MCID: NRL002
MIFTS: 42

Neurilemmomatosis

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

Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis 12 25 59 15
Schwannomatosis 12 76 24 53 25 59 29 13 55 6 44 40 73
Neurofibromatosis Type 3 53 25 59
Neurinomatosis 25 73
Nf3 53 59
Neurilemmomatosis, Congenital Cutaneous 25
Congenital Cutaneous Neurilemmomatosis 53
Neurilemmomatosis Congenital Cutaneous 53
Multiple Neurilemmomas 25
Multiple Schwannomas 25
Neurofibromatosis 3 73
Schwannomatosis 1 73

Characteristics:

Orphanet epidemiological data:

59
neurofibromatosis type 3
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: Not yet documented;

GeneReviews:

24
Penetrance The data on penetrance are limited, though it is less than 100% for both smarcb1- [swensen et al 2009, plotkin et al 2013] and lztr1-related schwannomatosis. reduced penetrance is more frequently reported in individuals with lztr1-related schwannomatosis [piotrowski et al 2014, paganini et al 2015, smith et al 2015, gripp et al 2017]...

Classifications:



External Ids:

Disease Ontology 12 DOID:3204
ICD10 33 Q85.03
ICD9CM 35 237.73
MeSH 44 C536641
NCIt 50 C6557
SNOMED-CT 68 142071000119101
Orphanet 59 ORPHA93921
UMLS via Orphanet 74 C2931480 C0917817 C1335929
MESH via Orphanet 45 C536641
ICD10 via Orphanet 34 Q85.0

Summaries for Neurilemmomatosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Neurilemmomatosis, also known as schwannomatosis, is related to schwannomatosis 1 and neurofibromatosis, type ii. An important gene associated with Neurilemmomatosis is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Gastric cancer and AMPK Enzyme Complex Pathway. The drugs Pregabalin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are Increased proliferation and embryo

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.

Wikipedia : 76 Schwannomatosis is one form of a genetic disorder called neurofibromatosis (NF) that has only recently... more...

GeneReviews: NBK487394

Related Diseases for Neurilemmomatosis

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 schwannomatosis 1 33.5 NF2 SMARCB1
2 neurofibromatosis, type ii 30.0 NF1 NF2
3 neurilemmoma 29.4 NF1 NF2 PRKAR1A SMARCB1
4 neurofibromatosis, type iii, mixed central and peripheral 11.0
5 neurofibromatosis, type i 10.9
6 neurofibromatosis, type iv, of riccardi 10.9
7 schwannomatosis 2 10.9
8 monosomy 22 10.7 NF2 SMARCB1
9 rhabdoid meningioma 10.7 NF2 SMARCB1
10 tanycytic ependymoma 10.6 NF2 SMARCB1
11 neurofibromatosis, familial spinal 10.6 NF1 NF2
12 small cell sarcoma 10.6 NF2 SMARCB1
13 neurofibrosarcoma 10.6 NF1 NF2
14 meningothelial meningioma 10.6 NF2 SMARCE1
15 plexiform schwannoma 10.5 NF1 NF2
16 epithelioid malignant peripheral nerve sheath tumor 10.5 NF1 SMARCB1
17 immature cataract 10.5 NF1 NF2
18 cerebellopontine angle tumor 10.5 NF2 SMARCB1
19 atypical neurofibroma 10.5 NF1 NF2
20 amyloid tumor 10.5 NF1 NF2
21 benign meningioma 10.5 NF2 SMARCE1
22 optic nerve neoplasm 10.4 NF1 NF2
23 acoustic neuroma 10.4 NF1 NF2
24 spinal cord ependymoma 10.4 NF1 NF2
25 cellular schwannoma 10.3 NF1 NF2
26 autosomal dominant café au lait spots 10.3 NF1 SPRED1
27 organ system benign neoplasm 10.3 NF1 NF2 SMARCB1
28 neuroma 10.3 NF1 NF2 SMARCB1
29 nervous system cancer 10.3 NF1 NF2 SMARCB1
30 malignant peripheral nerve sheath tumor 10.3 NF1 NF2 SMARCB1
31 legius syndrome 10.2 NF1 SPRED1
32 borjeson-forssman-lehmann syndrome 10.2 SMARCB1 SMARCE1
33 spinal meningioma 10.2 NF1 NF2 SMARCE1
34 spinal canal and spinal cord meningioma 10.2 NF1 NF2 SMARCE1
35 neurofibroma 10.2 NF1 NF2
36 plexiform neurofibroma 10.0 NF1 NF2 SPRED1
37 autosomal genetic disease 10.0 NF1 NF2 PRKAR1A
38 juvenile xanthogranuloma 9.9
39 noonan syndrome 1 9.9 LZTR1 NF1 SPRED1
40 coffin-siris syndrome 1 9.8 SMARCB1 SMARCC2 SMARCE1
41 peripheral nervous system neoplasm 9.8 NF1 NF2
42 meningioma, familial 9.8 NF1 NF2 SMARCB1 SMARCE1
43 multiple endocrine neoplasia 9.8 NF1 PRKAR1A
44 gynecomastia 9.6
45 cerebritis 9.6
46 ulnar neuropathy 9.6
47 neuropathy 9.6

