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NF3
MCID: NRL002
MIFTS: 44

Neurilemmomatosis (NF3)

Categories: Cancer diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Neurilemmomatosis

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

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

Summaries for Neurilemmomatosis

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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 iv, of riccardi. 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. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are Decreased viability and Decreased viability

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

GeneReviews: NBK487394
Sources

Related Diseases for Neurilemmomatosis

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 schwannomatosis 1 33.0 NF2 SMARCB1
2 neurofibromatosis, type iv, of riccardi 32.4 NF1 NF2
3 meningioma, familial 31.5 NF1 NF2 SMARCB1 SMARCE1
4 neurilemmoma 31.4 NF1 NF2 PRKAR1A SMARCB1
5 neurofibroma 30.4 NF1 NF2
6 neurofibrosarcoma 30.4 NF1 NF2
7 malignant peripheral nerve sheath tumor 30.3 NF1 NF2 SMARCB1
8 plexiform schwannoma 30.2 NF1 NF2
9 epithelioid malignant peripheral nerve sheath tumor 30.2 NF1 SMARCB1
10 rhabdoid cancer 30.1 PHF10 SMARCB1
11 schwannomatosis 2 12.5
12 neurofibromatosis, type i 11.4
13 neurofibromatosis, type iii, mixed central and peripheral 11.2
14 monosomy 22 10.2 NF2 SMARCB1
15 rhabdoid meningioma 10.2 NF2 SMARCB1
16 neurofibromatosis, familial spinal 10.2 NF1 NF2
17 tanycytic ependymoma 10.2 NF2 SMARCB1
18 small cell sarcoma 10.2 NF2 SMARCB1
19 immature cataract 10.2 NF1 NF2
20 meningothelial meningioma 10.2 NF2 SMARCE1
21 atypical neurofibroma 10.2 NF1 NF2
22 amyloid tumor 10.2 NF1 NF2
23 cerebellopontine angle tumor 10.2 NF2 SMARCB1
24 benign meningioma 10.1 NF2 SMARCE1
25 optic nerve neoplasm 10.1 NF1 NF2
26 ischemia 10.1
27 acoustic neuroma 10.1 NF1 NF2
28 cellular schwannoma 10.1 NF1 NF2
29 juvenile xanthogranuloma 10.1
30 neuroma 10.1 LZTR1 NF2 SMARCB1
31 neurofibromatosis, type ii 10.1 NF1 NF2
32 neuroblastoma 10.1
33 central nervous system cancer 10.1 NF1 NF2 SMARCB1
34 nervous system cancer 10.1 NF1 NF2 SMARCB1
35 borjeson-forssman-lehmann syndrome 10.1 SMARCB1 SMARCE1
36 legius syndrome 10.1 NF1 SPRED1
37 spinal meningioma 10.0 NF1 NF2 SMARCE1
38 spinal canal and spinal cord meningioma 10.0 NF1 NF2 SMARCE1
39 plexiform neurofibroma 10.0 NF1 NF2 SPRED1
40 peripheral nervous system neoplasm 10.0 NF1 NF2
41 trigeminal nerve neoplasm 10.0 NF1 NF2 PRKAR1A
42 neurilemmoma of the fifth cranial nerve 10.0 NF1 NF2 PRKAR1A
43 autosomal genetic disease 10.0 NF1 NF2 PRKAR1A
44 multiple endocrine neoplasia 10.0 NF1 PRKAR1A
45 nervous system benign neoplasm 10.0 LZTR1 NF1 NF2 SMARCB1
46 renal cell carcinoma, nonpapillary 9.9
47 renal cell carcinoma, papillary, 1 9.9
48 rhabdoid tumor predisposition syndrome 1 9.9
49 tumor predisposition syndrome 9.9
50 leiomyoma 9.9

Graphical network of the top 20 diseases related to Neurilemmomatosis:



Diseases related to Neurilemmomatosis
Sources

Symptoms & Phenotypes for Neurilemmomatosis

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.43 COQ6 NF1 NF2 PRKAR1A SMARCB1 SMARCC2
2 mortality/aging MP:0010768 9.23 COQ6 LZTR1 NF1 NF2 PRKAR1A SMARCB1
Sources

Drugs & Therapeutics for Neurilemmomatosis

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF Completed NCT02435628
2 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270 Not Applicable
3 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125
4 Neurofibromatosis (NF) Registry Portal Recruiting NCT01885767
5 Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing Recruiting NCT03406208 Not Applicable

Search NIH Clinical Center for Neurilemmomatosis

Cochrane evidence based reviews: schwannomatosis

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Genetic Tests for Neurilemmomatosis

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Genetic tests related to Neurilemmomatosis:

# Genetic test Affiliating Genes
1 Schwannomatosis 29 LZTR1 SMARCB1
Sources

Anatomical Context for Neurilemmomatosis

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MalaCards organs/tissues related to Neurilemmomatosis:

41
Skin, Brain, Spinal Cord, Lung
Sources

Publications for Neurilemmomatosis

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Articles related to Neurilemmomatosis:

