MCID: NRL002
MIFTS: 47

Neurilemmomatosis

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

Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis 12 26 60 15
Schwannomatosis 12 77 25 54 26 60 30 13 56 6 45 41 74
Neurofibromatosis Type 3 54 26 60
Neurinomatosis 26 74
Nf3 54 60
Neurilemmomatosis, Congenital Cutaneous 26
Congenital Cutaneous Neurilemmomatosis 54
Neurilemmomatosis Congenital Cutaneous 54
Multiple Neurilemmomas 26
Multiple Schwannomas 26
Neurofibromatosis 3 74
Schwannomatosis 1 74

Characteristics:

Orphanet epidemiological data:

60
neurofibromatosis type 3
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:



External Ids:

Disease Ontology 12 DOID:3204
ICD9CM 36 237.73
MeSH 45 C536641
NCIt 51 C6557
ICD10 34 Q85.03
MESH via Orphanet 46 C536641
ICD10 via Orphanet 35 Q85.0
UMLS via Orphanet 75 C0917817 C1335929 C2931480
Orphanet 60 ORPHA93921

Summaries for Neurilemmomatosis

NIH Rare Diseases : 54 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 neurilemmoma. 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 Calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 77 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 77)
# Related Disease Score Top Affiliating Genes
1 schwannomatosis 1 33.6 NF2 SMARCB1
2 neurilemmoma 31.9 NF1 NF2 PRKAR1A SMARCB1
3 meningioma, familial 31.0 NF1 NF2 SMARCB1 SMARCE1 SUFU
4 neurofibroma 30.6 NF1 NF2
5 neurofibrosarcoma 30.6 NF1 NF2
6 acoustic neuroma 30.4 NF1 NF2
7 plexiform schwannoma 30.4 NF1 NF2
8 malignant peripheral nerve sheath tumor 30.4 NF1 NF2 SMARCB1
9 epithelioid malignant peripheral nerve sheath tumor 30.3 NF1 SMARCB1
10 rhabdoid cancer 30.2 PHF10 SMARCB1
11 schwannomatosis 2 12.5
12 neurofibromatosis, type iv, of riccardi 11.7
13 neurofibromatosis, type i 11.4
14 neurofibromatosis, type iii, mixed central and peripheral 11.3
15 monosomy 22 10.3 NF2 SMARCB1
16 rhabdoid meningioma 10.3 NF2 SMARCB1
17 neurofibromatosis, familial spinal 10.3 NF1 NF2
18 tanycytic ependymoma 10.3 NF2 SMARCB1
19 immature cataract 10.3 NF1 NF2
20 small cell sarcoma 10.3 NF2 SMARCB1
21 meningothelial meningioma 10.3 NF2 SMARCE1
22 plexiform neurofibroma 10.3 NF1 NF2
23 atypical neurofibroma 10.3 NF1 NF2
24 amyloid tumor 10.3 NF1 NF2
25 cerebellopontine angle tumor 10.2 NF2 SMARCB1
26 benign meningioma 10.2 NF2 SMARCE1
27 optic nerve neoplasm 10.2 NF1 NF2
28 nodular medulloblastoma 10.2 SMARCB1 SUFU
29 cellular schwannoma 10.2 NF1 NF2
30 neuroma 10.2 LZTR1 NF2 SMARCB1
31 nervous system cancer 10.1 NF1 NF2 SMARCB1
32 neurofibromatosis, type ii 10.1 NF1 NF2
33 blood group, gerbich system 10.1
34 ischemia 10.1
35 cerebellar liponeurocytoma 10.1 SMARCB1 SUFU
36 juvenile xanthogranuloma 10.1
37 obstructive hydrocephalus 10.1 NF1 SUFU
38 borjeson-forssman-lehmann syndrome 10.1 SMARCB1 SMARCE1
39 spinal meningioma 10.1 NF1 NF2 SMARCE1
40 spinal canal and spinal cord meningioma 10.1 NF1 NF2 SMARCE1
41 pilomyxoid astrocytoma 10.1 NF1 SUFU
42 infratentorial cancer 10.1 SMARCB1 SUFU
43 trigeminal nerve neoplasm 10.0 NF1 NF2 PRKAR1A
44 neurilemmoma of the fifth cranial nerve 10.0 NF1 NF2 PRKAR1A
45 renal cell carcinoma, nonpapillary 10.0
46 neuroblastoma 1 10.0
47 renal cell carcinoma, papillary, 1 10.0
48 rhabdoid tumor predisposition syndrome 1 10.0
49 tumor predisposition syndrome 10.0
50 helix syndrome 10.0

