MCID: SCH070
MIFTS: 50

Schwannomatosis malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases, Immune diseases

Aliases & Classifications for Schwannomatosis

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Schwannomatosis:

Name: Schwannomatosis 51 11 47 24 53 26 12 49 38 67
Schwannomatosis 1 24 69 26 67
Congenital Cutaneous Neurilemmomatosis 47 24 69
Neurilemmomatosis 11 53 13
Neurofibromatosis Type 3 47 53
Nf3 47 53
 
Neurofibromatosis, Type 3, Mixed Central and Peripheral 67
Neurilemmomatosis Congenital Cutaneous 47
Neurofibromatosis 3 67
Schwannomatosis-1 51
Swnts1 69

Characteristics:

Orphanet epidemiological data:

53
schwannomatosis:
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: Not yet documented

HPO:

63

Classifications:



External Ids:

OMIM51 162091
Disease Ontology11 DOID:3204
ICD1029 Q85.03
ICD9CM31 237.73
NCIt44 C6557
Orphanet53 ORPHA93921
MESH via Orphanet39 C536641
UMLS via Orphanet68 C0917817, C1335929
ICD10 via Orphanet30 Q85.0
MedGen36 C1335929

Summaries for Schwannomatosis

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NIH Rare Diseases:47 Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery. Last updated: 7/26/2015

MalaCards based summary: Schwannomatosis, also known as schwannomatosis 1, is related to plexiform schwannoma and schwannomatosis-2, and has symptoms including abnormality of the vertebral column, abnormality of the skin and meningioma. An important gene associated with Schwannomatosis is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and AMPK Enzyme Complex Pathway. Affiliated tissues include skin and spinal cord, and related mouse phenotypes are embryo and mortality/aging.

OMIM:51 Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is... (162091) more...

UniProtKB/Swiss-Prot:69 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:70 Schwannomatosis is one form of a genetic disorder called neurofibromatosis (NF) that has only recently... more...

Related Diseases for Schwannomatosis

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Diseases in the Schwannomatosis family:

Schwannomatosis-2

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1plexiform schwannoma28.5COQ6, LZTR1, NF1, NF2, SMARCB1, SMARCE1
2schwannomatosis-211.7
3neurofibromatosis, type 211.3
4meningioma, familial10.8
5distal trisomy 16q10.5NF2, SMARCB1
6phencyclidine abuse10.5NF2, SMARCB1
7pseudoglandular variant testicular seminoma10.4NF1, SMARCB1
8watson syndrome10.4NF1, NF2
9ovarian disease10.4NF1, NF2
10conventional fibrosarcoma10.4NF1, NF2
11clear cell ependymoma10.4NF2, SMARCB1
12atypical neurofibroma10.4NF1, NF2
13tropical spastic paraparesis10.4NF1, NF2
14toxascariasis10.4NF2, SMARCB1
15multiple mucosal neuroma10.4NF1, NF2
16spinal canal intradural extramedullary neoplasm10.4NF2, SMARCE1
17bone lymphoma10.4NF1, NF2
18epilepsy, familial focal, with variable foci10.3NF1, NF2
19neurilemmoma of the fifth cranial nerve10.3NF2, SMARCB1
20hypoglossal nerve neoplasm10.3NF1, NF2
21pulmonary plasma cell granuloma10.3PHF10, SMARCB1
22trochlear nerve neoplasm10.2NF1, NF2
23papillary ependymoma10.2NF1, NF2
24angiokeratoma circumscriptum10.2NF1, NF2, SMARCB1
25vestibular gland benign neoplasm10.2NF1, NF2, SMARCB1
26degeneration of macula and posterior pole10.2NF1, NF2, SMARCB1
27non-congenital cyst of kidney10.2NF1, NF2
28stenosis of lacrimal sac10.2NF1, NF2, SMARCB1
29brain sarcoma10.1NF1, SMARCB1
30esophagitis10.1NF1, NF2
31expressive language disorder10.1NF1, NF2, SMARCE1
32xanthogranulomatous pyelonephritis10.1NF1, NF2, SMARCE1
33leopard syndrome 110.1LZTR1, NF1
34alopecia, neurologic defects, and endocrinopathy syndrome10.0SMARCB1, SMARCC2, SMARCE1
35mental retardation, x-linked syndromic, christianson type9.8SMARCB1, SMARCE1
36autoimmune lymphoproliferative syndrome9.8NF1, NF2, SMARCB1, SMARCE1
37neuroblastoma9.8
38neurilemmoma9.8
39juvenile xanthogranuloma9.8
40renal cell carcinoma9.7
41neurofibromatosis, type 19.7
42mononeuropathy9.7
43leiomyoma9.7
44leiomyosarcoma9.7
45cervicitis9.7
46malignant peripheral nerve sheath tumor9.7
47epithelioid malignant peripheral nerve sheath tumor9.7
48neuropathy9.7
49hereditary neuropathy with liability to pressure palsy9.7
50hereditary neuropathies9.7

