MCID: SCH070
MIFTS: 51

Schwannomatosis

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

Aliases & Classifications for Schwannomatosis

MalaCards integrated aliases for Schwannomatosis:

Name: Schwannomatosis 54 12 50 24 25 56 29 13 52 42 69
Neurilemmomatosis 12 25 56 14
Schwannomatosis 1 24 71 29 69
Congenital Cutaneous Neurilemmomatosis 50 24 71
Neurofibromatosis Type 3 50 25 56
Neurinomatosis 25 69
Nf3 50 56
Neurilemmomatosis, Congenital Cutaneous 25
Neurilemmomatosis Congenital Cutaneous 50
Multiple Neurilemmomas 25
Multiple Schwannomas 25
Neurofibromatosis 3 69
Schwannomatosis-1 54
Swnts1 71

Characteristics:

Orphanet epidemiological data:

56
neurofibromatosis type 3
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: Not yet documented;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 54 162091
Disease Ontology 12 DOID:3204
ICD10 33 Q85.03
ICD9CM 35 237.73
NCIt 47 C6557
SNOMED-CT 64 142071000119101
Orphanet 56 ORPHA93921
MESH via Orphanet 43 C536641
UMLS via Orphanet 70 C0917817 C1335929 C2931480
ICD10 via Orphanet 34 Q85.0
MedGen 40 C1335929
UMLS 69 C1335929

Summaries for Schwannomatosis

NIH Rare Diseases : 50 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 neurilemmomatosis, is related to schwannomatosis-2 and neurofibromatosis, type 1, and has symptoms including meningioma, schwannoma and abnormality of the vertebral column. 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/superpathways are AMPK Enzyme Complex Pathway and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include skin and spinal cord, and related phenotypes are Increased proliferation and embryo

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 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.

OMIM : 54
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)

Wikipedia : 72 Schwannomatosis is one form of a genetic disorder called neurofibromatosis (NF) that has only recently... more...

Related Diseases for Schwannomatosis

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 54)
id Related Disease Score Top Affiliating Genes
1 schwannomatosis-2 11.7
2 neurofibromatosis, type 1 11.4
3 meningioma, familial 10.8
4 distal trisomy 6q 10.6 NF2 SMARCB1
5 basosquamous carcinoma 10.6 NF2 SMARCB1
6 neurofibromatosis-noonan syndrome 10.5 NF1 NF2
7 enteric pattern testicular yolk sac tumor 10.5 NF1 SMARCB1
8 brain stem ependymoma 10.5 NF2 SMARCB1
9 pediatric fibrosarcoma 10.5 NF1 NF2
10 gallbladder papillary carcinoma 10.5 NF2 SMARCE1
11 ascaridiasis 10.5 NF2 SMARCB1
12 demyelinating disease 10.5 NF1 NF2
13 benign pleural mesothelioma 10.5 NF1 NF2
14 macrocystic neurilemmoma 10.5 NF2 SMARCB1
15 third cranial nerve disease 10.5 NF2 SMARCE1
16 ovarian disease 10.5 NF1 NF2
17 borna disease 10.4 NF1 NF2
18 lung lymphoma 10.4 NF1 NF2
19 c-p angle neurinoma 10.4 NF1 NF2
20 vestibular disease 10.3 NF1 NF2
21 central nervous system sarcoma 10.3 NF1 SMARCB1
22 clear cell ependymoma 10.3 NF1 NF2
23 vestibular gland benign neoplasm 10.2 NF1 NF2 SMARCB1
24 kidney hypertrophy 10.2 NF1 NF2
25 small cell sarcoma 10.2 NF1 NF2 SMARCB1
26 bladder urachal squamous cell carcinoma 10.2 NF1 NF2 SMARCB1
27 mental retardation, x-linked syndromic, christianson type 10.2 SMARCB1 SMARCE1
28 diphtheria 10.1 NF1 NF2 SMARCE1
29 brain stem cancer 10.1 SMARCB1 SMARCE1
30 epidural abscess 10.1 NF1 NF2 SMARCE1
31 neurofibromatosis, type 2 10.1
32 epilepsy, familial focal, with variable foci 1 10.0 MSN NF1 NF2
33 estrogen resistance 10.0 SMARCB1 SMARCC2 SMARCE1
34 postmenopausal atrophic vaginitis 9.9 NF1 NF2
35 neuroblastoma 9.8
36 neurilemmoma 9.8
37 juvenile xanthogranuloma 9.8
38 lymphoplasmacytic lymphoma 9.7 NF1 NF2 PRKAR1A
39 plexiform schwannoma 9.7
40 malignant peripheral nerve sheath tumor 9.7
41 epithelioid malignant peripheral nerve sheath tumor 9.7
42 neuropathy 9.7
43 hereditary neuropathy with liability to pressure palsy 9.7
44 renal cell carcinoma 9.7
45 hereditary neuropathies 9.7
46 mononeuropathy 9.7
47 leiomyoma 9.7
48 leiomyosarcoma 9.7
49 cervicitis 9.7
50 sporadic hemiplegic migraine 9.6 NF1 PRKAR1A

