NF3
MCID: NRL002
MIFTS: 52

Neurilemmomatosis (NF3)

Categories: Cancer diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis 11 42 14
Schwannomatosis 11 24 19 42 75 28 53 5 43 71
Neurofibromatosis Type 3 19 42 75 33
Neurilemmomatosis Congenital Cutaneous 19 5
Neurinomatosis 42 71
Mixed Central and Peripheral Neurofibromatosis 33
Neurilemmomatosis, Congenital Cutaneous 42
Congenital Cutaneous Neurilemmomatosis 19
Nf3 - [neurofibromatosis Type 3] 33
Multiple Neurilemmomas 42
Multiple Schwannomas 42
Neurofibromatosis 3 71
Schwannomatosis 1 71
Nf3 19

Characteristics:


GeneReviews:

24
Penetrance The data on penetrance are limited, though it is less than 100% for both smarcb1- and lztr1-related schwannomatosis [swensen et al 2009, plotkin et al 2013]. 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 11 DOID:3204
ICD9CM 34 237.73
MeSH 43 C536641
NCIt 49 C6557
SNOMED-CT 68 781641005
ICD11 33 941488646
UMLS 71 C0334614 C0917817 C1335929 more

Summaries for Neurilemmomatosis

MedlinePlus Genetics: 42 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.The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal.Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumors, are much less common in schwannomatosis.

MalaCards based summary: Neurilemmomatosis, also known as schwannomatosis, is related to schwannomatosis 1 and full schwannomatosis. 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 Assembly of the pre-replicative complex and Chromatin organization. The drugs Tanezumab and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include small intestine, spinal cord and lymph node, and related phenotypes are Increased Nanog expression and Increased proliferation

GARD: 19 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 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.

Wikipedia 75 Neurofibromatosis type 3: Neurofibromatosis type 3 (also known as "Neurofibromatosis mixed type") resembles von Recklinghausen's... more...

Schwannomatosis: Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder... more...

GeneReviews: NBK487394

Related Diseases for Neurilemmomatosis

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

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 schwannomatosis 1 32.7 SMARCB1 NF2
2 full schwannomatosis 32.1 SMARCB1 NF2 LZTR1 COQ6
3 neurofibromatosis, type i 31.3 SPRED1 NF2 NF1
4 bap1 tumor predisposition syndrome 31.0 SMARCE1 SMARCB1 SMARCA4 NF2 NF1 LZTR1
5 neurofibromatosis 30.9 SPRED1 SMARCB1 NF2 NF1 LZTR1
6 inherited cancer-predisposing syndrome 30.9 SMARCE1 SMARCB1 SMARCA4 NF2 NF1 LZTR1
7 malignant peripheral nerve sheath tumor 30.8 SOX10 NF2 NF1
8 neurilemmoma 30.7 SOX10 SMARCB1 NF2 NF1 LZTR1
9 neurofibromatosis, type ii 30.6 SMARCB1 NF2 NF1 LZTR1 DCAF1
10 acoustic neuroma 30.6 SMARCB1 NF2 NF1 LZTR1 DCAF1
11 rasopathy 30.5 SPRED1 NF2 NF1 LZTR1 CUL3
12 neurofibromatosis-noonan syndrome 30.4 SPRED1 NF1 LZTR1
13 neurilemmoma of the fifth cranial nerve 30.3 NF2 NF1
14 neuroma 30.3 SMARCB1 NF2 NF1 LZTR1
15 neurofibroma 30.3 SPRED1 SOX10 NF2 NF1
16 plexiform schwannoma 30.2 SOX10 SMARCB1 NF2 NF1 LZTR1
17 legius syndrome 30.2 SPRED1 NF1
18 epithelioid malignant peripheral nerve sheath tumor 30.1 SOX10 SMARCB1 SMARCA4 NF1
19 atypical teratoid rhabdoid tumor 30.1 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
20 plexiform neurofibroma 29.9 SPRED1 SOX10 SMARCB1 NF2 NF1 LZTR1
21 noonan syndrome 1 29.8 SPRED1 SOX10 NF1 LZTR1 CUL3 ARID1B
22 renal cell carcinoma, papillary, 1 29.8 SMARCB1 NF2 CUL3
23 meningioma, familial 29.7 SPRED1 SOX10 SMARCE1 SMARCB1 SMARCA4 NF2
24 rhabdoid cancer 29.7 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
25 coffin-siris syndrome 1 29.7 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
26 schwannomatosis 2 11.6
27 mosaic nf2-related schwannomatosis 11.0
28 neurofibromatosis, type iii, mixed central and peripheral 11.0
29 neurofibromatosis/schwannomatosis 11.0
30 mosaic schwannomatosis 11.0
31 epithelioid neurofibroma 10.4 NF2 NF1
32 optic nerve astrocytoma 10.4 SMARCB1 NF1
33 pineal region meningioma 10.4 SMARCB1 NF2
34 sphenoorbital meningioma 10.4 SMARCE1 NF2
35 cerebellopontine angle meningioma 10.4 SMARCE1 NF2
36 cavernous sinus meningioma 10.4 SMARCE1 NF2
37 microcystic meningioma 10.4 SMARCE1 NF2
38 intraventricular meningioma 10.4 SMARCE1 NF2
39 small intestine leiomyoma 10.4 NF2 NF1
40 trigeminal nerve neoplasm 10.4 NF2 NF1
41 cerebellopontine angle tumor 10.4 SMARCB1 NF2
42 angiomatous meningioma 10.4 SMARCE1 NF2
43 spinal cord astrocytoma 10.4 NF2 NF1
44 childhood meningioma 10.4 SMARCE1 SMARCB1 NF2
45 cerebral falx meningioma 10.4 SMARCE1 SMARCB1 NF2
46 parasagittal meningioma 10.4 SMARCE1 SMARCB1 NF2
47 posterior pituitary gland neoplasm 10.4 SMARCB1 SMARCA4 NF2
48 epidural spinal canal neoplasm 10.4 NF2 NF1
49 cerebral convexity meningioma 10.4 SMARCE1 SMARCB1 NF2
50 chordoid meningioma 10.4 SMARCB1 NF2

