MCID: SCH067
MIFTS: 19

Schwannomatosis-2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Schwannomatosis-2

MalaCards integrated aliases for Schwannomatosis-2:

Name: Schwannomatosis-2 54
Schwannomatosis 2 24 71 29 69
Swnts2 24 71

Characteristics:

OMIM:

54
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 54 615670
MeSH 42 D009442

Summaries for Schwannomatosis-2

OMIM : 54
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, and has symptoms including schwannoma and spinal cord tumor. An important gene associated with Schwannomatosis-2 is LZTR1 (Leucine Zipper Like Transcription Regulator 1). Affiliated tissues include spinal cord.

UniProtKB/Swiss-Prot : 71 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 family:

Schwannomatosis-2

Symptoms & Phenotypes for Schwannomatosis-2

Symptoms via clinical synopsis from OMIM:

54

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

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:

id Genetic test Affiliating Genes
1 Schwannomatosis 2 29 24 LZTR1

Anatomical Context for Schwannomatosis-2

MalaCards organs/tissues related to Schwannomatosis-2:

39
Spinal Cord

Publications for Schwannomatosis-2

Variations for Schwannomatosis-2

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

71
id 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
id 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.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic rs587777177 GRCh37 Chromosome 22, 21341837: 21341837
3 LZTR1 NM_006767.3(LZTR1): c.2062C> T (p.Arg688Cys) single nucleotide variant Pathogenic rs587777178 GRCh37 Chromosome 22, 21350154: 21350154
4 LZTR1 NM_006767.3(LZTR1): c.2348_2351delCGCA (p.Thr783Argfs) deletion Pathogenic rs587777179 GRCh37 Chromosome 22, 21351197: 21351200
5 LZTR1 NM_006767.3(LZTR1): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic rs587777180 GRCh37 Chromosome 22, 21348256: 21348256
6 LZTR1 NM_006767.3(LZTR1): c.27delG (p.Gln10Argfs) deletion Pathogenic rs587777613 GRCh37 Chromosome 22, 21336687: 21336687
7 LZTR1 NM_006767.3(LZTR1): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs189150283 GRCh38 Chromosome 22, 20992304: 20992304

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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