Graphical network of the top 20 diseases related to Schwannomatosis:



Diseases related to Schwannomatosis

Symptoms & Phenotypes for Schwannomatosis

Symptoms via clinical synopsis from OMIM:

54

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:

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Schwannomatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.43 COQ6 NF1 NF2 PRKAR1A SMARCB1 SMARCC2
2 mortality/aging MP:0010768 9.23 COQ6 LZTR1 NF1 NF2 PRKAR1A SMARCB1

Drugs & Therapeutics for Schwannomatosis

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF Completed NCT02435628
2 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
3 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125
4 Neurofibromatosis (NF) Registry Portal Recruiting NCT01885767

Search NIH Clinical Center for Schwannomatosis

Cochrane evidence based reviews: schwannomatosis

Genetic Tests for Schwannomatosis

Genetic tests related to Schwannomatosis:

id Genetic test Affiliating Genes
1 Schwannomatosis 1 29 24 SMARCB1
2 Schwannomatosis 29 24 NF2

Anatomical Context for Schwannomatosis

MalaCards organs/tissues related to Schwannomatosis:

39
Skin, Spinal Cord

Publications for Schwannomatosis

Articles related to Schwannomatosis:

(show top 50) (show all 69)
id Title Authors Year
1
Familial Schwannomatosis: A Diagnostic Challenge. ( 28384950 )
2017
2
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 27856782 )
2017
3
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. ( 28436162 )
2017
4
Massive Oculomotor Nerve Enlargement: A Case of Presumed Schwannomatosis. ( 28512503 )
2017
5
Six cases of sporadic schwannomatosis: Topographic distribution and outcomes of peripheral nerve tumors. ( 28781128 )
2017
6
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 28696935 )
2017
7
Creation of an international registry to support discovery in schwannomatosis. ( 27759912 )
2017
8
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. ( 28365909 )
2017
9
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. ( 27921248 )
2016
10
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
11
Addendum to: Spinal schwannomatosis: case report of a rare condition. ( 27593798 )
2016
12
Utility of positron emission tomography in schwannomatosis. ( 26960263 )
2016
13
Schwannomatosis of Cervical Vagus Nerve. ( 27807496 )
2016
14
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis. ( 27527647 )
2016
15
Multiparametric whole-body anatomic, functional, and metabolic imaging characteristics of peripheral lesions in patients with schwannomatosis. ( 26991037 )
2016
16
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. ( 27472264 )
2016
17
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
18
Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation. ( 26848914 )
2016
19
Segmental Schwannomatosis of the Spine: Report of a Rare Case and Brief Review of Literature. ( 27053311 )
2016
20
Neurofibromatosis type 2 (NF 2) or schwannomatosis? - Case report study and diagnostic criteria. ( 27154453 )
2016
21
Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. ( 26851632 )
2016
22
Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. ( 27617150 )
2016
23
A rare case of schwannomatosis incidentally detected by A^a8,F-FDG PET/CT during metabolic evaluation of a chest wall tumor. ( 25459196 )
2015
24
The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis. ( 26073604 )
2015
25
Expanding schwannomatosis phenotype. ( 25663272 )
2015
26
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
27
Immortalized Human Schwann Cell Lines Derived From Tumors of Schwannomatosis Patients. ( 26657314 )
2015
28
Multiple Lower Extremity Mononeuropathies by Segmental Schwannomatosis: A Case Report. ( 26605183 )
2015
29
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. ( 25480913 )
2015
30
Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. ( 25631985 )
2015
31
Non-schwannomatosis lesions of the internal acoustic meatus-a diagnostic challenge and management: a series report of nine cases. ( 25957055 )
2015
32
An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation. ( 26431068 )
2015
33
Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis. ( 26546566 )
2015
34
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. ( 26364901 )
2015
35
Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. ( 26217390 )
2015
36
Neuroblastoma-like schwannoma in a case of schwannomatosis: Report of a rare case. ( 26715928 )
2015
37
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis. ( 26001331 )
2015
38
Multiple schwannomas of the digital nerves and superficial radial nerve: two unusual cases of segmental schwannomatosis. ( 26216119 )
2015
39
Is there a link between COQ6 and schwannomatosis? ( 25835193 )
2015
40
Expanding the mutational spectrum of LZTR1 in schwannomatosis. ( 25335493 )
2015
41
Schwannomatosis on a single foot: a case report. ( 25547315 )
2015
42
Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma. ( 26342709 )
2015
43
SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis. ( 24525513 )
2014
44
Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? ( 25324890 )
2014
45
Orbital schwannomatosis in the absence of neurofibromatosis. ( 25304146 )
2014
46
A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. ( 24763291 )
2014
47
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. ( 24933152 )
2014
48
Clinical response to bevacizumab in schwannomatosis. ( 25339217 )
2014
49
Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature. ( 23817811 )
2013
50
Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials. ( 24249806 )
2013