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.32 ARID1A BANF1 SMARCA4 SMARCB1 SMARCC1 SMARCE1
2 Increased Nanog expression GR00371-A-2 9.32 SMARCE1
3 Increased Nanog expression GR00371-A-3 9.32 ARID1A
4 Increased Nanog expression GR00371-A-5 9.32 ARID1A BANF1
5 Increased proliferation GR00094-A 8.96 NF2 SMARCB1

MGI Mouse Phenotypes related to Neurilemmomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.18 ARID1A ARID1B COQ6 CUL3 NF1 NF2
2 growth/size/body region MP:0005378 10.13 ARID1A ARID1B COQ6 CUL3 LZTR1 NF1
3 neoplasm MP:0002006 9.98 ARID1A NF1 NF2 SMARCA2 SMARCA4 SMARCB1
4 muscle MP:0005369 9.97 ARID1A ARID1B CUL3 LZTR1 NF1 SMARCA2
5 embryo MP:0005380 9.96 ARID1A COQ6 CUL3 NF1 NF2 SMARCA4
6 cellular MP:0005384 9.93 ARID1A COQ6 CUL3 DCAF1 LZTR1 NF1
7 mortality/aging MP:0010768 9.89 ARID1A ARID1B CABIN1 COQ6 CUL3 DCAF1
8 pigmentation MP:0001186 9.85 NF1 NF2 SMARCA4 SMARCC1 SOX10
9 integument MP:0010771 9.28 ARID1B COQ6 NF1 NF2 SMARCA2 SMARCA4

Drugs & Therapeutics for Neurilemmomatosis

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tanezumab Investigational Phase 2 880266-57-9
2 Analgesics Phase 2
3 Immunoglobulins Phase 2
4 Antibodies Phase 2
5 Mitogens Phase 2
6
Lysine Approved, Nutraceutical 56-87-1 5962

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
2 A Phase 2 Randomized, Double-blind, Placebo-Controlled Study of the Analgesic Efficacy and Safety of the Subcutaneous Administration of the Anti-NGF Antibody Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis Active, not recruiting NCT04163419 Phase 2 Tanezumab;Placebo
3 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
4 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
5 Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation Recruiting NCT01885767
6 Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing Recruiting NCT03406208
7 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

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 28 LZTR1 SMARCB1

Anatomical Context for Neurilemmomatosis

Organs/tissues related to Neurilemmomatosis:

MalaCards : Small Intestine, Spinal Cord, Lymph Node, Brain, Tongue, Prostate, Colon

Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show top 50) (show all 581)
# Title Authors PMID Year
1
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. 53 62 24 5
18285426 2008
2
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. 62 24 5
27921248 2017
3
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 62 24 5
24362817 2014
4
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. 62 24 5
22434358 2012
5
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 62 24 5
22038540 2012
6
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 62 24 5
20930055 2011
7
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 62 24 5
19582488 2010
8
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 62 24 5
19124645 2009
9
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 62 24 5
18072270 2008
10
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. 53 62 5
9399891 1997
11
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 62 5
30481304 2019
12
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. 62 5
29409008 2018
13
Pain correlates with germline mutation in schwannomatosis. 62 5
29384852 2018
14
Germline mutation of INI1/SMARCB1 in familial schwannomatosis. 62 5
17357086 2007
15
Neurofibromatosis 2 and neurilemmomatosis gene are identical. 62 5
7798645 1995
16
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 5
31219622 2019
17
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 5
30368668 2019
18
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 5
30442762 2018
19
LZTR1 is a regulator of RAS ubiquitination and signaling. 5
30442766 2018
20
Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. 62 24
28295212 2017
21
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. 62 24
28620005 2017
22
Creation of an international registry to support discovery in schwannomatosis. 62 24
27759912 2017
23
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. 62 24
27856782 2017
24
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. 62 24
27472264 2016
25
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells. 62 24
26799435 2016
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. 62 24
26407091 2016
27
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 62 24
26364901 2015
28
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 62 24
25335493 2015
29
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 5
25795793 2015
30
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
31
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. 62 24
25480913 2015
32
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. 62 24
25008767 2014
33
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. 62 24
24933152 2014
34
Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. 62 24
24664633 2014
35
Schwannomatosis: the overlooked neurofibromatosis? 62 24
23701098 2013
36
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 62 24
23401320 2013
37
Malignant peripheral nerve sheath tumours in inherited disease. 62 24
23036231 2012
38
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. 62 24
22752724 2012
39
Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. 62 24
22558206 2012
40
Clinical features of schwannomatosis: a retrospective analysis of 87 patients. 62 24
22927469 2012
41
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. 62 24
22082606 2012
42
Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article. 62 24
20932094 2011
43
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. 62 24
21255467 2011
44
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. 62 24
21108436 2011
45
Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. 62 24
20729918 2010
46
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. 62 24
19912265 2010
47
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 62 24
18647326 2008
48
Diagnostic criteria for schwannomatosis. 62 24
15955931 2005
49
Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. 62 24
10636128 2000
50
Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. 5
9605590 1998

Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

5 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCB1 NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) SNV Pathogenic
8026 rs74315513 GRCh37: 22:24129390-24129390
GRCh38: 22:23787203-23787203
2 SMARCB1 NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) INDEL Pathogenic
8028 rs587776679 GRCh37: 22:24134052-24134065
GRCh38: 22:23791865-23791878
3 SMARCB1 NM_003073.5(SMARCB1):c.629-361_795+2103dup DUP Pathogenic
8030 GRCh37: 22:24158592-24158593
GRCh38: 22:23816405-23816406
4 SMARCB1 NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) SNV Pathogenic
8031 rs267607072 GRCh37: 22:24129448-24129448
GRCh38: 22:23787261-23787261
5 SMARCB1 NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) SNV Pathogenic
30202 rs387906811 GRCh37: 22:24133992-24133992
GRCh38: 22:23791805-23791805
6 NF2 NM_000268.4(NF2):c.363+1G>A SNV Pathogenic
635372 rs1601583839 GRCh37: 22:30035202-30035202
GRCh38: 22:29639213-29639213
7 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) SNV Pathogenic
410703 rs1060503016 GRCh37: 22:24134001-24134001
GRCh38: 22:23791814-23791814
8 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) DEL Pathogenic
410704 rs1060503017 GRCh37: 22:24167585-24167592
GRCh38: 22:23825398-23825405
9 SMARCB1 NM_003073.5(SMARCB1):c.500+883T>G SNV Pathogenic
1192514 GRCh37: 22:24144151-24144151
GRCh38: 22:23801964-23801964
10 SMARCB1 NM_003073.5(SMARCB1):c.500+887G>A SNV Pathogenic
1192515 GRCh37: 22:24144155-24144155
GRCh38: 22:23801968-23801968
11 SMARCB1 NM_003073.5(SMARCB1):c.233-2_237del DEL Pathogenic
8029 GRCh37: 22:24135742-24135748
GRCh38: 22:23793555-23793561
12 SMARCB1 NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter) SNV Pathogenic
1076272 GRCh37: 22:24143132-24143132
GRCh38: 22:23800945-23800945
13 NF2 NM_000268.4(NF2):c.205_211del (p.Lys69fs) DEL Pathogenic
3300 rs587776565 GRCh37: 22:30032830-30032836
GRCh38: 22:29636841-29636847
14 NF2 NM_000268.4(NF2):c.125_126insG (p.Gly43fs) INSERT Pathogenic
3299 rs587776564 GRCh37: 22:30032750-30032751
GRCh38: 22:29636761-29636762
15 NF2 NC_000022.11:g.(29668447_29671826)_(29681601_?)del DEL Pathogenic
3298 GRCh37:
GRCh38: 22:29668447-29681601
16 SMARCB1 NM_003073.5(SMARCB1):c.747dup (p.Thr250fs) DUP Pathogenic
1686219 GRCh37: 22:24159071-24159072
GRCh38: 22:23816884-23816885
17 SMARCB1 NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs) DEL Pathogenic
1686218 GRCh37: 22:24135818-24135857
GRCh38: 22:23793631-23793670
18 LZTR1 NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) SNV Likely Pathogenic
289969 rs189150283 GRCh37: 22:21346593-21346593
GRCh38: 22:20992304-20992304
19 SMARCB1 NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) SNV Likely Pathogenic
825898 rs1601405064 GRCh37: 22:24145549-24145549
GRCh38: 22:23803362-23803362
20 LZTR1 NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) SNV Likely Pathogenic
101038 rs587777180 GRCh37: 22:21348256-21348256
GRCh38: 22:20993967-20993967
21 LZTR1 NM_006767.4(LZTR1):c.372_385del (p.Val125fs) DEL Likely Pathogenic
917601 rs1924439391 GRCh37: 22:21341844-21341857
GRCh38: 22:20987555-20987568
22 SMARCB1 NM_003073.5(SMARCB1):c.-83C>T SNV Uncertain Significance
903043 rs1374186002 GRCh37: 22:24129274-24129274
GRCh38: 22:23787087-23787087
23 SMARCB1 NM_003073.5(SMARCB1):c.1118+8T>C SNV Uncertain Significance
902212 rs2030796889 GRCh37: 22:24175898-24175898
GRCh38: 22:23833711-23833711
24 SMARCB1 NM_003073.5(SMARCB1):c.*307A>G SNV Uncertain Significance
900606 rs2030874248 GRCh37: 22:24176674-24176674
GRCh38: 22:23834487-23834487
25 SMARCB1 NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) SNV Uncertain Significance
900547 rs1930218305 GRCh37: 22:24158961-24158961
GRCh38: 22:23816774-23816774
26 SMARCB1 NM_003073.5(SMARCB1):c.*197A>C SNV Uncertain Significance
