Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 57 75 29 6 73
Schwannomatosis, Somatic 57 29
Swnts1 57 75
Neurilemmomatosis, Congenital Cutaneous 57
Congenital Cutaneous Neurilemmomatosis 75
Schwannomatosis-1, Susceptibility to 57
Schwannomatosis, Type 1 40
Schwannomatosis-1 57
Schwannomatosis 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



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, 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 and spinal cord, and related phenotypes are meningioma and abnormality of the vertebral column

UniProtKB/Swiss-Prot : 75 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.

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 14)
# Related Disease Score Top Affiliating Genes
1 neurilemmomatosis 30.9 NF2 SMARCB1
2 schwannomatosis 2 11.0
3 monosomy 22 9.7 NF2 SMARCB1
4 rhabdoid meningioma 9.7 NF2 SMARCB1
5 tanycytic ependymoma 9.6 NF2 SMARCB1
6 small cell sarcoma 9.6 NF2 SMARCB1
7 cerebellopontine angle tumor 9.6 NF2 SMARCB1
8 neurilemmoma 9.6 NF2 SMARCB1
9 organ system benign neoplasm 9.5 NF2 SMARCB1
10 neuroma 9.5 NF2 SMARCB1
11 nervous system cancer 9.4 NF2 SMARCB1
12 malignant peripheral nerve sheath tumor 9.3 NF2 SMARCB1
13 meningioma, familial 9.2 NF2 SMARCB1
14 brain cancer 9.0 NF2 SMARCB1

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



Diseases related to Schwannomatosis 1

Symptoms & Phenotypes for Schwannomatosis 1

Symptoms via clinical synopsis from OMIM:

57
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 1:

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

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

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 29 NF2 SMARCB1
2 Schwannomatosis, Somatic 29

Anatomical Context for Schwannomatosis 1

MalaCards organs/tissues related to Schwannomatosis 1:

41
Skin, Spinal Cord

Publications for Schwannomatosis 1

Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

6
(show all 17)
# 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 NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs74315513 GRCh37 Chromosome 22, 24129390: 24129390
7 SMARCB1 NM_003073.4(SMARCB1): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs74315513 GRCh38 Chromosome 22, 23787203: 23787203
8 SMARCB1 NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs) indel Pathogenic rs587776679 GRCh37 Chromosome 22, 24134052: 24134065
9 SMARCB1 NM_003073.4(SMARCB1): c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs) indel Pathogenic rs587776679 GRCh38 Chromosome 22, 23791865: 23791878
10 SMARCB1 SMARCB1, 7-BP DEL, NT233 deletion Pathogenic
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.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
17 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh37 Chromosome 22, 24176449: 24176449

Expression for Schwannomatosis 1

Search GEO for disease gene expression data for Schwannomatosis 1.

Pathways for Schwannomatosis 1

GO Terms for Schwannomatosis 1

Cellular components related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 8.62 NF2 SMARCB1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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