Variations for Schwannomatosis

ClinVar genetic disease variations for Schwannomatosis:

6 (show all 12)
id 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.205_211delAAGGACA (p.Lys69Glnfs) deletion Pathogenic rs587776565 GRCh37 Chromosome 22, 30032830: 30032836
4 SMARCB1 NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs74315513 GRCh37 Chromosome 22, 24129390: 24129390
5 SMARCB1 NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs) indel Pathogenic rs587776679 GRCh37 Chromosome 22, 24134052: 24134065
6 SMARCB1 SMARCB1, 7-BP DEL, NT233 deletion Pathogenic
7 SMARCB1 NM_003073.4(SMARCB1): c.629-361_795+2103dup duplication Pathogenic GRCh38 Chromosome 22, 23816409: 23819039
8 SMARCB1 NM_003073.4(SMARCB1): c.92A> T (p.Glu31Val) single nucleotide variant Pathogenic rs267607072 GRCh37 Chromosome 22, 24129448: 24129448
9 SMARCB1 NM_003073.4(SMARCB1): c.143C> T (p.Pro48Leu) single nucleotide variant Pathogenic rs387906811 GRCh37 Chromosome 22, 24133992: 24133992
10 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405
11 SMARCB1 NM_003073.4(SMARCB1): c.118C> T (p.Arg40Ter) single nucleotide variant Pathogenic rs1060503015 GRCh38 Chromosome 22, 23791780: 23791780
12 SMARCB1 NM_003073.4(SMARCB1): c.152G> A (p.Trp51Ter) single nucleotide variant Pathogenic rs1060503016 GRCh38 Chromosome 22, 23791814: 23791814

Expression for Schwannomatosis

Search GEO for disease gene expression data for Schwannomatosis.

Pathways for Schwannomatosis

Pathways related to Schwannomatosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 PRKAR1A SMARCB1 SMARCC2 SMARCE1
2
Show member pathways
10.98 SMARCB1 SMARCC2 SMARCE1

GO Terms for Schwannomatosis

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

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.67 PRKAR1A SMARCB1 SMARCC2 SMARCE1
2 nuclear chromatin GO:0000790 9.5 SMARCB1 SMARCC2 SMARCE1
3 SWI/SNF complex GO:0016514 9.43 SMARCB1 SMARCC2 SMARCE1
4 transcriptional repressor complex GO:0017053 9.4 SMARCC2 SMARCE1
5 nBAF complex GO:0071565 9.33 SMARCB1 SMARCC2 SMARCE1
6 BAF-type complex GO:0090544 9.13 SMARCB1 SMARCC2 SMARCE1
7 npBAF complex GO:0071564 8.92 PHF10 SMARCB1 SMARCC2 SMARCE1

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

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.73 PRKAR1A SMARCB1 SMARCC2 SMARCE1
2 nervous system development GO:0007399 9.71 PHF10 SMARCB1 SMARCC2 SMARCE1
3 covalent chromatin modification GO:0016569 9.65 SMARCB1 SMARCC2 SMARCE1
4 mesoderm formation GO:0001707 9.46 NF2 PRKAR1A
5 negative regulation of protein kinase activity GO:0006469 9.43 NF1 NF2 PRKAR1A
6 negative regulation of MAPK cascade GO:0043409 9.37 NF1 NF2
7 chromatin remodeling GO:0006338 9.33 SMARCB1 SMARCC2 SMARCE1
8 negative regulation of cell-matrix adhesion GO:0001953 9.32 NF1 NF2
9 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCB1 SMARCC2 SMARCE1
10 nucleosome disassembly GO:0006337 8.8 SMARCB1 SMARCC2 SMARCE1

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

id Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.33 SMARCB1 SMARCC2 SMARCE1
2 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.13 SMARCB1 SMARCC2 SMARCE1
3 nucleosomal DNA binding GO:0031492 8.8 SMARCB1 SMARCC2 SMARCE1

Sources for Schwannomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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