SWNTS2
MCID: SCH088
MIFTS: 23

Schwannomatosis 2 (SWNTS2)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Schwannomatosis 2

MalaCards integrated aliases for Schwannomatosis 2:

Name: Schwannomatosis 2 56 73 29 6 71
Schwannomatosis-2, Susceptibility to 56 29
Swnts2 56 73
Schwannomatosis, Type 2 39
Schwannomatosis-2 56

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance
germline and somatic mutations contribute to this disorder

Inheritance:
autosomal dominant


HPO:

31
schwannomatosis 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 56 615670
OMIM Phenotypic Series 56 PS162091
MeSH 43 D009442
UMLS 71 C3810283

Summaries for Schwannomatosis 2

OMIM : 56 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 : 73 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.

Related Diseases for Schwannomatosis 2

Diseases in the Schwannomatosis 1 family:

Schwannomatosis 2

Symptoms & Phenotypes for Schwannomatosis 2

Human phenotypes related to Schwannomatosis 2:

31
# Description HPO Frequency HPO Source Accession
1 spinal cord tumor 31 HP:0010302
2 schwannoma 31 HP:0100008

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
schwannomas

Skin Nails Hair Skin:
schwannomas

Neoplasia:
multiple schwannomas

Skeletal Limbs:
schwannomas

Neurologic Central Nervous System:
spinal tumors

Clinical features from OMIM:

615670

Drugs & Therapeutics for Schwannomatosis 2

Search Clinical Trials , NIH Clinical Center for Schwannomatosis 2

Genetic Tests for Schwannomatosis 2

Genetic tests related to Schwannomatosis 2:

# Genetic test Affiliating Genes
1 Schwannomatosis 2 29 LZTR1
2 Schwannomatosis-2, Susceptibility to 29

Anatomical Context for Schwannomatosis 2

MalaCards organs/tissues related to Schwannomatosis 2:

40
Spinal Cord

Publications for Schwannomatosis 2

Articles related to Schwannomatosis 2:

# Title Authors PMID Year
1
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 56 6
24362817 2014
2
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 6
30442762 2018
3
Schwannomatosis 6
29517885 2018
4
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. 61
28365909 2017
5
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. 61
27958595 2016
6
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. 61
26706012 2015
7
Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. 61
10636128 2000

Variations for Schwannomatosis 2

ClinVar genetic disease variations for Schwannomatosis 2:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LZTR1 NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)SNV Pathogenic 209089 rs797045165 22:21345975-21345975 22:20991686-20991686
2 LZTR1 NM_006767.4(LZTR1):c.264-13G>ASNV Pathogenic 101034 rs587777176 22:21340117-21340117 22:20985828-20985828
3 LZTR1 NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)SNV Pathogenic 101035 rs587777177 22:21341837-21341837 22:20987548-20987548
4 LZTR1 NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)SNV Pathogenic 101036 rs587777178 22:21350154-21350154 22:20995865-20995865
5 LZTR1 NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)deletion Pathogenic 101037 rs587777179 22:21351196-21351199 22:20996907-20996910
6 LZTR1 NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)SNV Pathogenic 101038 rs587777180 22:21348256-21348256 22:20993967-20993967
7 LZTR1 NM_006767.4(LZTR1):c.27del (p.Gln10fs)deletion Pathogenic 143931 rs587777613 22:21336681-21336681 22:20982392-20982392
8 LZTR1 NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)SNV Pathogenic 289969 rs189150283 22:21346593-21346593 22:20992304-20992304
9 LZTR1 NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)SNV Pathogenic 634828 rs1569154722 22:21342384-21342384 22:20988095-20988095
10 LZTR1 NM_006767.4(LZTR1):c.320+1deldeletion Pathogenic 634827 rs1569153870 22:21340186-21340186 22:20985897-20985897
11 LZTR1 NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)SNV Pathogenic/Likely pathogenic 209088 rs869320686 22:21344765-21344765 22:20990476-20990476
12 LZTR1 NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro)SNV Uncertain significance 634826 rs752239353 22:21351585-21351585 22:20997296-20997296
13 LZTR1 NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)SNV Uncertain significance 373089 rs747430075 22:21347167-21347167 22:20992878-20992878
14 LZTR1 NM_006767.4(LZTR1):c.1559C>T (p.Pro520Leu)SNV Uncertain significance 561511 rs1569157089 22:21348502-21348502 22:20994213-20994213

UniProtKB/Swiss-Prot genetic disease variations for Schwannomatosis 2:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 LZTR1 p.Ser122Leu VAR_071145 rs587777177
2 LZTR1 p.Gly404Arg VAR_071146 rs147044916
3 LZTR1 p.Val456Gly VAR_071147
4 LZTR1 p.Arg466Gln VAR_071148 rs587777180
5 LZTR1 p.Pro520Leu VAR_071149
6 LZTR1 p.Arg688Cys VAR_071150 rs587777178
7 LZTR1 p.Ser813Ile VAR_071151
8 LZTR1 p.Arg284Cys VAR_075660 rs797045165
9 LZTR1 p.Arg170Gln VAR_081298 rs781431741
10 LZTR1 p.Leu187Arg VAR_081300
11 LZTR1 p.Met202Arg VAR_081302
12 LZTR1 p.Leu812Pro VAR_081332 rs773059569

Expression for Schwannomatosis 2

Search GEO for disease gene expression data for Schwannomatosis 2.

Pathways for Schwannomatosis 2

GO Terms for Schwannomatosis 2

Sources for Schwannomatosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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