" /> Schwannomatosis 1 - CISMeF





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;

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04/05/2025


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