Graphical network of the top 20 diseases related to Schwannomatosis:



Diseases related to schwannomatosis

Symptoms for Schwannomatosis

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Symptoms by clinical synopsis from OMIM:

162091

Clinical features from OMIM:

162091

Human phenotypes related to Schwannomatosis:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 abnormality of the vertebral column63 HP:0000925
2 abnormality of the skin63 HP:0000951
3 meningioma63 HP:0002858
4 spinal cord tumor63 HP:0010302
5 schwannoma63 HP:0100008
6 paraspinal neurofibromas63 HP:0006751
7 few cafe-au-lait spots63 HP:0007429
8 palmar neurofibromas63 HP:0007576
9 bilateral vestibular schwannoma63 HP:0009589
10 lisch nodules63 HP:0009737

Drugs & Therapeutics for Schwannomatosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With SkypeCompletedNCT02298270
2Genetic Evaluation of NF1 and Scoliosis PatientsCompletedNCT01776125
3Neurofibromatosis (NF) Registry PortalRecruitingNCT01885767
4Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NFActive, not recruitingNCT02435628

Search NIH Clinical Center for Schwannomatosis


Cochrane evidence based reviews: schwannomatosis

Genetic Tests for Schwannomatosis

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Genetic tests related to Schwannomatosis:

id Genetic test Affiliating Genes
1 Schwannomatosis 126 24 SMARCB1
2 Schwannomatosis26 24 NF2

Anatomical Context for Schwannomatosis

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MalaCards organs/tissues related to Schwannomatosis:

35
Skin, Spinal cord

Animal Models for Schwannomatosis or affiliated genes

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MGI Mouse Phenotypes related to Schwannomatosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6COQ6, NF1, NF2, PRKAR1A, SMARCB1, SMARCC2
2MP:00107686.6COQ6, CTNNA3, LZTR1, NF1, NF2, PRKAR1A

Publications for Schwannomatosis

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Articles related to Schwannomatosis:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. (27856782)
2017
2
Creation of an international registry to support discovery in schwannomatosis. (27759912)
2017
3
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. (27921248)
2016
4
Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. (26851632)
2016
5
Addendum to: Spinal schwannomatosis: case report of a rare condition. (27593798)
2016
6
Utility of positron emission tomography in schwannomatosis. (26960263)
2016
7
Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. (27617150)
2016
8
Schwannomatosis of Cervical Vagus Nerve. (27807496)
2016
9
Segmental Schwannomatosis of the Spine: Report of a Rare Case and Brief Review of Literature. (27053311)
2016
10
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells. (26799435)
2016
11
Neurofibromatosis type 2 (NF 2) or schwannomatosis? - Case report study and diagnostic criteria. (27154453)
2016
12
Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation. (26848914)
2016
13
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. (27472264)
2016
14
Erratum: Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. (27231815)
2016
15
Schwannomatosis on a single foot: a case report. (25547315)
2015
16
Multiple Lower Extremity Mononeuropathies by Segmental Schwannomatosis: A Case Report. (26605183)
2015
17
Non-schwannomatosis lesions of the internal acoustic meatus-a diagnostic challenge and management: a series report of nine cases. (25957055)
2015
18
Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis. (26546566)
2015
19
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. (26364901)
2015
20
Immortalized Human Schwann Cell Lines Derived From Tumors of Schwannomatosis Patients. (26657314)
2015
21
Expanding schwannomatosis phenotype. (25663272)
2015
22
The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis. (26073604)
2015
23
Multiple schwannomas of the digital nerves and superficial radial nerve: two unusual cases of segmental schwannomatosis. (26216119)
2015
24
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis. (26001331)
2015
25
Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. (26407091)
2015
26
Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma. (26342709)
2015
27
Is there a link between COQ6 and schwannomatosis? (25835193)
2015
28
An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation. (26431068)
2015
29
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. (25480913)
2015
30
Neuroblastoma-like schwannoma in a case of schwannomatosis: Report of a rare case. (26715928)
2015
31
Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. (26217390)
2015
32
Expanding the mutational spectrum of LZTR1 in schwannomatosis. (25335493)
2015
33
Clinical response to bevacizumab in schwannomatosis. (25339217)
2014
34
A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. (24763291)
2014
35
Schwannomatosis/neurofibromatosis type 2 associated multiple schwannomas visualized on FDG-PET/CT. (23582492)
2013
36
Schwannomatosis: a new member of neurofibromatosis family. (23876891)
2013
37
Schwannomatosis: the overlooked neurofibromatosis? (23701098)
2013
38
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. (22949514)
2012
39
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. (22434358)
2012
40
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. (22752724)
2012
41
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. (21255467)
2011
42
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. (19582488)
2010
43
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm]. (19328320)
2009
44
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. (18647326)
2008
45
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. (18072270)
2008
46
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. (18285426)
2008
47
Germline mutation of INI1/SMARCB1 in familial schwannomatosis. (17357086)
2007
48
Somatic instability of the NF2 gene in schwannomatosis. (12975302)
2003
49
Neurofibromatosis versus schwannomatosis]. (9676422)
1998
50
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. (9399891)
1997

