Details of Disease

General Information of Disease (ID: DISFDUF2)

Disease Name Schwannomatosis 1
Synonyms schwannomatosis-1, susceptibility to; SCHWANNOMATOSIS 1; neurilemmomatosis, congenital cutaneous; SWNTS1; schwannomatosis, somatic
Disease Hierarchy
DISDWAM1: Schwannomatosis
DISFDUF2: Schwannomatosis 1
Disease Identifiers
MONDO ID
MONDO_0024517
MESH ID
C536641
UMLS CUI
C4048809
OMIM ID
162091
MedGen ID
887689

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NF2 TTZIK7P Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COQ6 OTZWW1FX Limited Autosomal dominant [2]
LZTR1 OTIDM6XO Strong Biomarker [3]
SMARCB1 OT2LP7LJ Strong Autosomal dominant [2]
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References

1 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.