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.73 PRKAR1A SMARCB1
2 Decreased viability GR00221-A-2 9.73 PRKAR1A SMARCB1
3 Decreased viability GR00221-A-3 9.73 NF2 PRKAR1A SMARCB1
4 Decreased viability GR00221-A-4 9.73 PRKAR1A
5 Decreased viability GR00381-A-1 9.73 SMARCB1
6 Decreased viability GR00402-S-2 9.73 NF2 PRKAR1A SMARCB1
7 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Neurilemmomatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.87 COQ6 NF1 NF2 PRKAR1A SMARCB1 SMARCC2
2 mortality/aging MP:0010768 9.81 COQ6 LZTR1 NF1 NF2 PRKAR1A SMARCB1
3 liver/biliary system MP:0005370 9.65 NF1 NF2 PRKAR1A SMARCB1 SUFU
4 neoplasm MP:0002006 9.35 NF1 NF2 PRKAR1A SMARCB1 SUFU
5 vision/eye MP:0005391 9.1 COQ6 NF1 NF2 PRKAR1A SMARCB1 SUFU

Drugs & Therapeutics for Neurilemmomatosis

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Illicit, Investigational Phase 1 148553-50-8 5486971
2
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
3 Peripheral Nervous System Agents Phase 1
4 Anti-Anxiety Agents Phase 1
5 Calcium, Dietary Phase 1
6 Central Nervous System Depressants Phase 1
7 Tranquilizing Agents Phase 1
8 Hormones Phase 1
9 Psychotropic Drugs Phase 1
10 Analgesics Phase 1
11 calcium channel blockers Phase 1
12 Anticonvulsants 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 The Pharmacokinetics of GLA5PR Tablet According to the Renal Function Not yet recruiting NCT03963362 Phase 1 GLA5PR tablet 75 mg;GLA5PR tablet 150 mg
4 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF Completed NCT02435628
5 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270 Not Applicable
6 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125
7 Neurofibromatosis (NF) Registry Portal Recruiting NCT01885767
8 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 30 LZTR1 SMARCB1

Anatomical Context for Neurilemmomatosis

MalaCards organs/tissues related to Neurilemmomatosis:

42
Skin, Spinal Cord, Brain

Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show top 50) (show all 152)
# Title Authors Year
1
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. ( 30908866 )
2019
2
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case. ( 30555950 )
2019
3
Schwannomatosis of the Spinal Accessory Nerve: A Case Report. ( 31037098 )
2019
4
Malignant Peripheral Nerve Sheath Tumor Arising in Schwannomatosis with Multiple Lung Metastases. ( 30144611 )
2018
5
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018
6
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. ( 29681099 )
2018
7
Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. ( 30157837 )
2018
8
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. ( 29409008 )
2018
9
Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2. ( 29469988 )
2018
10
Neurofibromatosis and Schwannomatosis. ( 29548054 )
2018
11
Pain correlates with germline mutation in schwannomatosis. ( 29384852 )
2018
12
Including cannabinoids in the treatment of painful schwannomatosis. ( 29845778 )
2018
13
Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement. ( 29902824 )
2018
14
Schwannomatosis: a genetic and epidemiological study. ( 29909380 )
2018
15
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. ( 30006736 )
2018
16
Detection of germline mutations of the SMARCB1 gene in a Chinese family with intraspinal schwannomatosis. ( 30576819 )
2018
17
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 28696935 )
2017
18
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. ( 28436162 )
2017
19
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 27856782 )
2017
20
Addendum to Spinal Schwannomatosis: Case Report of a Rare Condition. ( 27593798 )
2017
21
Creation of an international registry to support discovery in schwannomatosis. ( 27759912 )
2017
22
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. ( 27921248 )
2017
23
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
24
Familial Schwannomatosis: A Diagnostic Challenge. ( 28384950 )
2017
25
Massive Oculomotor Nerve Enlargement: A Case of Presumed Schwannomatosis. ( 28512503 )
2017
26
Six cases of sporadic schwannomatosis: Topographic distribution and outcomes of peripheral nerve tumors. ( 28781128 )
2017
27
Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. ( 27617150 )
2016
28
Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. ( 26851632 )
2016
29
Neurofibromatosis type 2 (NF 2) or schwannomatosis?--Case report study and diagnostic criteria. ( 27154453 )
2016
30
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
31
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 )
2016
32
Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis. ( 26546566 )
2016
33
An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation. ( 26431068 )
2016
34
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
35
Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation. ( 26848914 )
2016
36
Utility of positron emission tomography in schwannomatosis. ( 26960263 )
2016
37
Multiparametric whole-body anatomic, functional, and metabolic imaging characteristics of peripheral lesions in patients with schwannomatosis. ( 26991037 )
2016
38
Segmental Schwannomatosis of the Spine: Report of a Rare Case and Brief Review of Literature. ( 27053311 )
2016
39
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. ( 27472264 )
2016
40
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis. ( 27527647 )
2016
41
Schwannomatosis of Cervical Vagus Nerve. ( 27807496 )
2016
42
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis. ( 26001331 )
2015
43
Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. ( 26217390 )
2015
44
Expanding the mutational spectrum of LZTR1 in schwannomatosis. ( 25335493 )
2015
45
A rare case of schwannomatosis incidentally detected by ¹⁸F-FDG PET/CT during metabolic evaluation of a chest wall tumor. ( 25459196 )
2015
46
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. ( 25480913 )
2015
47
Schwannomatosis on a single foot: a case report. ( 25547315 )
2015
48
Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. ( 25631985 )
2015
49
Expanding schwannomatosis phenotype. ( 25663272 )
2015
50
Is there a link between COQ6 and schwannomatosis? ( 25835193 )
2015

Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
2 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
3 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh37 Chromosome 22, 24167504: 24167504
4 SMARCB1 NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn) single nucleotide variant Uncertain significance rs769322487 GRCh38 Chromosome 22, 23825317: 23825317
5 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh37 Chromosome 22, 24129150: 24176705
6 SMARCB1 NM_003073.4(SMARCB1): c.-207-?_*338dup1703 duplication Uncertain significance GRCh38 Chromosome 22, 23786963: 23834518
7 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh38 Chromosome 22, 23833572: 23834518
8 SMARCB1 NM_003073.4(SMARCB1): c.987-?_*338dup510 duplication Uncertain significance GRCh37 Chromosome 22, 24175759: 24176705
9 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh37 Chromosome 22, 24135882: 24135882
10 SMARCB1 NM_003073.4(SMARCB1): c.362+7C> T single nucleotide variant Benign/Likely benign rs34746244 GRCh38 Chromosome 22, 23793695: 23793695
11 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh38 Chromosome 22, 23787013: 23787013
12 SMARCB1 NM_003073.4(SMARCB1): c.-157G> A single nucleotide variant Uncertain significance rs886057281 GRCh37 Chromosome 22, 24129200: 24129200
13 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh38 Chromosome 22, 23787022: 23787022
14 SMARCB1 NM_003073.4(SMARCB1): c.-148T> C single nucleotide variant Uncertain significance rs886057283 GRCh37 Chromosome 22, 24129209: 24129209
15 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh38 Chromosome 22, 23816864: 23816864
16 SMARCB1 NM_003073.4(SMARCB1): c.723C> T (p.Ile241=) single nucleotide variant Conflicting interpretations of pathogenicity rs752910574 GRCh37 Chromosome 22, 24159051: 24159051
17 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dup duplication Uncertain significance rs779825754 GRCh38 Chromosome 22, 23834192: 23834194
18 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dup duplication Uncertain significance rs779825754 GRCh37 Chromosome 22, 24176379: 24176381
19 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh37 Chromosome 22, 24176480: 24176480
20 SMARCB1 NM_003073.4(SMARCB1): c.*113C> T single nucleotide variant Uncertain significance rs886057286 GRCh38 Chromosome 22, 23834293: 23834293
21 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh38 Chromosome 22, 23787021: 23787021
22 SMARCB1 NM_003073.4(SMARCB1): c.-149C> T single nucleotide variant Uncertain significance rs886057282 GRCh37 Chromosome 22, 24129208: 24129208
23 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh38 Chromosome 22, 23787153: 23787153
24 SMARCB1 NM_003073.4(SMARCB1): c.-17C> T single nucleotide variant Uncertain significance rs372777519 GRCh37 Chromosome 22, 24129340: 24129340
25 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh38 Chromosome 22, 23833568: 23833568
26 SMARCB1 NM_003073.4(SMARCB1): c.987-4G> C single nucleotide variant Uncertain significance rs745773662 GRCh37 Chromosome 22, 24175755: 24175755
27 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh38 Chromosome 22, 23834459: 23834459
28 SMARCB1 NM_003073.4(SMARCB1): c.*279G> A single nucleotide variant Uncertain significance rs886057287 GRCh37 Chromosome 22, 24176646: 24176646
29 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh38 Chromosome 22, 23787063: 23787063
30 SMARCB1 NM_003073.4(SMARCB1): c.-107A> G single nucleotide variant Uncertain significance rs886057284 GRCh37 Chromosome 22, 24129250: 24129250
31 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh38 Chromosome 22, 23803401: 23803401
32 SMARCB1 NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr) single nucleotide variant Uncertain significance rs762962010 GRCh37 Chromosome 22, 24145588: 24145588
33 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh38 Chromosome 22, 23803435: 23803435
34 SMARCB1 NM_003073.4(SMARCB1): c.628+13C> T single nucleotide variant Likely benign rs184021903 GRCh37 Chromosome 22, 24145622: 24145622
35 SMARCB1 NM_003073.4(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 GRCh37 Chromosome 22, 24176384: 24176384
36 SMARCB1 NM_003073.4(SMARCB1): c.*17C> T single nucleotide variant Likely benign rs372348692 GRCh38 Chromosome 22, 23834197: 23834197
37 SMARCB1 NM_003073.4(SMARCB1): c.*116dup duplication Benign rs397897183 GRCh37 Chromosome 22, 24176483: 24176483
38 SMARCB1 NM_003073.4(SMARCB1): c.*116dup duplication Benign rs397897183 GRCh38 Chromosome 22, 23834296: 23834296
39 SMARCB1 NM_003073.4(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 GRCh37 Chromosome 22, 24176660: 24176660
40 SMARCB1 NM_003073.4(SMARCB1): c.*293C> T single nucleotide variant Likely benign rs754865420 GRCh38 Chromosome 22, 23834473: 23834473
41 SMARCB1 NM_003073.4(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 GRCh38 Chromosome 22, 23787053: 23787053
42 SMARCB1 NM_003073.4(SMARCB1): c.-117C> T single nucleotide variant Benign rs11090285 GRCh37 Chromosome 22, 24129240: 24129240
43 SMARCB1 NM_003073.4(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 GRCh38 Chromosome 22, 23787055: 23787055
44 SMARCB1 NM_003073.4(SMARCB1): c.-115C> T single nucleotide variant Likely benign rs551328283 GRCh37 Chromosome 22, 24129242: 24129242
45 SMARCB1 NM_003073.4(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 GRCh37 Chromosome 22, 24176382: 24176382
46 SMARCB1 NM_003073.4(SMARCB1): c.*15C> A single nucleotide variant Likely benign rs369400289 GRCh38 Chromosome 22, 23834195: 23834195
47 SMARCB1 NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 GRCh37 Chromosome 22, 24134007: 24134007
48 SMARCB1 NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs779769475 GRCh38 Chromosome 22, 23791820: 23791820
49 SMARCB1 NM_003073.4(SMARCB1): c.969_976del (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh37 Chromosome 22, 24167585: 24167592
50 SMARCB1 NM_003073.4(SMARCB1): c.969_976del (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405

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 9.67 PRKAR1A SMARCB1 SMARCC2 SMARCE1
2 nuclear chromatin GO:0000790 9.56 PHF10 SMARCB1 SMARCC2 SMARCE1
3 nuclear chromosome GO:0000228 9.4 MSH4 SMARCE1
4 SWI/SNF complex GO:0016514 9.33 SMARCB1 SMARCC2 SMARCE1
5 ciliary base GO:0097546 9.32 PRKAR1A SUFU
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 mesoderm formation GO:0001707 9.46 NF2 PRKAR1A
3 negative regulation of MAPK cascade GO:0043409 9.43 NF1 NF2
4 chromatin remodeling GO:0006338 9.43 SMARCB1 SMARCC2 SMARCE1
5 negative regulation of cell-matrix adhesion GO:0001953 9.37 NF1 NF2
6 negative regulation of protein kinase activity GO:0006469 9.33 NF1 NF2 PRKAR1A
7 negative regulation of protein import into nucleus GO:0042308 9.32 NF1 SUFU
8 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCB1 SMARCC2 SMARCE1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....