(show top 50) (show all 85)
# Title Authors Year
1
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case. ( 30555950 )
2019
2
Malignant Peripheral Nerve Sheath Tumor Arising in Schwannomatosis with Multiple Lung Metastases. ( 30144611 )
2018
3
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
4
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. ( 29409008 )
2018
5
Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2. ( 29469988 )
2018
6
Neurofibromatosis and Schwannomatosis. ( 29548054 )
2018
7
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. ( 29681099 )
2018
8
Pain correlates with germline mutation in schwannomatosis. ( 29384852 )
2018
9
Including cannabinoids in the treatment of painful schwannomatosis. ( 29845778 )
2018
10
Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement. ( 29902824 )
2018
11
Schwannomatosis: a genetic and epidemiological study. ( 29909380 )
2018
12
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. ( 30006736 )
2018
13
Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. ( 26851632 )
2016
14
Multiparametric whole-body anatomic, functional, and metabolic imaging characteristics of peripheral lesions in patients with schwannomatosis. ( 26991037 )
2016
15
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. ( 27472264 )
2016
16
Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. ( 26217390 )
2015
17
Schwannomatosis on a single foot: a case report. ( 25547315 )
2015
18
SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis. ( 24525513 )
2014
19
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. ( 24443315 )
2014
20
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. ( 24933152 )
2014
21
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. ( 25008767 )
2014
22
The relaxation response resiliency program (3RP) in patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis: results from a pilot study. ( 25022450 )
2014
23
A rare occurrence and management of familial schwannomatosis. ( 23595180 )
2013
24
Multiple schwannomas of the upper limb related exclusively to the ulnar nerve in a patient with segmental schwannomatosis. ( 23810216 )
2013
25
Intraosseous schwannoma in schwannomatosis. ( 23995262 )
2013
26
Schwannomatosis presenting as pancreatic and submandibular gland schwannoma. ( 24054034 )
2013
27
Whole Body MRI at 3T with Quantitative Diffusion Weighted Imaging and Contrast-Enhanced Sequences for the Characterization of Peripheral Lesions in Patients with Neurofibromatosis Type 2 and Schwannomatosis. ( 24967287 )
2013
28
Multiple neurilemmomas in Birt-Hogg-DubAc syndrome: case report. ( 22326190 )
2012
29
Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. ( 22446939 )
2012
30
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. ( 22105938 )
2012
31
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. ( 22434358 )
2012
32
Clinical features of schwannomatosis: a retrospective analysis of 87 patients. ( 22927469 )
2012
33
Segmental schwannomatosis: An uncommon cause of crural monoparesis. ( 23189021 )
2012
34
Multiple schwannomatosis caused by the recently described INI1 gene--molecular pathology, and implications for prognosis. ( 20854059 )
2011
35
Superficial neurofibromas in the setting of schwannomatosis: nosologic implications. ( 21191601 )
2011
36
Schwannomatosis presenting with large subcutaneous and retroperitoneal tumours. ( 21392082 )
2011
37
Polyradiculopathies from schwannomatosis. ( 21643503 )
2011
38
Whole-body imaging in schwannomatosis. ( 21646633 )
2011
39
Spinal schwannomatosis in the absence of neurofibromatosis: A very rare condition. ( 22096683 )
2011
40
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. ( 19912265 )
2010
41
A rare case of multiple schwannomas presenting with scrotal mass: a probable case of schwannomatosis. ( 20604815 )
2010
42
Schwannomatosis affecting all three major nerves in the same upper extremity. ( 20719892 )
2010
43
Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. ( 20729918 )
2010
44
Recurrent knee pain in an athletic adult: multiple schwannomas secondary to schwannomatosis: a case report. ( 21623424 )
2010
45
Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. ( 19244040 )
2009
46
Schwannomatosis. ( 19332700 )
2009
47
Schwannomatosis of a single intercostal nerve: a case report. ( 19605334 )
2009
48
Case of schwannomatosis. ( 19712279 )
2009
49
The neurofibromatoses. Part 2: NF2 and schwannomatosis. ( 19898272 )
2009
50
Schwannomatosis. ( 18427075 )
2008
Sources

Variations for Neurilemmomatosis

About this section

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_*14dupGCA duplication Uncertain significance rs886057285 GRCh38 Chromosome 22, 23834192: 23834194
18 SMARCB1 NM_003073.4(SMARCB1): c.*12_*14dupGCA duplication Uncertain significance rs886057285 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.*116dupG duplication Benign rs397897183 GRCh37 Chromosome 22, 24176483: 24176483
38 SMARCB1 NM_003073.4(SMARCB1): c.*116dupG 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_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh37 Chromosome 22, 24167585: 24167592
50 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405
Sources

Expression for Neurilemmomatosis

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Search GEO for disease gene expression data for Neurilemmomatosis.
Sources

Pathways for Neurilemmomatosis

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Pathways related to Neurilemmomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gastric cancer 37
Show member pathways
 12.12 PHF10 SMARCB1 SMARCC2 SMARCE1
2
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.16 PRKAR1A SMARCB1 SMARCC2 SMARCE1
3
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 10.98 SMARCB1 SMARCC2 SMARCE1
Sources

GO Terms for Neurilemmomatosis

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.62 PRKAR1A SMARCB1 SMARCC2 SMARCE1
2 nuclear chromatin GO:0000790 9.56 PHF10 SMARCB1 SMARCC2 SMARCE1
3 transcriptional repressor complex GO:0017053 9.4 SMARCC2 SMARCE1
4 nuclear chromosome GO:0000228 9.37 MSH4 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 nucleosome disassembly GO:0006337 9.13 SMARCB1 SMARCC2 SMARCE1
9 negative regulation of protein kinase activity GO:0006469 8.92 NF1 NF2 PRKAR1A SPRED1

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

Sources for Neurilemmomatosis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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