Graphical network of the top 20 diseases related to Neurilemmomatosis:



Diseases related to Neurilemmomatosis

Symptoms & Phenotypes for Neurilemmomatosis

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

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

MGI Mouse Phenotypes related to Neurilemmomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.43 NF1 NF2 PRKAR1A SMARCB1 SMARCC2 COQ6
2 mortality/aging MP:0010768 9.23 NF1 NF2 PRKAR1A SMARCB1 SMARCC2 SMARCE1

Drugs & Therapeutics for Neurilemmomatosis

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Illicit, Investigational Phase 1 148553-50-8 5486971
2 Analgesics Phase 1
3 Anti-Anxiety Agents Phase 1
4 Anticonvulsants Phase 1
5 calcium channel blockers Phase 1
6 Calcium, Dietary Phase 1
7 Central Nervous System Depressants Phase 1
8 Peripheral Nervous System Agents Phase 1
9 Psychotropic Drugs Phase 1
10 Tranquilizing Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bioequivalence Study of Two Formulations of Pregabalin CR(Controlled-release) Table 300 mg Completed NCT02952937 Phase 1 GLA5PR GLARS-NF3 tablet 300mg;GLA5PR GLARS-NF1 tablet 300mg
2 Bioequivalence Study of Two Formulations of Pregabalin CR (Controlled-release) Table 150 mg Completed NCT02955472 Phase 1 GLA5PR GLARS-NF3 tablet 150mg;GLA5PR GLARS-NF1 tablet 150mg
3 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF Completed NCT02435628
4 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270 Not Applicable
5 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125
6 Neurofibromatosis (NF) Registry Portal Recruiting NCT01885767
7 Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing Recruiting NCT03406208 Not Applicable

Search NIH Clinical Center for Neurilemmomatosis

Cochrane evidence based reviews: schwannomatosis

Genetic Tests for Neurilemmomatosis

Genetic tests related to Neurilemmomatosis:

# Genetic test Affiliating Genes
1 Schwannomatosis 29 LZTR1 SMARCB1

Anatomical Context for Neurilemmomatosis

MalaCards organs/tissues related to Neurilemmomatosis:

41
Skin

Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show all 12)
# Title Authors Year
1
Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. ( 26217390 )
2015
2
Multiple neurilemmomas in Birt-Hogg-DubAc syndrome: case report. ( 22326190 )
2012
3
Neurilemmomatosis, NF2, and juvenile xanthogranuloma. ( 9810909 )
1998
4
Follow-up study of a patient with neurilemmomatosis. ( 9366836 )
1997
5
Multiple neurilemmoma in both legs. A case report. ( 7768661 )
1995
6
Neurofibromatosis 2 and neurilemmomatosis gene are identical. ( 7798645 )
1995
7
Familial neurilemmomatosis: report of a case. ( 8219616 )
1993
8
Congenital neurilemmomatosis. ( 1583187 )
1992
9
Neurilemmomatosis. ( 1751355 )
1991
10
Multiple neurilemmoma of the cauda equina. A case report. ( 1774600 )
1991
11
Neurilemmomatosis and neurofibromatosis syndrome. ( 3935581 )
1985
12
Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis. ( 6427303 )
1984

Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

6
(show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh37 Chromosome 22, 24167504: 24167504
2 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh38 Chromosome 22, 23825317: 23825317
3 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh37 Chromosome 22, 24129150: 24176705
4 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh38 Chromosome 22, 23786963: 23834518
5 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh38 Chromosome 22, 23833572: 23834518
6 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh37 Chromosome 22, 24175759: 24176705
7 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh37 Chromosome 22, 24135882: 24135882
8 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh38 Chromosome 22, 23793695: 23793695
9 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh38 Chromosome 22, 23787013: 23787013
10 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh37 Chromosome 22, 24129200: 24129200
11 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh38 Chromosome 22, 23787022: 23787022
12 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh37 Chromosome 22, 24129209: 24129209
13 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh38 Chromosome 22, 23816864: 23816864
14 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh37 Chromosome 22, 24159051: 24159051
15 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 GRCh38 Chromosome 22, 23834192: 23834194
16 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 GRCh37 Chromosome 22, 24176379: 24176381
17 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh37 Chromosome 22, 24176480: 24176480
18 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh38 Chromosome 22, 23834293: 23834293
19 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh38 Chromosome 22, 23787021: 23787021
20 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh37 Chromosome 22, 24129208: 24129208
21 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh38 Chromosome 22, 23787153: 23787153
22 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh37 Chromosome 22, 24129340: 24129340
23 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh38 Chromosome 22, 23833568: 23833568
24 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh37 Chromosome 22, 24175755: 24175755
25 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh38 Chromosome 22, 23834459: 23834459
26 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh37 Chromosome 22, 24176646: 24176646
27 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh38 Chromosome 22, 23787063: 23787063
28 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh37 Chromosome 22, 24129250: 24129250
29 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh38 Chromosome 22, 23803401: 23803401
30 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh37 Chromosome 22, 24145588: 24145588
31 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh38 Chromosome 22, 23803435: 23803435
32 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh37 Chromosome 22, 24145622: 24145622
33 SMARCB1 NM_003073.4(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 GRCh37 Chromosome 22, 24176384: 24176384
34 SMARCB1 NM_003073.4(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 GRCh38 Chromosome 22, 23834197: 23834197
35 SMARCB1 NM_003073.4(SMARCB1): c.*116dupG duplication Benign rs397897183 GRCh37 Chromosome 22, 24176483: 24176483
36 SMARCB1 NM_003073.4(SMARCB1): c.*116dupG duplication Benign rs397897183 GRCh38 Chromosome 22, 23834296: 23834296
37 SMARCB1 NM_003073.4(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 GRCh37 Chromosome 22, 24176660: 24176660
38 SMARCB1 NM_003073.4(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 GRCh38 Chromosome 22, 23834473: 23834473
39 SMARCB1 NM_003073.4(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 GRCh38 Chromosome 22, 23787053: 23787053
40 SMARCB1 NM_003073.4(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 GRCh37 Chromosome 22, 24129240: 24129240
41 SMARCB1 NM_003073.4(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 GRCh38 Chromosome 22, 23787055: 23787055
42 SMARCB1 NM_003073.4(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 GRCh37 Chromosome 22, 24129242: 24129242
43 SMARCB1 NM_003073.4(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 GRCh37 Chromosome 22, 24176382: 24176382
44 SMARCB1 NM_003073.4(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 GRCh38 Chromosome 22, 23834195: 23834195
45 SMARCB1 NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 GRCh37 Chromosome 22, 24134007: 24134007
46 SMARCB1 NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 GRCh38 Chromosome 22, 23791820: 23791820
47 SMARCB1 NM_003073.4(SMARCB1): c.712G> A (p.Ala238Thr) single nucleotide variant Uncertain significance rs765514964 GRCh37 Chromosome 22, 24159040: 24159040
48 SMARCB1 NM_003073.4(SMARCB1): c.712G> A (p.Ala238Thr) single nucleotide variant Uncertain significance rs765514964 GRCh38 Chromosome 22, 23816853: 23816853
49 SMARCB1 NM_003073.4(SMARCB1): c.856_858delAAG (p.Lys286del) deletion Uncertain significance rs1060503020 GRCh38 Chromosome 22, 23825285: 23825287
50 SMARCB1 NM_003073.4(SMARCB1): c.856_858delAAG (p.Lys286del) deletion Uncertain significance rs1060503020 GRCh37 Chromosome 22, 24167472: 24167474

Expression for Neurilemmomatosis

Search GEO for disease gene expression data for Neurilemmomatosis.

Pathways for Neurilemmomatosis

Pathways related to Neurilemmomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 PHF10 SMARCB1 SMARCC2 SMARCE1
2
Show member pathways
11.16 PRKAR1A SMARCB1 SMARCC2 SMARCE1
3
Show member pathways
10.98 SMARCB1 SMARCC2 SMARCE1

GO Terms for Neurilemmomatosis

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.56 PRKAR1A SMARCB1 SMARCC2 SMARCE1
2 nuclear chromatin GO:0000790 9.5 SMARCB1 SMARCC2 SMARCE1
3 nuclear chromosome GO:0000228 9.4 MSH4 SMARCE1
4 transcriptional repressor complex GO:0017053 9.37 SMARCC2 SMARCE1
5 SWI/SNF complex GO:0016514 9.33 SMARCB1 SMARCC2 SMARCE1
6 nBAF complex GO:0071565 9.13 SMARCB1 SMARCC2 SMARCE1
7 npBAF complex GO:0071564 8.92 PHF10 SMARCB1 SMARCC2 SMARCE1

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.71 PHF10 SMARCB1 SMARCC2 SMARCE1
2 chromatin remodeling GO:0006338 9.5 SMARCB1 SMARCC2 SMARCE1
3 regulation of MAPK cascade GO:0043408 9.46 NF1 SPRED1
4 mesoderm formation GO:0001707 9.43 NF2 PRKAR1A
5 ATP-dependent chromatin remodeling GO:0043044 9.43 SMARCB1 SMARCC2 SMARCE1
6 negative regulation of cell-matrix adhesion GO:0001953 9.37 NF1 NF2
7 negative regulation of MAPK cascade GO:0043409 9.33 NF1 NF2 SPRED1
8 negative regulation of protein kinase activity GO:0006469 9.26 NF1 NF2 PRKAR1A SPRED1
9 nucleosome disassembly GO:0006337 8.8 SMARCB1 SMARCC2 SMARCE1

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

# 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 Neurilemmomatosis

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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