Neurilemmomatosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NRL002 MIFTS: 42	Neurilemmomatosis Categories: Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases
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Aliases & Classifications for Neurilemmomatosis

MalaCards integrated aliases for Neurilemmomatosis:

Name: Neurilemmomatosis ¹² ²⁵ ⁵⁹ ¹⁵

Schwannomatosis ¹² ⁷⁶ ²⁴ ⁵³ ²⁵ ⁵⁹ ²⁹ ¹³ ⁵⁵ ⁶ ⁴⁴ ⁴⁰ ⁷³

Neurofibromatosis Type 3 ⁵³ ²⁵ ⁵⁹

Neurinomatosis ²⁵ ⁷³

Nf3 ⁵³ ⁵⁹

Neurilemmomatosis, Congenital Cutaneous ²⁵

Congenital Cutaneous Neurilemmomatosis ⁵³

Neurilemmomatosis Congenital Cutaneous ⁵³

Multiple Neurilemmomas ²⁵

Multiple Schwannomas ²⁵

Neurofibromatosis 3 ⁷³

Schwannomatosis 1 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

GeneReviews:

²⁴

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

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Neurofibromatosis (nonmalignant)

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

SNOMED-CT ⁶⁸ 142071000119101

Orphanet ⁵⁹ ORPHA93921

UMLS via Orphanet ⁷⁴ C2931480 C0917817 C1335929

MESH via Orphanet ⁴⁵ C536641

ICD10 via Orphanet ³⁴ Q85.0

UMLS ⁷³ C1335929 C4048809 C0917817 more

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Summaries for Neurilemmomatosis

NIH Rare Diseases : ⁵³ Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery.

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

Genetics Home Reference : ²⁵ Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.

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

GeneReviews: NBK487394

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Related Diseases for Neurilemmomatosis

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

(show all 47)

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

Graphical network of the top 20 diseases related to Neurilemmomatosis:

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Symptoms & Phenotypes for Neurilemmomatosis

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

²⁶

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

MGI Mouse Phenotypes related to Neurilemmomatosis:

⁴⁶

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

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Drugs & Therapeutics for Neurilemmomatosis

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

(show all 10)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pregabalin

Approved, Illicit, Investigational

Phase 1

148553-50-8

5486971

Synonyms:

(3S)-3-(aminomethyl)-5-methylhexanoic acid

(R-)-3-isobutyl GABA

(R-)-3-Isobutyl gaba

(S)-3-(aminomethyl)-5-methylhexanoic acid

(S)-3-(Aminomethyl)-5-methylhexanoic acid

(S)-3-Isobutyl gaba

(S+)-3-isobutyl gaba

(S+)-3-isobutyl GABA

121GE001

148553-50-8

3 Isobutyl gaba

3-(Aminomethyl)-5-methylhexanoic acid

3-isobutyl GABA

3-Isobutyl gaba

AC-1158

AC1NUP03

AKOS005145504

C080245

C8H17NO2

CHEBI:236161

CHEMBL1059

CI 1008

CI-1008

CID5486971

D02716

DB00230

FT-0080911

GABA, 3-isobutyl

HSDB 7530

LS-75191

Lyrica

Lyrica (TN)

MolPort-000-861-733

PD 144723

PD-144723

Pregabalin

Pregabalin (JAN/USAN/INN)

Pregabalin [USAN]

Pregablin

S-(+)-3-isobutylgaba

S1731_Selleck

SBB062901

TL8001062

TOS-BB-0910

UNII-55JG375S6M

Analgesics

Phase 1

Anti-Anxiety Agents

Phase 1

Anticonvulsants

Phase 1

calcium channel blockers

Phase 1

Calcium, Dietary

Phase 1

Central Nervous System Depressants

Phase 1

Peripheral Nervous System Agents

Phase 1

Psychotropic Drugs

Phase 1

Tranquilizing Agents

Phase 1

Interventional clinical trials:

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

Search NIH Clinical Center for Neurilemmomatosis

Cochrane evidence based reviews: schwannomatosis

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Genetic Tests for Neurilemmomatosis

Genetic tests related to Neurilemmomatosis:

