SWNTS1
MCID: SCH077
MIFTS: 33

Schwannomatosis 1 (SWNTS1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 58 76 30 6 74
Schwannomatosis, Somatic 58 30
Swnts1 58 76
Neurilemmomatosis, Congenital Cutaneous 58
Congenital Cutaneous Neurilemmomatosis 76
Schwannomatosis-1, Susceptibility to 58
Schwannomatosis, Type 1 41
Schwannomatosis-1 58
Schwannomatosis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
schwannomatosis 1:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



Summaries for Schwannomatosis 1

OMIM : 58 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, spinal cord and brain, and related phenotypes are meningioma and abnormality of the vertebral column

Genetics Home Reference : 26 Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder... more...

Related Diseases for Schwannomatosis 1

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



Diseases related to Schwannomatosis 1

Symptoms & Phenotypes for Schwannomatosis 1

Human phenotypes related to Schwannomatosis 1:

33
# Description HPO Frequency HPO Source Accession
1 meningioma 33 HP:0002858
2 abnormality of the vertebral column 33 HP:0000925
3 spinal cord tumor 33 HP:0010302
4 abnormality of the skin 33 HP:0000951
5 schwannoma 33 HP:0100008

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
schwannomas

Skin Nails Hair Skin:
schwannomas

Neoplasia:
meningiomas
multiple schwannomas

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

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

27
# 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

Drugs & Therapeutics for Schwannomatosis 1

Search Clinical Trials , NIH Clinical Center for Schwannomatosis 1

Genetic Tests for Schwannomatosis 1

Genetic tests related to Schwannomatosis 1:

# Genetic test Affiliating Genes
1 Schwannomatosis 1 30 NF2 SMARCB1
2 Schwannomatosis, Somatic 30

Anatomical Context for Schwannomatosis 1

MalaCards organs/tissues related to Schwannomatosis 1:

42
Skin, Spinal Cord, Brain

Publications for Schwannomatosis 1

Articles related to Schwannomatosis 1:

# Title Authors Year
1
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. ( 22038540 )
2012
2
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. ( 20930055 )
2011
3
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. ( 19582488 )
2010
4
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. ( 19124645 )
2009
5
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. ( 18072270 )
2008
6
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. ( 18285426 )
2008
7
Germline mutation of INI1/SMARCB1 in familial schwannomatosis. ( 17357086 )
2007
8
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. ( 9399891 )
1997
9
Neurofibromatosis 2 and neurilemmomatosis gene are identical. ( 7798645 )
1995

Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

6 (show top 50) (show all 85)
# 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 SMARCB1, 7-BP DEL, NT233 deletion Pathogenic
7 SMARCB1 NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs) indel Pathogenic rs587776679 GRCh38 Chromosome 22, 23791865: 23791878
8 SMARCB1 NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs74315513 GRCh37 Chromosome 22, 24129390: 24129390
9 SMARCB1 NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs74315513 GRCh38 Chromosome 22, 23787203: 23787203
10 SMARCB1 NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs) indel Pathogenic rs587776679 GRCh37 Chromosome 22, 24134052: 24134065
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.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
17 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
18 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh37 Chromosome 22, 24167504: 24167504
19 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh38 Chromosome 22, 23825317: 23825317
20 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh37 Chromosome 22, 24129150: 24176705
21 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh38 Chromosome 22, 23786963: 23834518
22 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh38 Chromosome 22, 23833572: 23834518
23 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh37 Chromosome 22, 24175759: 24176705
24 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh37 Chromosome 22, 24135882: 24135882
25 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh38 Chromosome 22, 23793695: 23793695
26 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
27 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh37 Chromosome 22, 24176449: 24176449
28 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh38 Chromosome 22, 23787013: 23787013
29 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh37 Chromosome 22, 24129200: 24129200
30 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh38 Chromosome 22, 23787022: 23787022
31 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh37 Chromosome 22, 24129209: 24129209
32 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh38 Chromosome 22, 23816864: 23816864
33 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh37 Chromosome 22, 24159051: 24159051
34 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dup duplication Uncertain significance rs779825754 GRCh38 Chromosome 22, 23834192: 23834194
35 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dup duplication Uncertain significance rs779825754 GRCh37 Chromosome 22, 24176379: 24176381
36 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh37 Chromosome 22, 24176480: 24176480
37 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh38 Chromosome 22, 23834293: 23834293
38 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh38 Chromosome 22, 23787021: 23787021
39 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh37 Chromosome 22, 24129208: 24129208
40 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh38 Chromosome 22, 23787153: 23787153
41 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh37 Chromosome 22, 24129340: 24129340
42 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh38 Chromosome 22, 23833568: 23833568
43 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh37 Chromosome 22, 24175755: 24175755
44 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh38 Chromosome 22, 23834459: 23834459
45 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh37 Chromosome 22, 24176646: 24176646
46 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh38 Chromosome 22, 23787063: 23787063
47 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh37 Chromosome 22, 24129250: 24129250
48 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh38 Chromosome 22, 23803401: 23803401
49 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh37 Chromosome 22, 24145588: 24145588
50 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh38 Chromosome 22, 23803435: 23803435

Expression for Schwannomatosis 1

Search GEO for disease gene expression data for Schwannomatosis 1.

Pathways for Schwannomatosis 1

GO Terms for Schwannomatosis 1

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

Sources for Schwannomatosis 1

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75 UMLS via Orphanet
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