SCHWANNOMATOSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS
Number of Symptoms 5
OrphanetNr:
OMIM Id: 162091
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100008) Schwannoma 6 / 7739
2
(HPO:0010302) Spinal cord tumor 5 / 7739
3
(HPO:0002858) Meningioma 22 / 7739
4
(OMIM) Absence of vestibular schwannomas at age greater than 18 years 1 / 7739
5
(OMIM) Multiple schwannomas 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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; ...
Clinical Description OMIM Swensen et al. (2009) reported a family with hereditary schwannomatosis spanning 4 generations associated with a germline duplication in the SMARCB1 gene (601607.0009). Affected individuals developed painful skin lumps in their teenage years. Two family members with mutations ...
Molecular genetics OMIM - Mutations in the SMARCB1 Gene

Since the NF2 locus had been excluded as the germline event underlying familial schwannomatosis, and the gene placed centromeric to NF2 on chromosome 22, Hulsebos et al. (2007) investigated the ...