#	Genetic test	Affiliating Genes
1	Schwannomatosis ²⁹	LZTR1 SMARCB1

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Anatomical Context for Neurilemmomatosis

MalaCards organs/tissues related to Neurilemmomatosis:

⁴¹

Skin

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Publications for Neurilemmomatosis

Articles related to Neurilemmomatosis:

(show all 12)

#	Title	Authors	Year
1	Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. ( 26217390 )	Lee S.H....Lim D.J.	2015
2	Multiple neurilemmomas in Birt-Hogg-DubAc syndrome: case report. ( 22326190 )	Renfree K.J....Lawless K.L.	2012
3	Neurilemmomatosis, NF2, and juvenile xanthogranuloma. ( 9810909 )	Iyengar V....Schachner L.	1998
4	Follow-up study of a patient with neurilemmomatosis. ( 9366836 )	Shishiba T.	1997
5	Multiple neurilemmoma in both legs. A case report. ( 7768661 )	Shinozaki T....Kanbe K.	1995
6	Neurofibromatosis 2 and neurilemmomatosis gene are identical. ( 7798645 )	Honda M....Niimura M.	1995
7	Familial neurilemmomatosis: report of a case. ( 8219616 )	Iwabuchi S....Fujimura S.	1993
8	Congenital neurilemmomatosis. ( 1583187 )	Sasaki T....Nakajima H.	1992
9	Neurilemmomatosis. ( 1751355 )	Murata Y....Tani M.	1991
10	Multiple neurilemmoma of the cauda equina. A case report. ( 1774600 )	Shikata J....Shimizu K.	1991
11	Neurilemmomatosis and neurofibromatosis syndrome. ( 3935581 )	Kumar D....Timperley W.R.	1985
12	Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis. ( 6427303 )	Shishiba T....Tsuru N.	1984

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Genes for Neurilemmomatosis

Genes related to Neurilemmomatosis (4 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	868.69	Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	143.45	Genetic Tests ²⁹ Susceptibility factor ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	NF2	Neurofibromin 2	Protein Coding	61.56	Candidate gene tested ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18285426 16078050 12975302 (more) 9399891
4	COQ6	Coenzyme Q6, Monooxygenase	Protein Coding	41.44	Susceptibility factor ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	NF1	Neurofibromin 1	Protein Coding	17.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	16.27	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	PHF10	PHD Finger Protein 10	Protein Coding	15.22	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	14.83	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	SMARCC2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2	Protein Coding	14.82	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	MSH4	MutS Homolog 4	Protein Coding	14.81	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	14.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Neurilemmomatosis

ClinVar genetic disease variations for Neurilemmomatosis:

⁶

(show top 50) (show all 66)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SMARCB1	NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn)	single nucleotide variant	Uncertain significance	rs769322487	GRCh37	Chromosome 22, 24167504: 24167504
2	SMARCB1	NM_003073.4(SMARCB1): c.888G> T (p.Lys296Asn)	single nucleotide variant	Uncertain significance	rs769322487	GRCh38	Chromosome 22, 23825317: 23825317
3	SMARCB1	NM_003073.4(SMARCB1): c.-207-?_*338dup1703	duplication	Uncertain significance		GRCh37	Chromosome 22, 24129150: 24176705
4	SMARCB1	NM_003073.4(SMARCB1): c.-207-?_*338dup1703	duplication	Uncertain significance		GRCh38	Chromosome 22, 23786963: 23834518
5	SMARCB1	NM_003073.4(SMARCB1): c.987-?_*338dup510	duplication	Uncertain significance		GRCh38	Chromosome 22, 23833572: 23834518
6	SMARCB1	NM_003073.4(SMARCB1): c.987-?_*338dup510	duplication	Uncertain significance		GRCh37	Chromosome 22, 24175759: 24176705
7	SMARCB1	NM_003073.4(SMARCB1): c.362+7C> T	single nucleotide variant	Benign/Likely benign	rs34746244	GRCh37	Chromosome 22, 24135882: 24135882
8	SMARCB1	NM_003073.4(SMARCB1): c.362+7C> T	single nucleotide variant	Benign/Likely benign	rs34746244	GRCh38	Chromosome 22, 23793695: 23793695
9	SMARCB1	NM_003073.4(SMARCB1): c.-157G> A	single nucleotide variant	Uncertain significance	rs886057281	GRCh38	Chromosome 22, 23787013: 23787013
10	SMARCB1	NM_003073.4(SMARCB1): c.-157G> A	single nucleotide variant	Uncertain significance	rs886057281	GRCh37	Chromosome 22, 24129200: 24129200
11	SMARCB1	NM_003073.4(SMARCB1): c.-148T> C	single nucleotide variant	Uncertain significance	rs886057283	GRCh38	Chromosome 22, 23787022: 23787022
12	SMARCB1	NM_003073.4(SMARCB1): c.-148T> C	single nucleotide variant	Uncertain significance	rs886057283	GRCh37	Chromosome 22, 24129209: 24129209
13	SMARCB1	NM_003073.4(SMARCB1): c.723C> T (p.Ile241=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs752910574	GRCh38	Chromosome 22, 23816864: 23816864
14	SMARCB1	NM_003073.4(SMARCB1): c.723C> T (p.Ile241=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs752910574	GRCh37	Chromosome 22, 24159051: 24159051
15	SMARCB1	NM_003073.4(SMARCB1): c.12_14dupGCA	duplication	Uncertain significance	rs886057285	GRCh38	Chromosome 22, 23834192: 23834194
16	SMARCB1	NM_003073.4(SMARCB1): c.12_14dupGCA	duplication	Uncertain significance	rs886057285	GRCh37	Chromosome 22, 24176379: 24176381
17	SMARCB1	NM_003073.4(SMARCB1): c.*113C> T	single nucleotide variant	Uncertain significance	rs886057286	GRCh37	Chromosome 22, 24176480: 24176480
18	SMARCB1	NM_003073.4(SMARCB1): c.*113C> T	single nucleotide variant	Uncertain significance	rs886057286	GRCh38	Chromosome 22, 23834293: 23834293
19	SMARCB1	NM_003073.4(SMARCB1): c.-149C> T	single nucleotide variant	Uncertain significance	rs886057282	GRCh38	Chromosome 22, 23787021: 23787021
20	SMARCB1	NM_003073.4(SMARCB1): c.-149C> T	single nucleotide variant	Uncertain significance	rs886057282	GRCh37	Chromosome 22, 24129208: 24129208
21	SMARCB1	NM_003073.4(SMARCB1): c.-17C> T	single nucleotide variant	Uncertain significance	rs372777519	GRCh38	Chromosome 22, 23787153: 23787153
22	SMARCB1	NM_003073.4(SMARCB1): c.-17C> T	single nucleotide variant	Uncertain significance	rs372777519	GRCh37	Chromosome 22, 24129340: 24129340
23	SMARCB1	NM_003073.4(SMARCB1): c.987-4G> C	single nucleotide variant	Uncertain significance	rs745773662	GRCh38	Chromosome 22, 23833568: 23833568
24	SMARCB1	NM_003073.4(SMARCB1): c.987-4G> C	single nucleotide variant	Uncertain significance	rs745773662	GRCh37	Chromosome 22, 24175755: 24175755
25	SMARCB1	NM_003073.4(SMARCB1): c.*279G> A	single nucleotide variant	Uncertain significance	rs886057287	GRCh38	Chromosome 22, 23834459: 23834459
26	SMARCB1	NM_003073.4(SMARCB1): c.*279G> A	single nucleotide variant	Uncertain significance	rs886057287	GRCh37	Chromosome 22, 24176646: 24176646
