SWNTS2
MCID: SCH088
MIFTS: 23
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Schwannomatosis 2 (SWNTS2)
Categories:
Cancer diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Schwannomatosis 2:
Characteristics:OMIM:57
Miscellaneous:
variable expressivity incomplete penetrance germline and somatic mutations contribute to this disorder
Inheritance:
autosomal dominant HPO:32
schwannomatosis 2:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity incomplete penetrance Classifications: |
OMIM
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57
Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by Piotrowski et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 (162091). (615670)
MalaCards based summary : Schwannomatosis 2, is also known as schwannomatosis-2, susceptibility to. An important gene associated with Schwannomatosis 2 is LZTR1 (Leucine Zipper Like Transcription Regulator 1). Affiliated tissues include spinal cord, and related phenotypes are spinal cord tumor and schwannoma UniProtKB/Swiss-Prot : 74 Schwannomatosis 2: A cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. |
Human phenotypes related to Schwannomatosis 2:32
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MalaCards organs/tissues related to Schwannomatosis 2:41
Spinal Cord
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Articles related to Schwannomatosis 2:
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ClinVar genetic disease variations for Schwannomatosis 2:6 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Schwannomatosis 2:74 (show all 12)
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Search
GEO
for disease gene expression data for Schwannomatosis 2.
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