concept(s)
- Full schwannomatosis [ORDO Disease]
See also inter- (CISMeF)
- Neurofibromatosis type 3 [ICD-11 Sub-sub category]
- Neurofibromatosis type 3 (disorder) [Inactive SNOMED CT concept]
- Schwannomatosis [Radlex concept]
- neurofibromatosis 3 [MeSH concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
Validated automatic mappings to NTBT
- Full schwannomatosis [ORDO Disease]
- Schwannomatosis [MeSH concept]
- Schwannomatosis [NCIt concept]
- Schwannomatosis (disorder) [SNOMED CT concept]
- neurilemmomatosis [DO Concept]
- neurofibromatoses [MeSH Descriptor]
- schwannomatosis [MeSH Supplementary Concept]

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