Variations for Schwannomatosis

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Clinvar genetic disease variations for Schwannomatosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCB1NM_003073.4(SMARCB1): c.*82C> TSNVPathogenicrs878854600GRCh38Chr 22, 23834262: 23834262
2SMARCB1NM_003073.4(SMARCB1): c.143C> T (p.Pro48Leu)SNVPathogenicrs387906811GRCh37Chr 22, 24133992: 24133992
3NF2NC_000022.11: g.(29668447_29671826)_(29681601_?)deldeletionPathogenicGRCh38Chr 22, 29668447: 29681601
4NF2NM_000268.3(NF2): c.125_126insG (p.Gly43Argfs)insertionPathogenicrs587776564GRCh37Chr 22, 30032750: 30032751
5NF2NM_000268.3(NF2): c.205_211delAAGGACA (p.Lys69Glnfs)deletionPathogenicrs587776565GRCh37Chr 22, 30032830: 30032836
6SMARCB1NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter)SNVPathogenicrs74315513GRCh37Chr 22, 24129390: 24129390
7SMARCB1NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs)indelPathogenicrs587776679GRCh37Chr 22, 24134052: 24134065
8SMARCB1SMARCB1, 7-BP DEL, NT233deletionPathogenicChr na, -1: -1
9SMARCB1NM_003073.4(SMARCB1): c.629-361_795+2103dupduplicationPathogenicGRCh38Chr 22, 23816409: 23819039
10SMARCB1NM_003073.4(SMARCB1): c.92A> T (p.Glu31Val)SNVPathogenicrs267607072GRCh37Chr 22, 24129448: 24129448

Expression for genes affiliated with Schwannomatosis

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Search GEO for disease gene expression data for Schwannomatosis.

Pathways for genes affiliated with Schwannomatosis

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Pathways related to Schwannomatosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3SMARCB1, SMARCC2, SMARCE1
2
Show member pathways
8.4PRKAR1A, SMARCB1, SMARCC2, SMARCE1

GO Terms for genes affiliated with Schwannomatosis

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

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosomeGO:000022810.0MSH4, SMARCE1
2adherens junctionGO:00059129.9CTNNA3, NF2
3SWI/SNF complexGO:00165149.9SMARCB1, SMARCC2, SMARCE1
4BAF-type complexGO:00905449.8SMARCB1, SMARCC2, SMARCE1
5npBAF complexGO:00715649.4PHF10, SMARCB1, SMARCC2, SMARCE1
6nuclear chromatinGO:00007909.3SMARCB1, SMARCC2, SMARCE1
7nBAF complexGO:00715659.2SMARCB1, SMARCC2, SMARCE1
8protein complexGO:00432347.8NF2, PRKAR1A, SMARCB1, SMARCC2, SMARCE1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell-matrix adhesionGO:000195310.2NF1, NF2
2negative regulation of MAPK cascadeGO:004340910.2NF1, NF2
3nucleosome disassemblyGO:00063379.9SMARCB1, SMARCC2, SMARCE1
4ATP-dependent chromatin remodelingGO:00430449.7SMARCB1, SMARCC2, SMARCE1
5mesoderm formationGO:00017079.6NF2, PRKAR1A
6chromatin remodelingGO:00063389.5SMARCB1, SMARCC2, SMARCE1
7covalent chromatin modificationGO:00165699.3SMARCB1, SMARCC2, SMARCE1
8negative regulation of protein kinase activityGO:00064699.2NF1, NF2, PRKAR1A
9regulation of transcription from RNA polymerase II promoterGO:00063578.6PRKAR1A, SMARCB1, SMARCC2, SMARCE1

Molecular functions related to Schwannomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleosomal DNA bindingGO:00314929.5SMARCB1, SMARCC2, SMARCE1
2RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.4SMARCB1, SMARCC2, SMARCE1
3transcription coactivator activityGO:00037139.3SMARCB1, SMARCC2, SMARCE1

Sources for Schwannomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet