Schwannomatosis 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Schwannomatosis, Somatic ⁵⁷ ²⁹

Swnts1 ⁵⁷ ⁷⁵

Neurilemmomatosis, Congenital Cutaneous ⁵⁷

Congenital Cutaneous Neurilemmomatosis ⁷⁵

Schwannomatosis-1, Susceptibility to ⁵⁷

Schwannomatosis, Type 1 ⁴⁰

Schwannomatosis-1 ⁵⁷

Schwannomatosis ⁷³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

schwannomatosis 1:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course variable expressivity incomplete penetrance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 162091

MedGen ⁴² C4048809 C1335929

MeSH ⁴⁴ D009442

SNOMED-CT via HPO ⁶⁹ 263681008 199879009 95320005 more

UMLS ⁷³ C4048809

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Summaries for Schwannomatosis 1

OMIM : ⁵⁷ Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis II (NF2; 101000). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012). (162091)

MalaCards based summary : Schwannomatosis 1, also known as schwannomatosis, somatic, is related to neurilemmomatosis and schwannomatosis 2. An important gene associated with Schwannomatosis 1 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). Affiliated tissues include skin and spinal cord, and related phenotypes are meningioma and abnormality of the vertebral column

UniProtKB/Swiss-Prot : ⁷⁵ Schwannomatosis 1: A cancer 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 1

Diseases in the Schwannomatosis 1 family:

Schwannomatosis 2

Diseases related to Schwannomatosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	neurilemmomatosis	30.9	NF2 SMARCB1
2	schwannomatosis 2	11.0
3	monosomy 22	9.7	NF2 SMARCB1
4	rhabdoid meningioma	9.7	NF2 SMARCB1
5	tanycytic ependymoma	9.6	NF2 SMARCB1
6	small cell sarcoma	9.6	NF2 SMARCB1
7	cerebellopontine angle tumor	9.6	NF2 SMARCB1
8	neurilemmoma	9.6	NF2 SMARCB1
9	organ system benign neoplasm	9.5	NF2 SMARCB1
10	neuroma	9.5	NF2 SMARCB1
11	nervous system cancer	9.4	NF2 SMARCB1
12	malignant peripheral nerve sheath tumor	9.3	NF2 SMARCB1
13	meningioma, familial	9.2	NF2 SMARCB1
14	brain cancer	9.0	NF2 SMARCB1

Graphical network of the top 20 diseases related to Schwannomatosis 1:

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Symptoms & Phenotypes for Schwannomatosis 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Spine:
schwannomas

Skin Nails Hair Skin:
schwannomas

Neoplasia:
multiple schwannomas
meningiomas

Skeletal Limbs:
schwannomas

Neurologic Central Nervous System:
spinal tumors
absence of vestibular schwannomas at age greater than 18 years
meningiomas

Clinical features from OMIM:

162091

Human phenotypes related to Schwannomatosis 1:

³²

#	Description	HPO Source Accession
1	meningioma ³²	HP:0002858
2	abnormality of the vertebral column ³²	HP:0000925
3	spinal cord tumor ³²	HP:0010302
4	abnormality of the skin ³²	HP:0000951
5	schwannoma ³²	HP:0100008

GenomeRNAi Phenotypes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	9.5	SMARCB1
2	Decreased viability	GR00221-A-2	9.5	SMARCB1
3	Decreased viability	GR00221-A-3	9.5	NF2 SMARCB1
4	Decreased viability	GR00381-A-1	9.5	SMARCB1
5	Decreased viability	GR00402-S-2	9.5	NF2 SMARCB1
6	Increased proliferation	GR00094-A	8.62	NF2 SMARCB1

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Drugs & Therapeutics for Schwannomatosis 1

Search Clinical Trials , NIH Clinical Center for Schwannomatosis 1

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Genetic Tests for Schwannomatosis 1

Genetic tests related to Schwannomatosis 1:

#	Genetic test	Affiliating Genes
1	Schwannomatosis 1 ²⁹	NF2 SMARCB1
2	Schwannomatosis, Somatic ²⁹

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Anatomical Context for Schwannomatosis 1

MalaCards organs/tissues related to Schwannomatosis 1:

⁴¹

Skin, Spinal Cord

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Publications for Schwannomatosis 1

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Genes for Schwannomatosis 1

Genes related to Schwannomatosis 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	1077.27	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	17357086 29517885 18072270 (more) 18285426 19124645 19582488 20930055 22038540
2	NF2	Neurofibromin 2	Protein Coding	1026.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	7798645 29517885 9399891

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Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

⁶

(show all 17)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NF2	NC_000022.11: g.(29668447_29671826)_(29681601_?)del	deletion	Pathogenic		GRCh38	Chromosome 22, 29668447: 29681601
2	NF2	NM_000268.3(NF2): c.125_126insG (p.Gly43Argfs)	insertion	Pathogenic	rs587776564	GRCh37	Chromosome 22, 30032750: 30032751
3	NF2	NM_000268.3(NF2): c.125_126insG (p.Gly43Argfs)	insertion	Pathogenic	rs587776564	GRCh38	Chromosome 22, 29636761: 29636762
4	NF2	NM_000268.3(NF2): c.205_211delAAGGACA (p.Lys69Glnfs)	deletion	Pathogenic	rs587776565	GRCh37	Chromosome 22, 30032830: 30032836
5	NF2	NM_000268.3(NF2): c.205_211delAAGGACA (p.Lys69Glnfs)	deletion	Pathogenic	rs587776565	GRCh38	Chromosome 22, 29636841: 29636847
6	SMARCB1	NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter)	single nucleotide variant	Pathogenic	rs74315513	GRCh37	Chromosome 22, 24129390: 24129390
7	SMARCB1	NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter)	single nucleotide variant	Pathogenic	rs74315513	GRCh38	Chromosome 22, 23787203: 23787203
8	SMARCB1	NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs)	indel	Pathogenic	rs587776679	GRCh37	Chromosome 22, 24134052: 24134065
9	SMARCB1	NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs)	indel	Pathogenic	rs587776679	GRCh38	Chromosome 22, 23791865: 23791878
10	SMARCB1	SMARCB1, 7-BP DEL, NT233	deletion	Pathogenic
11	SMARCB1	NM_003073.4(SMARCB1): c.629-361_795+2103dup	duplication	Pathogenic		GRCh38	Chromosome 22, 23816409: 23819039
12	SMARCB1	NM_003073.4(SMARCB1): c.92A> T (p.Glu31Val)	single nucleotide variant	Pathogenic	rs267607072	GRCh37	Chromosome 22, 24129448: 24129448
13	SMARCB1	NM_003073.4(SMARCB1): c.92A> T (p.Glu31Val)	single nucleotide variant	Pathogenic	rs267607072	GRCh38	Chromosome 22, 23787261: 23787261
14	SMARCB1	NM_003073.4(SMARCB1): c.143C> T (p.Pro48Leu)	single nucleotide variant	Pathogenic	rs387906811	GRCh37	Chromosome 22, 24133992: 24133992
15	SMARCB1	NM_003073.4(SMARCB1): c.143C> T (p.Pro48Leu)	single nucleotide variant	Pathogenic	rs387906811	GRCh38	Chromosome 22, 23791805: 23791805
16	SMARCB1	NM_003073.4(SMARCB1): c.*82C> T	single nucleotide variant	Pathogenic	rs878854600	GRCh38	Chromosome 22, 23834262: 23834262
17	SMARCB1	NM_003073.4(SMARCB1): c.*82C> T	single nucleotide variant	Pathogenic	rs878854600	GRCh37	Chromosome 22, 24176449: 24176449

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Expression for Schwannomatosis 1

Search GEO for disease gene expression data for Schwannomatosis 1.

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Pathways for Schwannomatosis 1

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GO Terms for Schwannomatosis 1

Cellular components related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleolus	GO:0005730	8.62	NF2 SMARCB1

Biological processes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	8.62	NF2 SMARCB1

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Sources for Schwannomatosis 1

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⁷⁶ Wikipedia