MCID: SCH088
MIFTS: 18

Schwannomatosis 2

Categories: Genetic diseases

Aliases & Classifications for Schwannomatosis 2

MalaCards integrated aliases for Schwannomatosis 2:

Name: Schwannomatosis 2 57 75 29 6 73
Swnts2 57 75
Schwannomatosis-2, Susceptibility to 57
Schwannomatosis, Type 2 40
Schwannomatosis-2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
schwannomatosis 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 57 615670
MeSH 44 D009442
UMLS 73 C3810283

Summaries for Schwannomatosis 2

OMIM : 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 swnts2. 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Schwannomatosis 2:

32
# Description HPO Frequency HPO Source Accession
1 spinal cord tumor 32 HP:0010302
2 schwannoma 32 HP:0100008

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

Anatomical Context for Schwannomatosis 2

MalaCards organs/tissues related to Schwannomatosis 2:

41
Spinal Cord

Publications for Schwannomatosis 2

Variations for Schwannomatosis 2

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

75
# Symbol AA change Variation ID SNP ID
1 LZTR1 p.Ser122Leu VAR_071145 rs587777177
2 LZTR1 p.Gly404Arg VAR_071146
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

ClinVar genetic disease variations for Schwannomatosis 2:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 LZTR1 NM_006767.3(LZTR1): c.264-13G> A single nucleotide variant Pathogenic rs587777176 GRCh37 Chromosome 22, 21340117: 21340117
2 LZTR1 NM_006767.3(LZTR1): c.264-13G> A single nucleotide variant Pathogenic rs587777176 GRCh38 Chromosome 22, 20985828: 20985828
3 LZTR1 NM_006767.3(LZTR1): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic rs587777177 GRCh37 Chromosome 22, 21341837: 21341837
4 LZTR1 NM_006767.3(LZTR1): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic rs587777177 GRCh38 Chromosome 22, 20987548: 20987548
5 LZTR1 NM_006767.3(LZTR1): c.2062C> T (p.Arg688Cys) single nucleotide variant Pathogenic rs587777178 GRCh37 Chromosome 22, 21350154: 21350154
6 LZTR1 NM_006767.3(LZTR1): c.2062C> T (p.Arg688Cys) single nucleotide variant Pathogenic rs587777178 GRCh38 Chromosome 22, 20995865: 20995865
7 LZTR1 NM_006767.3(LZTR1): c.2348_2351delCGCA (p.Thr783Argfs) deletion Pathogenic rs587777179 GRCh37 Chromosome 22, 21351197: 21351200
8 LZTR1 NM_006767.3(LZTR1): c.2348_2351delCGCA (p.Thr783Argfs) deletion Pathogenic rs587777179 GRCh38 Chromosome 22, 20996908: 20996911
9 LZTR1 NM_006767.3(LZTR1): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic rs587777180 GRCh37 Chromosome 22, 21348256: 21348256
10 LZTR1 NM_006767.3(LZTR1): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic rs587777180 GRCh38 Chromosome 22, 20993967: 20993967
11 LZTR1 NM_006767.3(LZTR1): c.27delG (p.Gln10Argfs) deletion Pathogenic rs587777613 GRCh37 Chromosome 22, 21336687: 21336687
12 LZTR1 NM_006767.3(LZTR1): c.27delG (p.Gln10Argfs) deletion Pathogenic rs587777613 GRCh38 Chromosome 22, 20982398: 20982398
13 LZTR1 NM_006767.3(LZTR1): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs189150283 GRCh38 Chromosome 22, 20992304: 20992304
14 LZTR1 NM_006767.3(LZTR1): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs189150283 GRCh37 Chromosome 22, 21346593: 21346593

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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