SWNTS1
MCID: SCH077
MIFTS: 37

Schwannomatosis 1 (SWNTS1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 57 74 29 6 72
Schwannomatosis-1, Susceptibility to 57 29
Schwannomatosis, Somatic 57 29
Swnts1 57 74
Neurilemmomatosis, Congenital Cutaneous 57
Congenital Cutaneous Neurilemmomatosis 74
Schwannomatosis, Type 1 40
Schwannomatosis-1 57
Schwannomatosis 72

Characteristics:

OMIM:

57
Miscellaneous:
variable expressivity
incomplete penetrance
germline and somatic mutations contribute to this disorder

Inheritance:
autosomal dominant


HPO:

32
schwannomatosis 1:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

MeSH 44 D009442
UMLS 72 C1335929 C4048809

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-1, susceptibility to, 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 abnormality of the vertebral column and meningioma

UniProtKB/Swiss-Prot : 74 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 : 75 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:

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

Symptoms via clinical synopsis from OMIM:

57
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
3 Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis Completed NCT01776125
4 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:

41
Skin, Spinal Cord

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. 9 8 71
18285426 2008
2
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. 9 8 71
9399891 1997
3
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 8 71
22038540 2012
4
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 8 71
20930055 2011
5
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 8 71
19582488 2010
6
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 8 71
19124645 2009
7
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 8 71
18072270 2008
8
Germline mutation of INI1/SMARCB1 in familial schwannomatosis. 8 71
17357086 2007
9
Neurofibromatosis 2 and neurilemmomatosis gene are identical. 8 71
7798645 1995
10
Schwannomatosis 71
29517885 2018
11
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. 8
16287142 2005
12
Familial schwannomatosis: exclusion of the NF2 locus as the germline event. 8
12821741 2003
13
Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. 8
9120449 1997
14
Schwannomatosis: a clinical and pathologic study. 8
8780094 1996
15
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. 8
7747758 1994
16
Neurofibromatosis 2 in the pediatric age group. 8
8355853 1993
17
A clinical study of type 2 neurofibromatosis. 8
1484939 1992
18
Congenital neurilemmomatosis. 8
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. 38
28365909 2017
20
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. 38
27958595 2016
21
Epithelioid Schwannomas: An Analysis of 58 Cases Including Atypical Variants. 38
26752543 2016
22
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. 38
26706012 2015
23
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. 9
16078050 2005
24
Somatic instability of the NF2 gene in schwannomatosis. 9
12975302 2003

Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

6 (show all 44)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMARCB1 NM_003073.5(SMARCB1): c.152G> A (p.Trp51Ter) single nucleotide variant Pathogenic rs1060503016 22:24134001-24134001 22:23791814-23791814
2 NF2 NC_000022.11: g.(29668447_29671826)_(29681601_?)del deletion Pathogenic
3 NF2 NM_000268.3(NF2): c.125_126insG (p.Gly43fs) insertion Pathogenic rs587776564 22:30032750-30032751 22:29636761-29636762
4 NF2 NM_000268.3(NF2): c.205_211del (p.Lys69fs) deletion Pathogenic rs587776565 22:30032830-30032836 22:29636841-29636847
5 SMARCB1 NM_003073.5(SMARCB1): c.92A> T (p.Glu31Val) single nucleotide variant Pathogenic rs267607072 22:24129448-24129448 22:23787261-23787261
6 SMARCB1 NM_003073.5(SMARCB1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs74315513 22:24129390-24129390 22:23787203-23787203
7 SMARCB1 NM_003073.5(SMARCB1): c.203_216delinsTACC (p.His68fs) indel Pathogenic rs587776679 22:24134052-24134065 22:23791865-23791878
8 SMARCB1 SMARCB1, 7-BP DEL, NT233 deletion Pathogenic
9 SMARCB1 NM_003073.4(SMARCB1): c.629-361_795+2103dup duplication Pathogenic
10 SMARCB1 NM_003073.5(SMARCB1): c.143C> T (p.Pro48Leu) single nucleotide variant Pathogenic rs387906811 22:24133992-24133992 22:23791805-23791805
11 SMARCB1 NM_003073.5(SMARCB1): c.969_976del (p.Lys324fs) deletion Pathogenic rs1060503017 22:24167585-24167592 22:23825398-23825405
12 SMARCB1 NM_003073.5(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 22:24176449-24176449 22:23834262-23834262
13 SMARCB1 NM_003073.5(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 22:24159051-24159051 22:23816864-23816864
14 SMARCB1 NM_003073.5(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 22:24134007-24134007 22:23791820-23791820
15 SMARCB1 NM_003073.5(SMARCB1): c.*12_*14dup duplication Uncertain significance rs779825754 22:24176379-24176381 22:23834192-23834194
16 SMARCB1 NM_003073.5(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 22:24176480-24176480 22:23834293-23834293
17 NF2 NM_000268.3(NF2): c.215T> C (p.Val72Ala) single nucleotide variant Uncertain significance 22:30032840-30032840 22:29636851-29636851
18 NF2 NM_000268.3(NF2): c.1619A> G (p.Asn540Ser) single nucleotide variant Uncertain significance 22:30077472-30077472 22:29681483-29681483
19 NF2 NM_000268.3(NF2): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance 22:29999991-29999991 22:29604002-29604002
20 SMARCB1 NM_003073.5(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 22:24129200-24129200 22:23787013-23787013
21 SMARCB1 NM_003073.5(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 22:24129209-24129209 22:23787022-23787022
22 SMARCB1 NM_003073.5(SMARCB1): c.790A> C (p.Ile264Leu) single nucleotide variant Uncertain significance rs887245809 22:24159118-24159118 22:23816931-23816931
23 SMARCB1 NM_003073.5(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 22:24167504-24167504 22:23825317-23825317
24 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance 22:24129150-24176705 22:23786963-23834518
25 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance 22:24175759-24176705 22:23833572-23834518
26 SMARCB1 NM_003073.5(SMARCB1): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs1060503019 22:24159041-24159041 22:23816854-23816854
27 NF2 NM_000268.3(NF2): c.1701C> G (p.Asp567Glu) single nucleotide variant Uncertain significance rs1049732514 22:30077554-30077554 22:29681565-29681565
28 NF2 NM_000268.3(NF2): c.1232G> A (p.Arg411His) single nucleotide variant Uncertain significance rs201214090 22:30069367-30069367 22:29673378-29673378
29 SMARCB1 NM_003073.5(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 22:24129208-24129208 22:23787021-23787021
30 SMARCB1 NM_003073.5(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 22:24129340-24129340 22:23787153-23787153
31 SMARCB1 NM_003073.5(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 22:24175755-24175755 22:23833568-23833568
32 SMARCB1 NM_003073.5(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 22:24176646-24176646 22:23834459-23834459
33 SMARCB1 NM_003073.5(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 22:24129250-24129250 22:23787063-23787063
34 SMARCB1 NM_003073.5(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 22:24145588-24145588 22:23803401-23803401
35 SMARCB1 NM_003073.5(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 22:24145622-24145622 22:23803435-23803435
36 SMARCB1 NM_003073.5(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 22:24176384-24176384 22:23834197-23834197
37 SMARCB1 NM_003073.5(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 22:24176660-24176660 22:23834473-23834473
38 SMARCB1 NM_003073.5(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 22:24129242-24129242 22:23787055-23787055
39 SMARCB1 NM_003073.5(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 22:24176382-24176382 22:23834195-23834195
40 SMARCB1 NM_003073.5(SMARCB1): c.1143G> C (p.Thr381=) single nucleotide variant Likely benign rs750187119 22:24176352-24176352 22:23834165-23834165
41 SMARCB1 NM_003073.5(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 22:24135882-24135882 22:23793695-23793695
42 SMARCB1 NM_003073.5(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 22:24167513-24167513 22:23825326-23825326
43 SMARCB1 NM_003073.5(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 22:24129240-24129240 22:23787053-23787053
44 SMARCB1 NM_003073.5(SMARCB1): c.*116dup duplication Benign rs397897183 22:24176483-24176483 22:23834296-23834296

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

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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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