Schwannomatosis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615670

MedGen ⁴² C3810283 CN185295

MeSH ⁴⁴ D009442

SNOMED-CT via HPO ⁶⁹ 263681008 126962006 404022001 more

UMLS ⁷³ C3810283

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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.

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Related Diseases for Schwannomatosis 2

Diseases in the Schwannomatosis 1 family:

Schwannomatosis 2

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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

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Drugs & Therapeutics for Schwannomatosis 2

Search Clinical Trials , NIH Clinical Center for Schwannomatosis 2

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Genetic Tests for Schwannomatosis 2

Genetic tests related to Schwannomatosis 2:

#	Genetic test	Affiliating Genes
1	Schwannomatosis 2 ²⁹	LZTR1

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Anatomical Context for Schwannomatosis 2

MalaCards organs/tissues related to Schwannomatosis 2:

⁴¹

Spinal Cord

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Publications for Schwannomatosis 2

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Genes for Schwannomatosis 2

Genes related to Schwannomatosis 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	1377.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	24362817 29517885

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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

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Expression for Schwannomatosis 2

Search GEO for disease gene expression data for Schwannomatosis 2.

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Pathways for Schwannomatosis 2

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GO Terms for Schwannomatosis 2

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Sources for Schwannomatosis 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

MCID: SCH088 MIFTS: 18	Schwannomatosis 2 Categories: Genetic diseases
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