NF3
MCID: NRL002
MIFTS: 52

Neurilemmomatosis (NF3)

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

Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis 12 43 58 15
Schwannomatosis 12 73 25 20 43 58 29 54 6 44 39 70
Neurofibromatosis Type 3 20 43 58
Neurilemmomatosis Congenital Cutaneous 20 6
Neurinomatosis 43 70
Nf3 20 58
Neurilemmomatosis, Congenital Cutaneous 43
Congenital Cutaneous Neurilemmomatosis 20
Multiple Neurilemmomas 43
Multiple Schwannomas 43
Neurofibromatosis 3 70
Schwannomatosis 1 70

Characteristics:

Orphanet epidemiological data:

58
schwannomatosis
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: Not yet documented;

GeneReviews:

25
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:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:3204
ICD9CM 34 237.73
MeSH 44 C536641
NCIt 50 C6557
SNOMED-CT 67 781641005
ICD10 32 Q85.03
MESH via Orphanet 45 C536641
ICD10 via Orphanet 33 Q85.0
UMLS via Orphanet 71 C0917817 C1335929 C2931480
Orphanet 58 ORPHA93921
UMLS 70 C0334614 C0917817 C1335929 more

Summaries for Neurilemmomatosis

MedlinePlus Genetics : 43 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 meningioma, familial. 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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Tanezumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, small intestine and heart, and related phenotypes are Increased Nanog expression and Increased Nanog expression

GARD : 20 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.

Wikipedia : 73 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 179)
# Related Disease Score Top Affiliating Genes
1 schwannomatosis 1 32.7 SMARCB1 NF2 LZTR1
2 meningioma, familial 31.7 SPRED1 SMARCE1 SMARCB1 NF2 NF1 DCAF1
3 neurofibromatosis, type i 31.7 SPRED1 NF2 NF1
4 acoustic neuroma 31.1 NF2 NF1 LZTR1
5 neurofibromatosis 30.8 SPRED1 NF2 NF1
6 neurilemmoma 30.8 SMARCB1 NF2 NF1 LZTR1
7 secretory meningioma 30.7 SMARCE1 SMARCB1 NF2
8 rasopathy 30.5 SPRED1 NF2 NF1 LZTR1
9 plexiform schwannoma 30.5 SMARCB1 NF2 NF1
10 monosomy 22 30.4 SMARCB1 NF2
11 neuroma 30.4 SMARCB1 NF2 NF1
12 neurilemmoma of the fifth cranial nerve 30.3 NF2 NF1 LZTR1
13 plexiform neurofibroma 30.2 SPRED1 NF2 NF1
14 epithelioid malignant peripheral nerve sheath tumor 30.2 SMARCB1 NF1
15 coffin-siris syndrome 3 30.2 SMARCE1 SMARCB1 ARID2
16 atypical teratoid rhabdoid tumor 30.2 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 NF2
17 coffin-siris syndrome 1 30.0 SMARCE1 SMARCC2 SMARCB1 SMARCA4 BANF1 ARID2
18 rhabdoid cancer 29.4 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
19 schwannomatosis 2 11.6
20 neurofibromatosis, type iii, mixed central and peripheral 11.1
21 optic nerve astrocytoma 10.5 SMARCB1 NF1
22 epithelioid neurofibroma 10.5 NF2 NF1
23 cellular neurofibroma 10.5 SMARCB1 NF1
24 mn1 c-terminal truncation syndrome 10.5 SMARCE1 NF2
25 cerebral falx meningioma 10.4 NF2 NF1
26 olfactory groove meningioma 10.4 NF2 LZTR1
27 anterior cranial fossa meningioma 10.4 NF2 LZTR1
28 spinal canal intradural extramedullary neoplasm 10.4 NF2 DCAF1
29 small intestine leiomyoma 10.4 NF2 NF1
30 melanotic neurilemmoma 10.4 SMARCB1 NF2
31 polyp of corpus uteri 10.4 NF2 NF1
32 angiomatous meningioma 10.4 SMARCE1 NF2
33 trigeminal nerve neoplasm 10.4 NF2 NF1 LZTR1
34 schwannoma of twelfth cranial nerve 10.4 SMARCB1 NF2 NF1
35 adult malignant schwannoma 10.4 NF2 NF1
36 hypoglossal nerve disease 10.4 SMARCB1 NF2 NF1
37 cellular schwannoma 10.4 SMARCB1 NF2 NF1
38 orbital cancer 10.4 NF2 NF1
39 corpus callosum lipoma 10.4 SMARCB1 NF2 NF1
40 cerebral hemisphere lipoma 10.4 SMARCB1 NF2 NF1
41 meningioma, radiation-induced 10.4 SMARCE1 SMARCB1 NF2
42 intraorbital meningioma 10.4 NF2 LZTR1 DCAF1
43 skull base cancer 10.4 SMARCE1 NF2
44 clear cell meningioma 10.4 SMARCE1 SMARCB1 NF2
45 juvenile type testicular granulosa cell tumor 10.4 SMARCB1 SMARCA4
46 testicular granulosa cell tumor 10.4 SMARCB1 SMARCA4
47 skull base meningioma 10.4 SMARCE1 NF2
48 transitional meningioma 10.4 SMARCE1 NF2
49 rhabdoid meningioma 10.4 SMARCB1 NF2
50 meningothelial meningioma 10.4 SMARCE1 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.65 ARID1A BANF1 SMARCA4 SMARCB1 SMARCC1 SMARCE1
2 Increased Nanog expression GR00371-A-2 9.65 SMARCE1
3 Increased Nanog expression GR00371-A-3 9.65 ARID1A
4 Increased Nanog expression GR00371-A-5 9.65 ARID1A BANF1
5 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Neurilemmomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.93 ARID1A ARID1B ARID2 CABIN1 NF1 NF2
2 embryo MP:0005380 9.91 ARID1A COQ6 NF1 NF2 PBRM1 SMARCA4
3 craniofacial MP:0005382 9.87 ARID1A ARID1B LZTR1 NF1 NF2 SMARCA4
4 mortality/aging MP:0010768 9.86 ARID1A ARID1B ARID2 CABIN1 COQ6 DCAF1
5 muscle MP:0005369 9.17 ARID1A ARID1B ARID2 LZTR1 NF1 SMARCA4

Drugs & Therapeutics for Neurilemmomatosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tanezumab Investigational Phase 2 880266-57-9
2 Immunoglobulins Phase 2
3 Mitogens Phase 2
4 Analgesics Phase 2
5 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Recruiting NCT04163419 Phase 2 Tanezumab;Placebo
2 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
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

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:

40
Spinal Cord, Small Intestine, Heart, Lymph Node, Tongue, Spleen, Brain

Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show top 50) (show all 408)
# Title Authors PMID Year
1
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. 61 6 54 25
18285426 2008
2
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. 6 25 61
27921248 2017
3
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 25 61 6
24362817 2014
4
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. 61 25 6
22038540 2012
5
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. 61 25 6
20930055 2011
6
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. 61 6 25
19582488 2010
7
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. 25 61 6
19124645 2009
8
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 61 25 6
18072270 2008
9
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. 6 61 54
9399891 1997
10
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 61 6
30481304 2019
11
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. 61 6
29409008 2018
12
Pain correlates with germline mutation in schwannomatosis. 6 61
29384852 2018
13
Germline mutation of INI1/SMARCB1 in familial schwannomatosis. 61 6
17357086 2007
14
Neurofibromatosis 2 and neurilemmomatosis gene are identical. 6 61
7798645 1995
15
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 6
31219622 2019
16
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 6
30368668 2019
17
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 6
30442762 2018
18
LZTR1 is a regulator of RAS ubiquitination and signaling. 6
30442766 2018
19
Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. 61 25
28295212 2017
20
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. 61 25
28620005 2017
21
Creation of an international registry to support discovery in schwannomatosis. 25 61
27759912 2017
22
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. 61 25
27856782 2017
23
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. 61 25
27472264 2016
24
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells. 25 61
26799435 2016
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. 61 25
26407091 2016
26
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 25 61
26364901 2015
27
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 61 25
25335493 2015
28
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 6
25795793 2015
29
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. 25 61
25480913 2015
30
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. 25 61
24933152 2014
31
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. 61 25
25008767 2014
32
Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. 61 25
24664633 2014
33
Schwannomatosis: the overlooked neurofibromatosis? 25 61
23701098 2013
34
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 25 61
23401320 2013
35
Malignant peripheral nerve sheath tumours in inherited disease. 61 25
23036231 2012
36
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas. 61 25
22752724 2012
37
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. 25 61
22434358 2012
38
Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. 25 61
22558206 2012
39
Clinical features of schwannomatosis: a retrospective analysis of 87 patients. 61 25
22927469 2012
40
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. 25 61
22082606 2012
41
Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article. 61 25
20932094 2011
42
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. 25 61
21255467 2011
43
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. 25 61
21108436 2011
44
Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. 25 61
20729918 2010
45
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. 25 61
19912265 2010
46
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 25 61
18647326 2008
47
Diagnostic criteria for schwannomatosis. 25 61
15955931 2005
48
Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. 61 25
10636128 2000
49
The integrated landscape of driver genomic alterations in glioblastoma. 25
23917401 2013
50
SNF5 reexpression in malignant rhabdoid tumors regulates transcription of target genes by recruitment of SWI/SNF complexes and RNAPII to the transcription start site of their promoters. 25
23364536 2013

Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF2 NC_000022.11:g.(29668447_29671826)_(29681601_?)del Deletion Pathogenic 3298 GRCh37:
GRCh38: 22:29668447-29681601
2 NF2 NM_000268.4(NF2):c.125_126insG (p.Gly43fs) Insertion Pathogenic 3299 rs587776564 GRCh37: 22:30032750-30032751
GRCh38: 22:29636761-29636762
3 NF2 NM_000268.4(NF2):c.205_211del (p.Lys69fs) Deletion Pathogenic 3300 rs587776565 GRCh37: 22:30032830-30032836
GRCh38: 22:29636841-29636847
4 SMARCB1 NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) SNV Pathogenic 8026 rs74315513 GRCh37: 22:24129390-24129390
GRCh38: 22:23787203-23787203
5 SMARCB1 NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) Indel Pathogenic 8028 rs587776679 GRCh37: 22:24134052-24134065
GRCh38: 22:23791865-23791878
6 SMARCB1 SMARCB1, 7-BP DEL, NT233 Deletion Pathogenic 8029 GRCh37:
GRCh38:
7 SMARCB1 NM_003073.5(SMARCB1):c.629-361_795+2103dup Duplication Pathogenic 8030 GRCh37: 22:24158592-24158593
GRCh38: 22:23816405-23816406
8 SMARCB1 NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) SNV Pathogenic 8031 rs267607072 GRCh37: 22:24129448-24129448
GRCh38: 22:23787261-23787261
9 SMARCB1 NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) SNV Pathogenic 30202 rs387906811 GRCh37: 22:24133992-24133992
GRCh38: 22:23791805-23791805
10 LZTR1 NM_006767.4(LZTR1):c.264-13G>A SNV Pathogenic 101034 rs587777176 GRCh37: 22:21340117-21340117
GRCh38: 22:20985828-20985828
11 LZTR1 NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) SNV Pathogenic 101035 rs587777177 GRCh37: 22:21341837-21341837
GRCh38: 22:20987548-20987548
12 LZTR1 NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) Deletion Pathogenic 101037 rs587777179 GRCh37: 22:21351196-21351199
GRCh38: 22:20996907-20996910
13 LZTR1 NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) SNV Pathogenic 101038 rs587777180 GRCh37: 22:21348256-21348256
GRCh38: 22:20993967-20993967
14 LZTR1 NM_006767.4(LZTR1):c.27del (p.Gln10fs) Deletion Pathogenic 143931 rs587777613 GRCh37: 22:21336681-21336681
GRCh38: 22:20982392-20982392
15 SMARCB1 NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) SNV Pathogenic 410703 rs1060503016 GRCh37: 22:24134001-24134001
GRCh38: 22:23791814-23791814
16 SMARCB1 NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) Deletion Pathogenic 410704 rs1060503017 GRCh37: 22:24167585-24167592
GRCh38: 22:23825398-23825405
17 LZTR1 NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) SNV Pathogenic 209089 rs797045165 GRCh37: 22:21345975-21345975
GRCh38: 22:20991686-20991686
18 LZTR1 NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) SNV Pathogenic 289969 rs189150283 GRCh37: 22:21346593-21346593
GRCh38: 22:20992304-20992304
19 SMARCB1 NM_003073.5(SMARCB1):c.*82C>T SNV Pathogenic 239481 rs878854600 GRCh37: 22:24176449-24176449
GRCh38: 22:23834262-23834262
20 LZTR1 NM_006767.4(LZTR1):c.320+1del Deletion Pathogenic 634827 rs1569153870 GRCh37: 22:21340186-21340186
GRCh38: 22:20985897-20985897
21 LZTR1 NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter) SNV Pathogenic 634828 rs1569154722 GRCh37: 22:21342384-21342384
GRCh38: 22:20988095-20988095
22 LZTR1 NM_006767.4(LZTR1):c.401-2_401-1del Deletion Pathogenic 930614 GRCh37: 22:21342297-21342298
GRCh38: 22:20988008-20988009
23 LZTR1 NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) SNV Pathogenic 488877 rs149850248 GRCh37: 22:21346527-21346527
GRCh38: 22:20992238-20992238
24 LZTR1 NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) SNV Likely pathogenic 101038 rs587777180 GRCh37: 22:21348256-21348256
GRCh38: 22:20993967-20993967
25 SMARCB1 NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) SNV Likely pathogenic 825898 rs1601405064 GRCh37: 22:24145549-24145549
GRCh38: 22:23803362-23803362
26 LZTR1 NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) SNV Likely pathogenic 561963 rs781776791 GRCh37: 22:21349262-21349262
GRCh38: 22:20994973-20994973
27 LZTR1 NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) SNV Likely pathogenic 289969 rs189150283 GRCh37: 22:21346593-21346593
GRCh38: 22:20992304-20992304
28 LZTR1 NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs) Microsatellite Likely pathogenic 930572 GRCh37: 22:21348493-21348494
GRCh38: 22:20994204-20994205
29 LZTR1 NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) SNV Likely pathogenic 209088 rs869320686 GRCh37: 22:21344765-21344765
GRCh38: 22:20990476-20990476
30 LZTR1 NM_006767.4(LZTR1):c.372_385del (p.Val125fs) Deletion Likely pathogenic 917601 GRCh37: 22:21341844-21341857
GRCh38: 22:20987555-20987568
31 LZTR1 NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) SNV Likely pathogenic 101036 rs587777178 GRCh37: 22:21350154-21350154
GRCh38: 22:20995865-20995865
32 SMARCB1 and overlap with 1 gene(s) NM_003073.4(SMARCB1):c.987-?_*338dup510 Duplication Uncertain significance 239486 GRCh37: 22:24175759-24176705
GRCh38: 22:23833572-23834518
33 overlap with 2 genes NM_003073.4(SMARCB1):c.-207-?_*338dup1703 Duplication Uncertain significance 239480 GRCh37: 22:24129150-24176705
GRCh38: 22:23786963-23834518
34 SMARCB1 NM_003073.5(SMARCB1):c.*279G>A SNV Uncertain significance 340921 rs886057287 GRCh37: 22:24176646-24176646
GRCh38: 22:23834459-23834459
35 SMARCB1 NM_003073.5(SMARCB1):c.-107A>G SNV Uncertain significance 340910 rs886057284 GRCh37: 22:24129250-24129250
GRCh38: 22:23787063-23787063
36 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) SNV Uncertain significance 340912 rs762962010 GRCh37: 22:24145588-24145588
GRCh38: 22:23803401-23803401
37 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) SNV Uncertain significance 340914 rs752910574 GRCh37: 22:24159051-24159051
GRCh38: 22:23816864-23816864
38 SMARCB1 NM_003073.5(SMARCB1):c.*113C>T SNV Uncertain significance 340920 rs886057286 GRCh37: 22:24176480-24176480
GRCh38: 22:23834293-23834293
39 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dup Duplication Uncertain significance 340916 rs779825754 GRCh37: 22:24176376-24176377
GRCh38: 22:23834189-23834190
40 SMARCB1 NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) SNV Uncertain significance 198489 rs769322487 GRCh37: 22:24167504-24167504
GRCh38: 22:23825317-23825317
41 SMARCB1 NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu) SNV Uncertain significance 410701 rs887245809 GRCh37: 22:24159118-24159118
GRCh38: 22:23816931-23816931
42 SMARCB1 NM_003073.5(SMARCB1):c.-157G>A SNV Uncertain significance 340905 rs886057281 GRCh37: 22:24129200-24129200
GRCh38: 22:23787013-23787013
43 SMARCB1 NM_003073.5(SMARCB1):c.-149C>T SNV Uncertain significance 340906 rs886057282 GRCh37: 22:24129208-24129208
GRCh38: 22:23787021-23787021
44 SMARCB1 NM_003073.5(SMARCB1):c.-148T>C SNV Uncertain significance 340907 rs886057283 GRCh37: 22:24129209-24129209
GRCh38: 22:23787022-23787022
45 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>C SNV Uncertain significance 340915 rs745773662 GRCh37: 22:24175755-24175755
GRCh38: 22:23833568-23833568
46 NF2 NM_000268.4(NF2):c.4G>T (p.Ala2Ser) SNV Uncertain significance 638486 rs1601515682 GRCh37: 22:29999991-29999991
GRCh38: 22:29604002-29604002
47 SMARCB1 NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) SNV Uncertain significance 532975 rs145695677 GRCh37: 22:24135822-24135822
GRCh38: 22:23793635-23793635
48 LZTR1 NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) SNV Uncertain significance 373089 rs747430075 GRCh37: 22:21347167-21347167
GRCh38: 22:20992878-20992878
49 NF2 NM_000268.4(NF2):c.215T>C (p.Val72Ala) SNV Uncertain significance 569354 rs1260510937 GRCh37: 22:30032840-30032840
GRCh38: 22:29636851-29636851
50 NF2 NM_000268.4(NF2):c.1232G>A (p.Arg411His) SNV Uncertain significance 527695 rs201214090 GRCh37: 22:30069367-30069367
GRCh38: 22:29673378-29673378

