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SWNTS1
MCID: SCH077
MIFTS: 29
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Schwannomatosis 1 (SWNTS1)
Categories:
Cancer diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Schwannomatosis 1:
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable expressivity incomplete penetrance germline and somatic mutations contribute to this disorder HPO:33
schwannomatosis 1:
Onset and clinical course variable expressivity incomplete penetrance Inheritance somatic mutation autosomal dominant inheritance Classifications: |
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OMIM
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58
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).
(162091)
MalaCards based summary : Schwannomatosis 1, also known as schwannomatosis, somatic, is related to neurilemmomatosis and schwannomatosis 2. An important gene associated with Schwannomatosis 1 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 meningioma and abnormality of the vertebral column Genetics Home Reference : 26 Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor. UniProtKB/Swiss-Prot : 76 Schwannomatosis 1: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. Wikipedia : 77 Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder... more... |
Diseases in the Schwannomatosis 1 family:
Diseases related to Schwannomatosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of the top 20 diseases related to Schwannomatosis 1:
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Human phenotypes related to Schwannomatosis 1:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:162091GenomeRNAi Phenotypes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:27
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MalaCards organs/tissues related to Schwannomatosis 1:42
Skin,
Spinal Cord
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Genes related to Schwannomatosis 1 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Schwannomatosis 1:6 (show top 50) (show all 77)
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Search
GEO
for disease gene expression data for Schwannomatosis 1.
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Biological processes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:
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