899472 rs1306414841 GRCh37: 22:24176564-24176564
GRCh38: 22:23834377-23834377
27 SMARCB1 NM_003073.5(SMARCB1):c.*159C>G SNV Uncertain Significance
899471 rs1022324232 GRCh37: 22:24176526-24176526
GRCh38: 22:23834339-23834339
28 SMARCB1 NM_003073.5(SMARCB1):c.*113C>T SNV Uncertain Significance
340920 rs886057286 GRCh37: 22:24176480-24176480
GRCh38: 22:23834293-23834293
29 NF2 NM_000268.4(NF2):c.1232G>A (p.Arg411His) SNV Uncertain Significance
527695 rs201214090 GRCh37: 22:30069367-30069367
GRCh38: 22:29673378-29673378
30 NF2 NM_000268.4(NF2):c.215T>C (p.Val72Ala) SNV Uncertain Significance
569354 rs1260510937 GRCh37: 22:30032840-30032840
GRCh38: 22:29636851-29636851
31 NF2 NM_000268.4(NF2):c.4G>T (p.Ala2Ser) SNV Uncertain Significance
638486 rs1601515682 GRCh37: 22:29999991-29999991
GRCh38: 22:29604002-29604002
32 SMARCB1 NM_003073.5(SMARCB1):c.*100C>G SNV Uncertain Significance
903097 rs1363655817 GRCh37: 22:24176467-24176467
GRCh38: 22:23834280-23834280
33 SMARCB1 NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu) SNV Uncertain Significance
410701 rs887245809 GRCh37: 22:24159118-24159118
GRCh38: 22:23816931-23816931
34 SMARCB1 NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val) SNV Uncertain Significance
410708 rs1060503019 GRCh37: 22:24159041-24159041
GRCh38: 22:23816854-23816854
35 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) SNV Uncertain Significance
340912 rs762962010 GRCh37: 22:24145588-24145588
GRCh38: 22:23803401-23803401
36 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) SNV Uncertain Significance
340914 rs752910574 GRCh37: 22:24159051-24159051
GRCh38: 22:23816864-23816864
37 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>C SNV Uncertain Significance
340915 rs745773662 GRCh37: 22:24175755-24175755
GRCh38: 22:23833568-23833568
38 SMARCB1 NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) SNV Uncertain Significance
198489 rs769322487 GRCh37: 22:24167504-24167504
GRCh38: 22:23825317-23825317
39 NF2 NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) SNV Uncertain Significance
565467 rs774824164 GRCh37: 22:30077472-30077472
GRCh38: 22:29681483-29681483
40 NF2 NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) SNV Uncertain Significance
457904 rs1049732514 GRCh37: 22:30077554-30077554
GRCh38: 22:29681565-29681565
41 SMARCB1 NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) SNV Uncertain Significance
410706 rs779769475 GRCh37: 22:24134007-24134007
GRCh38: 22:23791820-23791820
42 SMARCB1 NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) SNV Uncertain Significance
532975 rs145695677 GRCh37: 22:24135822-24135822
GRCh38: 22:23793635-23793635
43 SMARCB1 and overlap with 1 gene(s) NM_003073.4(SMARCB1):c.987-?_*338dup510 DUP Uncertain Significance
239486 GRCh37: 22:24175759-24176705
GRCh38: 22:23833572-23834518
44 overlap with 2 genes NM_003073.4(SMARCB1):c.-207-?_*338dup1703 DUP Uncertain Significance
239480 GRCh37: 22:24129150-24176705
GRCh38: 22:23786963-23834518
45 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dup DUP Uncertain Significance
340916 rs779825754 GRCh37: 22:24176376-24176377
GRCh38: 22:23834189-23834190
46 SMARCB1 NM_003073.5(SMARCB1):c.-149C>T SNV Uncertain Significance
340906 rs886057282 GRCh37: 22:24129208-24129208
GRCh38: 22:23787021-23787021
47 SMARCB1 NM_003073.5(SMARCB1):c.-148T>C SNV Uncertain Significance
340907 rs886057283 GRCh37: 22:24129209-24129209
GRCh38: 22:23787022-23787022
48 SMARCB1 NM_003073.5(SMARCB1):c.*279G>A SNV Uncertain Significance
340921 rs886057287 GRCh37: 22:24176646-24176646
GRCh38: 22:23834459-23834459
49 SMARCB1 NM_003073.5(SMARCB1):c.-107A>G SNV Uncertain Significance
340910 rs886057284 GRCh37: 22:24129250-24129250
GRCh38: 22:23787063-23787063
50 SMARCB1 NM_003073.5(SMARCB1):c.-157G>A SNV Uncertain Significance
340905 rs886057281 GRCh37: 22:24129200-24129200
GRCh38: 22:23787013-23787013