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
13.56 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
2
Show member pathways
13.14 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 DPF3
3
Show member pathways
12.76 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
4 12.11 SMARCC2 SMARCC1 SMARCB1 SMARCA4 CABIN1 ARID2
5
Show member pathways
12.03 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1A
6
Show member pathways
12.03 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
7
Show member pathways
11.59 SMARCC2 SMARCC1 SMARCB1 SMARCA4
8 11.52 SMARCC2 SMARCC1 SMARCA4
9
Show member pathways
11.34 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B

GO Terms for Neurilemmomatosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.3 SPRED1 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
2 nucleoplasm GO:0005654 10.2 SPRED1 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
3 chromatin GO:0000785 10.01 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
4 npBAF complex GO:0071564 9.7 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
5 nuclear chromosome GO:0000228 9.61 SMARCE1 SMARCB1 PBRM1
6 SWI/SNF complex GO:0016514 9.5 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B
7 XY body GO:0001741 9.46 SMARCC1 SMARCB1
8 brahma complex GO:0035060 9.43 SMARCB1 ARID1B ARID1A
9 nBAF complex GO:0071565 9.23 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 DPF3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.97 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PHF10
2 negative regulation of transcription, DNA-templated GO:0045892 9.96 SMARCE1 SMARCC2 SMARCA4 PHF10 DPF3
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 SMARCE1 SMARCC2 SMARCC1 SMARCA4 ARID1B ARID1A
4 chromatin remodeling GO:0006338 9.86 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
5 negative regulation of cell proliferation GO:0008285 9.85 SMARCB1 PBRM1 NF2 NF1 ARID2
6 negative regulation of protein kinase activity GO:0006469 9.7 SPRED1 NF2 NF1
7 nucleosome disassembly GO:0006337 9.7 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID2
8 ATP-dependent chromatin remodeling GO:0043044 9.56 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1
9 positive regulation by host of viral transcription GO:0043923 9.55 SMARCB1 SMARCA4
10 DNA integration GO:0015074 9.54 SMARCB1 BANF1
11 negative regulation of MAPK cascade GO:0043409 9.54 SPRED1 NF2 NF1
12 chromatin-mediated maintenance of transcription GO:0048096 9.51 ARID1B ARID1A
13 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.49 SMARCB1 SMARCA4
14 RNA polymerase I preinitiation complex assembly GO:0001188 9.48 SMARCB1 SMARCA4
15 positive regulation of glucose mediated signaling pathway GO:1902661 9.4 SMARCB1 SMARCA4
16 chromatin organization GO:0006325 9.4 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 PBRM1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.08 SMARCE1 SMARCB1 SMARCA4 PBRM1 BANF1 ARID2
2 transcription coregulator activity GO:0003712 9.63 SMARCB1 PHF10 DPF3
3 protein N-terminus binding GO:0047485 9.62 SMARCE1 SMARCC1 SMARCA4 BANF1
4 histone binding GO:0042393 9.55 SMARCC2 SMARCC1 SMARCA4 PHF10 DPF3
5 transcription coactivator activity GO:0003713 9.5 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B
6 nuclear receptor binding GO:0016922 9.49 SMARCE1 ARID1A
7 lysine-acetylated histone binding GO:0070577 9.43 SMARCA4 PBRM1
8 nucleosome binding GO:0031491 9.43 CABIN1 ARID1B ARID1A
9 Tat protein binding GO:0030957 9.4 SMARCB1 SMARCA4
10 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.37 SMARCB1 SMARCA4
11 nucleosomal DNA binding GO:0031492 9.02 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4

Sources for Neurilemmomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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