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 ⁷⁴ ²⁹ ⁶ ⁷²

Schwannomatosis-2, Susceptibility to ⁵⁷ ²⁹

Swnts2 ⁵⁷ ⁷⁴

Schwannomatosis, Type 2 ⁴⁰

Schwannomatosis-2 ⁵⁷

Characteristics:

OMIM:

⁵⁷

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

Inheritance:
autosomal dominant

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615670 PS162091

MeSH ⁴⁴ D009442

MedGen ⁴² C3810283 CN185295

UMLS ⁷² 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 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 : ⁷⁴ 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

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

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

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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
2	Schwannomatosis-2, Susceptibility to ²⁹

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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

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. ⁸ ⁷¹	Piotrowski A...Messiaen LM	24362817	2014
2	Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. ⁷¹	Steklov M...Sablina AA	30442762	2018
3	Schwannomatosis ⁷¹	Dhamija R...Babovic-Vuksanovic D	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. ³⁸	Caltabiano R...Ruggieri M	28365909	2017
5	Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. ³⁸	Ruggieri M...Evans DG	27958595	2016
6	Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. ³⁸	Ruggieri M...Evans DG	26706012	2015
7	Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. ³⁸	Antinheimo J...Jaaskelainen J	10636128	2000

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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	1378.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	24362817 30442762 29517885

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Variations for Schwannomatosis 2

ClinVar genetic disease variations for Schwannomatosis 2:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	LZTR1	NM_006767.4(LZTR1): c.264-13G> A	single nucleotide variant	Pathogenic	rs587777176	22:21340117-21340117	22:20985828-20985828
2	LZTR1	NM_006767.4(LZTR1): c.365C> T (p.Ser122Leu)	single nucleotide variant	Pathogenic	rs587777177	22:21341837-21341837	22:20987548-20987548
3	LZTR1	NM_006767.4(LZTR1): c.2062C> T (p.Arg688Cys)	single nucleotide variant	Pathogenic	rs587777178	22:21350154-21350154	22:20995865-20995865
4	LZTR1	NM_006767.4(LZTR1): c.2348_2351del (p.Thr783fs)	deletion	Pathogenic	rs587777179	22:21351197-21351200	22:20996908-20996911
5	LZTR1	NM_006767.4(LZTR1): c.1397G> A (p.Arg466Gln)	single nucleotide variant	Pathogenic	rs587777180	22:21348256-21348256	22:20993967-20993967
6	LZTR1	NM_006767.4(LZTR1): c.27del (p.Gln10fs)	deletion	Pathogenic	rs587777613	22:21336687-21336687	22:20982398-20982398
7	LZTR1	NM_006767.4(LZTR1): c.850C> T (p.Arg284Cys)	single nucleotide variant	Pathogenic	rs797045165	22:21345975-21345975	22:20991686-20991686
8	LZTR1	NM_006767.4(LZTR1): c.1084C> T (p.Arg362Ter)	single nucleotide variant	Pathogenic	rs189150283	22:21346593-21346593	22:20992304-20992304
9	LZTR1	NM_006767.4(LZTR1): c.486G> A (p.Trp162Ter)	single nucleotide variant	Pathogenic		22:21342384-21342384	22:20988095-20988095
10	LZTR1	NM_006767.4(LZTR1): c.320del (p.Ala108Profs)	deletion	Pathogenic		22:21340186-21340186	22:20985897-20985897
11	LZTR1	NM_006767.4(LZTR1): c.742G> A (p.Gly248Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs869320686	22:21344765-21344765	22:20990476-20990476
12	LZTR1	NM_006767.4(LZTR1): c.2471T> C (p.Leu824Pro)	single nucleotide variant	Uncertain significance	rs752239353	22:21351585-21351585	22:20997296-20997296
13	LZTR1	NM_006767.4(LZTR1): c.1559C> T (p.Pro520Leu)	single nucleotide variant	Uncertain significance		22:21348502-21348502	22:20994213-20994213
14	LZTR1	NM_006767.4(LZTR1): c.1234C> T (p.Arg412Cys)	single nucleotide variant	Uncertain significance	rs747430075	22:21347167-21347167	22:20992878-20992878

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

⁷⁴ (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
10	LZTR1	p.Leu187Arg	VAR_081300
11	LZTR1	p.Met202Arg	VAR_081302
12	LZTR1	p.Leu812Pro	VAR_081332	rs773059569

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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

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

SWNTS2 MCID: SCH088 MIFTS: 23	Schwannomatosis 2 (SWNTS2) Categories: Cancer diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Schwannomatosis 2 (SWNTS2)

Aliases & Classifications for Schwannomatosis 2

MalaCards integrated aliases for Schwannomatosis 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Schwannomatosis 2

Related Diseases for Schwannomatosis 2

Diseases in the Schwannomatosis 1 family:

Symptoms & Phenotypes for Schwannomatosis 2

Human phenotypes related to Schwannomatosis 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Schwannomatosis 2

Genetic Tests for Schwannomatosis 2

Genetic tests related to Schwannomatosis 2:

Anatomical Context for Schwannomatosis 2

MalaCards organs/tissues related to Schwannomatosis 2:

Publications for Schwannomatosis 2

Articles related to Schwannomatosis 2:

Genes for Schwannomatosis 2

Genes related to Schwannomatosis 2 (1 elite genes):

Variations for Schwannomatosis 2

ClinVar genetic disease variations for Schwannomatosis 2:

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

Expression for Schwannomatosis 2

Pathways for Schwannomatosis 2

GO Terms for Schwannomatosis 2

Sources for Schwannomatosis 2