SWNTS1
MCID: SCH077
MIFTS: 38

Schwannomatosis 1 (SWNTS1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 56 73 29 6 71
Schwannomatosis-1, Susceptibility to 56 29
Schwannomatosis, Somatic 56 29
Swnts1 56 73
Neurilemmomatosis, Congenital Cutaneous 56
Congenital Cutaneous Neurilemmomatosis 73
Schwannomatosis, Type 1 39
Schwannomatosis-1 56
Schwannomatosis 71

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance
germline and somatic mutations contribute to this disorder

Inheritance:
autosomal dominant


HPO:

31
schwannomatosis 1:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 56 162091
OMIM Phenotypic Series 56 PS162091
MeSH 43 D009442
UMLS 71 C1335929 C4048809

Summaries for Schwannomatosis 1

OMIM : 56 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-1, susceptibility to, is related to neurilemmomatosis and acoustic neuroma. An important gene associated with Schwannomatosis 1 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). The drugs Tanezumab and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and brain, and related phenotypes are abnormality of the vertebral column and meningioma

UniProtKB/Swiss-Prot : 73 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 : 74 Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder... more...

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 34)
# Related Disease Score Top Affiliating Genes
1 neurilemmomatosis 31.5 SMARCB1 NF2
2 acoustic neuroma 29.5 SMARCB1 NF2
3 schwannomatosis 2 11.3
4 monosomy 22 9.8 SMARCB1 NF2
5 cerebral falx meningioma 9.8 SMARCB1 NF2
6 peripheral nerve schwannoma 9.8 SMARCB1 NF2
7 anterior cranial fossa meningioma 9.8 SMARCB1 NF2
8 optic nerve sheath meningioma 9.8 SMARCB1 NF2
9 melanotic neurilemmoma 9.8 SMARCB1 NF2
10 neurilemmoma 9.8 SMARCB1 NF2
11 optic nerve neoplasm 9.8 SMARCB1 NF2
12 spinal canal and spinal cord meningioma 9.8 SMARCB1 NF2
13 spinal meningioma 9.7 SMARCB1 NF2
14 rhabdoid meningioma 9.7 SMARCB1 NF2
15 schwannoma of twelfth cranial nerve 9.7 SMARCB1 NF2
16 hypoglossal nerve disease 9.7 SMARCB1 NF2
17 corpus callosum lipoma 9.7 SMARCB1 NF2
18 cerebral hemisphere lipoma 9.7 SMARCB1 NF2
19 clear cell meningioma 9.7 SMARCB1 NF2
20 cranial nerve neoplasm 9.7 SMARCB1 NF2
21 spinal cancer 9.7 SMARCB1 NF2
22 cerebral ventricle cancer 9.7 SMARCB1 NF2
23 cerebrum cancer 9.7 SMARCB1 NF2
24 supratentorial cancer 9.7 SMARCB1 NF2
25 meningioma, radiation-induced 9.7 SMARCB1 NF2
26 neuroma 9.6 SMARCB1 NF2
27 neurofibromatosis, type iv, of riccardi 9.6 SMARCB1 NF2
28 malignant peripheral nerve sheath tumor 9.6 SMARCB1 NF2
29 central nervous system cancer 9.6 SMARCB1 NF2
30 renal cell carcinoma, papillary, 1 9.6 SMARCB1 NF2
31 meningioma, familial 9.5 SMARCB1 NF2
32 gastrointestinal stromal tumor 9.5 SMARCB1 NF2
33 brain cancer 9.4 SMARCB1 NF2
34 sarcoma 9.2 SMARCB1 NF2

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the vertebral column 31 HP:0000925
2 meningioma 31 HP:0002858
3 spinal cord tumor 31 HP:0010302
4 abnormality of the skin 31 HP:0000951
5 schwannoma 31 HP:0100008

Symptoms via clinical synopsis from OMIM:

56
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:

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

Drugs & Therapeutics for Schwannomatosis 1

Drugs for Schwannomatosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tanezumab Investigational Phase 2 880266-57-9
2 Immunologic Factors Phase 1, Phase 2
3 Immunoglobulins Phase 2
4 Mitogens Phase 2
5 Antibodies Phase 2
6 Analgesics Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
2 A Phase 2 Randomized, Double-blind, Placebo-Controlled Study of the Analgesic Efficacy and Safety of the Subcutaneous Administration of the Anti-NGF Antibody Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis Not yet recruiting NCT04163419 Phase 2 Tanezumab;Placebo
3 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis Completed NCT02435628
4 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
5 Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis Completed NCT01776125
6 Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation Recruiting NCT01885767

