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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 615670

OMIM Phenotypic Series ⁵⁶ PS162091

MeSH ⁴³ D009442

MedGen ⁴¹ C3810283 CN185295

SNOMED-CT via HPO ⁶⁸ 126962006 263681008 404022001 more

UMLS ⁷¹ C3810283

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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.

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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:

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

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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:

⁴⁰

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. ⁵⁶ ⁶	Piotrowski A...Messiaen LM	24362817	2014
2	Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. ⁶	Steklov M...Sablina AA	30442762	2018
3	Schwannomatosis ⁶	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. ⁶¹	Caltabiano R...Ruggieri M	28365909	2017
5	Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. ⁶¹	Ruggieri M...Evans DG	27958595	2016
6	Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. ⁶¹	Ruggieri M...Evans DG	26706012	2015
7	Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. ⁶¹	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	1368.41	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	29517885 30442762 24362817

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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>A	SNV	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+1del	deletion	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

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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

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⁷⁴ 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