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
2
Show member pathways
12.87 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
3 12.32 ARID1A CABIN1 SMARCA2 SMARCA4 SMARCB1 SMARCC1
4
Show member pathways
12.09 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
5
Show member pathways
11.91 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6
Show member pathways
11.72 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
7 11.59 SMARCC2 SMARCC1 SMARCA4
8 11.48 SMARCE1 SMARCA2 ARID1A
9
Show member pathways
11.4 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
10 11.36 SMARCE1 SMARCC1 SMARCA2
11
Show member pathways
11.23 ARID1A ARID1B SMARCA4 SMARCB1 SMARCC1 SMARCC2
12 10.83 SMARCE1 SMARCB1 SMARCA4
13 10.81 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2

GO Terms for Neurilemmomatosis

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.7 ARID1A ARID1B BANF1 CABIN1 CUL3 DCAF1
2 chromatin GO:0000785 10.52 ARID1A ARID1B BANF1 PHF10 SMARCA2 SMARCA4
3 npBAF complex GO:0071564 10.28 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
4 kinetochore GO:0000776 10.27 PHF10 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCE1
5 nuclear matrix GO:0016363 10.23 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
6 RSC-type complex GO:0016586 10.21 PHF10 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCE1
7 brahma complex GO:0035060 10.21 ARID1A ARID1B SMARCA2 SMARCB1 SMARCC1 SMARCC2
8 SWI/SNF complex GO:0016514 10.21 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
9 nBAF complex GO:0071565 10.06 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC1
10 Cul3-RING ubiquitin ligase complex GO:0031463 10.02 LZTR1 KLHL2 CUL3
11 GBAF complex GO:0140288 9.99 SMARCC1 SMARCA4 SMARCA2
12 SWI/SNF superfamily-type complex GO:0070603 9.8 SMARCB1 SMARCA4 SMARCA2 ARID1B ARID1A
13 chromosomal region GO:0098687 9.54 SMARCC2 SMARCC1
14 DNA packaging complex GO:0044815 9.5 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC1
15 bBAF complex GO:0140092 9.47 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.57 SOX10 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
2 positive regulation of DNA-templated transcription GO:0045893 10.46 ARID1A ARID1B SMARCA2 SMARCA4 SMARCC1 SMARCC2
3 chromatin remodeling GO:0006338 10.46 ARID1A ARID1B PHF10 SMARCA2 SMARCA4 SMARCB1
4 nervous system development GO:0007399 10.45 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
5 regulation of mitotic metaphase/anaphase transition GO:0030071 10.39 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
6 positive regulation of T cell differentiation GO:0045582 10.36 ARID1A ARID1B PHF10 SMARCA2 SMARCA4 SMARCB1
7 positive regulation of stem cell population maintenance GO:1902459 10.34 ARID1A PHF10 SMARCA2 SMARCA4 SMARCB1 SMARCC1
8 positive regulation of myoblast differentiation GO:0045663 10.32 ARID1A ARID1B PHF10 SMARCA2 SMARCA4 SMARCB1
9 positive regulation of cell differentiation GO:0045597 10.32 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
10 chromatin organization GO:0006325 10.27 ARID1A ARID1B BANF1 CABIN1 DCAF1 SMARCA2
11 nucleosome disassembly GO:0006337 10.26 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1A
12 regulation of nucleotide-excision repair GO:2000819 10.21 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
13 positive regulation of double-strand break repair GO:2000781 10.11 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
14 negative regulation of cell differentiation GO:0045596 10.09 SMARCC1 SMARCA4 SMARCA2
15 negative regulation of MAPK cascade GO:0043409 10.08 SPRED1 NF2 NF1
16 negative regulation of Schwann cell proliferation GO:0010626 10.01 NF1 NF2 SOX10
17 RNA polymerase I preinitiation complex assembly GO:0001188 9.92 SMARCB1 SMARCA4
18 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.92 SMARCB1 SMARCA4
19 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.91 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
20 positive regulation of glucose mediated signaling pathway GO:1902661 9.88 SMARCB1 SMARCA4
21 Schwann cell proliferation GO:0014010 9.87 NF2 NF1
22 positive regulation of response to stimulus GO:0048584 9.61 SMARCC2 SMARCC1
23 positive regulation of DNA metabolic process GO:0051054 9.59 SMARCC2 SMARCC1
24 regulation of multicellular organismal development GO:2000026 9.58 SMARCC2 SMARCC1
25 regulation of G0 to G1 transition GO:0070316 9.58 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2

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

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.92 SMARCE1 SMARCC1 SMARCA4 BANF1
2 histone binding GO:0042393 9.81 PHF10 SMARCA2 SMARCA4 SMARCC1 SMARCC2
3 nucleosome binding GO:0031491 9.73 CABIN1 ARID1B ARID1A
4 Tat protein binding GO:0030957 9.71 SMARCB1 SMARCA4
5 RNA polymerase I core promoter sequence-specific DNA binding GO:0001164 9.67 SMARCB1 SMARCA4
6 nucleosomal DNA binding GO:0031492 9.65 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
7 transcription coactivator activity GO:0003713 9.53 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2

Sources for Neurilemmomatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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