Search NIH Clinical Center for Schwannomatosis 1

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
3 Schwannomatosis-1, Susceptibility to 29

Anatomical Context for Schwannomatosis 1

MalaCards organs/tissues related to Schwannomatosis 1:

40
Spinal Cord, Skin, Brain

Publications for Schwannomatosis 1

Articles related to Schwannomatosis 1:

(show all 24)
# Title Authors PMID Year
1
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. 54 56 6
18285426 2008
2
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. 54 56 6
9399891 1997
3
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 56 6
22038540 2012
4
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 56 6
20930055 2011
5
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 56 6
19582488 2010
6
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 56 6
19124645 2009
7
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 56 6
18072270 2008
8
Germline mutation of INI1/SMARCB1 in familial schwannomatosis. 56 6
17357086 2007
9
Neurofibromatosis 2 and neurilemmomatosis gene are identical. 56 6
7798645 1995
10
Schwannomatosis 6
29517885 2018
11
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. 56
16287142 2005
12
Familial schwannomatosis: exclusion of the NF2 locus as the germline event. 56
12821741 2003
13
Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. 56
9120449 1997
14
Schwannomatosis: a clinical and pathologic study. 56
8780094 1996
15
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. 56
7747758 1994
16
Neurofibromatosis 2 in the pediatric age group. 56
8355853 1993
17
A clinical study of type 2 neurofibromatosis. 56
1484939 1992
18
Congenital neurilemmomatosis. 56
1583187 1992
19
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
28365909 2017
20
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. 61
27958595 2016
21
Epithelioid Schwannomas: An Analysis of 58 Cases Including Atypical Variants. 61
26752543 2016
22
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. 61
26706012 2015
23
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. 54
16078050 2005
24
Somatic instability of the NF2 gene in schwannomatosis. 54
12975302 2003

Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF2 NC_000022.11:g.(29668447_29671826)_(29681601_?)deldeletion Pathogenic 3298 22:29668447-29681601
2 NF2 NM_016418.5(NF2):c.125_126insG (p.Gly43fs)insertion Pathogenic 3299 rs587776564 22:30032750-30032751 22:29636761-29636762
3 NF2 NM_016418.5(NF2):c.205_211del (p.Lys69fs)deletion Pathogenic 3300 rs587776565 22:30032830-30032836 22:29636841-29636847
4 SMARCB1 NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)SNV Pathogenic 8026 rs74315513 22:24129390-24129390 22:23787203-23787203
5 SMARCB1 NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)indel Pathogenic 8028 rs587776679 22:24134052-24134065 22:23791865-23791878
6 SMARCB1 SMARCB1, 7-BP DEL, NT233deletion Pathogenic 8029
7 SMARCB1 NM_003073.4(SMARCB1):c.629-361_795+2103dupduplication Pathogenic 8030 22:23816409-23819039
8 SMARCB1 NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)SNV Pathogenic 8031 rs267607072 22:24129448-24129448 22:23787261-23787261
9 SMARCB1 NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)SNV Pathogenic 30202 rs387906811 22:24133992-24133992 22:23791805-23791805
10 SMARCB1 NM_003073.5(SMARCB1):c.*82C>TSNV Pathogenic 239481 rs878854600 22:24176449-24176449 22:23834262-23834262
11 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)deletion Pathogenic 410704 rs1060503017 22:24167585-24167592 22:23825398-23825405
12 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)SNV Pathogenic 410703 rs1060503016 22:24134001-24134001 22:23791814-23791814
13 SMARCB1 NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)SNV Conflicting interpretations of pathogenicity 410706 rs779769475 22:24134007-24134007 22:23791820-23791820
14 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)SNV Conflicting interpretations of pathogenicity 340914 rs752910574 22:24159051-24159051 22:23816864-23816864
15 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dupduplication Uncertain significance 340916 rs779825754 22:24176376-24176377 22:23834189-23834190
16 SMARCB1 NM_003073.5(SMARCB1):c.*113C>TSNV Uncertain significance 340920 rs886057286 22:24176480-24176480 22:23834293-23834293
17 SMARCB1 NM_003073.5(SMARCB1):c.-149C>TSNV Uncertain significance 340906 rs886057282 22:24129208-24129208 22:23787021-23787021
18 SMARCB1 NM_003073.5(SMARCB1):c.-17C>TSNV Uncertain significance 340911 rs372777519 22:24129340-24129340 22:23787153-23787153
19 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>CSNV Uncertain significance 340915 rs745773662 22:24175755-24175755 22:23833568-23833568
20 SMARCB1 NM_003073.5(SMARCB1):c.*279G>ASNV Uncertain significance 340921 rs886057287 22:24176646-24176646 22:23834459-23834459
21 SMARCB1 NM_003073.5(SMARCB1):c.-107A>GSNV Uncertain significance 340910 rs886057284 22:24129250-24129250 22:23787063-23787063
22 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)SNV Uncertain significance 340912 rs762962010 22:24145588-24145588 22:23803401-23803401
23 SMARCB1 NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)SNV Uncertain significance 198489 rs769322487 22:24167504-24167504 22:23825317-23825317
24 SMARCB1 NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu)SNV Uncertain significance 410701 rs887245809 22:24159118-24159118 22:23816931-23816931
25 SMARCB1 NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val)SNV Uncertain significance 410708 rs1060503019 22:24159041-24159041 22:23816854-23816854
26 NF2 NM_016418.5(NF2):c.1701C>G (p.Asp567Glu)SNV Uncertain significance 457904 rs1049732514 22:30077554-30077554 22:29681565-29681565
27 NF2 NM_016418.5(NF2):c.1232G>A (p.Arg411His)SNV Uncertain significance 527695 rs201214090 22:30069367-30069367 22:29673378-29673378
28 NF2 NM_016418.5(NF2):c.215T>C (p.Val72Ala)SNV Uncertain significance 569354 rs1260510937 22:30032840-30032840 22:29636851-29636851
29 NF2 NM_016418.5(NF2):c.1619A>G (p.Asn540Ser)SNV Uncertain significance 565467 rs774824164 22:30077472-30077472 22:29681483-29681483
30 NF2 NM_016418.5(NF2):c.4G>T (p.Ala2Ser)SNV Uncertain significance 638486 22:29999991-29999991 22:29604002-29604002
31 SMARCB1 NM_003073.5(SMARCB1):c.-157G>ASNV Uncertain significance 340905 rs886057281 22:24129200-24129200 22:23787013-23787013
32 SMARCB1 NM_003073.5(SMARCB1):c.-148T>CSNV Uncertain significance 340907 rs886057283 22:24129209-24129209 22:23787022-23787022
33 SMARCB1 NM_003073.4(SMARCB1):c.-207-?_*338dup1703duplication Uncertain significance 239480 22:24129150-24176705 22:23786963-23834518
34 SMARCB1 NM_003073.4(SMARCB1):c.987-?_*338dup510duplication Uncertain significance 239486 22:24175759-24176705 22:23833572-23834518
35 SMARCB1 NM_003073.5(SMARCB1):c.*293C>TSNV Likely benign 340922 rs754865420 22:24176660-24176660 22:23834473-23834473
36 SMARCB1 NM_003073.5(SMARCB1):c.-115C>TSNV Likely benign 340909 rs551328283 22:24129242-24129242 22:23787055-23787055
37 SMARCB1 NM_003073.5(SMARCB1):c.*15C>ASNV Likely benign 340917 rs369400289 22:24176382-24176382 22:23834195-23834195
38 SMARCB1 NM_003073.5(SMARCB1):c.628+13C>TSNV Likely benign 340913 rs184021903 22:24145622-24145622 22:23803435-23803435
39 SMARCB1 NM_003073.5(SMARCB1):c.*17C>TSNV Likely benign 340918 rs372348692 22:24176384-24176384 22:23834197-23834197
40 SMARCB1 NM_003073.5(SMARCB1):c.362+7C>TSNV Benign/Likely benign 239483 rs34746244 22:24135882-24135882 22:23793695-23793695
41 SMARCB1 NM_003073.5(SMARCB1):c.-117C>TSNV Benign 340908 rs11090285 22:24129240-24129240 22:23787053-23787053
42 SMARCB1 NM_003073.5(SMARCB1):c.*116dupduplication Benign 340919 rs397897183 22:24176480-24176481 22:23834293-23834294
43 SMARCB1 NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)SNV Benign 126368 rs2229354 22:24167513-24167513 22:23825326-23825326

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 SMARCB1 NF2

Sources for Schwannomatosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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