27	SMARCB1	NM_003073.4(SMARCB1): c.-107A> G	single nucleotide variant	Uncertain significance	rs886057284	GRCh38	Chromosome 22, 23787063: 23787063
28	SMARCB1	NM_003073.4(SMARCB1): c.-107A> G	single nucleotide variant	Uncertain significance	rs886057284	GRCh37	Chromosome 22, 24129250: 24129250
29	SMARCB1	NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr)	single nucleotide variant	Uncertain significance	rs762962010	GRCh38	Chromosome 22, 23803401: 23803401
30	SMARCB1	NM_003073.4(SMARCB1): c.607G> A (p.Ala203Thr)	single nucleotide variant	Uncertain significance	rs762962010	GRCh37	Chromosome 22, 24145588: 24145588
31	SMARCB1	NM_003073.4(SMARCB1): c.628+13C> T	single nucleotide variant	Likely benign	rs184021903	GRCh38	Chromosome 22, 23803435: 23803435
32	SMARCB1	NM_003073.4(SMARCB1): c.628+13C> T	single nucleotide variant	Likely benign	rs184021903	GRCh37	Chromosome 22, 24145622: 24145622
33	SMARCB1	NM_003073.4(SMARCB1): c.*17C> T	single nucleotide variant	Likely benign	rs372348692	GRCh37	Chromosome 22, 24176384: 24176384
34	SMARCB1	NM_003073.4(SMARCB1): c.*17C> T	single nucleotide variant	Likely benign	rs372348692	GRCh38	Chromosome 22, 23834197: 23834197
35	SMARCB1	NM_003073.4(SMARCB1): c.*116dupG	duplication	Benign	rs397897183	GRCh37	Chromosome 22, 24176483: 24176483
36	SMARCB1	NM_003073.4(SMARCB1): c.*116dupG	duplication	Benign	rs397897183	GRCh38	Chromosome 22, 23834296: 23834296
37	SMARCB1	NM_003073.4(SMARCB1): c.*293C> T	single nucleotide variant	Likely benign	rs754865420	GRCh37	Chromosome 22, 24176660: 24176660
38	SMARCB1	NM_003073.4(SMARCB1): c.*293C> T	single nucleotide variant	Likely benign	rs754865420	GRCh38	Chromosome 22, 23834473: 23834473
39	SMARCB1	NM_003073.4(SMARCB1): c.-117C> T	single nucleotide variant	Benign	rs11090285	GRCh38	Chromosome 22, 23787053: 23787053
40	SMARCB1	NM_003073.4(SMARCB1): c.-117C> T	single nucleotide variant	Benign	rs11090285	GRCh37	Chromosome 22, 24129240: 24129240
41	SMARCB1	NM_003073.4(SMARCB1): c.-115C> T	single nucleotide variant	Likely benign	rs551328283	GRCh38	Chromosome 22, 23787055: 23787055
42	SMARCB1	NM_003073.4(SMARCB1): c.-115C> T	single nucleotide variant	Likely benign	rs551328283	GRCh37	Chromosome 22, 24129242: 24129242
43	SMARCB1	NM_003073.4(SMARCB1): c.*15C> A	single nucleotide variant	Likely benign	rs369400289	GRCh37	Chromosome 22, 24176382: 24176382
44	SMARCB1	NM_003073.4(SMARCB1): c.*15C> A	single nucleotide variant	Likely benign	rs369400289	GRCh38	Chromosome 22, 23834195: 23834195
45	SMARCB1	NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779769475	GRCh37	Chromosome 22, 24134007: 24134007
46	SMARCB1	NM_003073.4(SMARCB1): c.158G> T (p.Arg53Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779769475	GRCh38	Chromosome 22, 23791820: 23791820
47	SMARCB1	NM_003073.4(SMARCB1): c.712G> A (p.Ala238Thr)	single nucleotide variant	Uncertain significance	rs765514964	GRCh37	Chromosome 22, 24159040: 24159040
48	SMARCB1	NM_003073.4(SMARCB1): c.712G> A (p.Ala238Thr)	single nucleotide variant	Uncertain significance	rs765514964	GRCh38	Chromosome 22, 23816853: 23816853
49	SMARCB1	NM_003073.4(SMARCB1): c.856_858delAAG (p.Lys286del)	deletion	Uncertain significance	rs1060503020	GRCh38	Chromosome 22, 23825285: 23825287
50	SMARCB1	NM_003073.4(SMARCB1): c.856_858delAAG (p.Lys286del)	deletion	Uncertain significance	rs1060503020	GRCh37	Chromosome 22, 24167472: 24167474

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Expression for Neurilemmomatosis

Search GEO for disease gene expression data for Neurilemmomatosis.

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Pathways for Neurilemmomatosis

Pathways related to Neurilemmomatosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.12	PHF10 SMARCB1 SMARCC2 SMARCE1
2	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	11.16	PRKAR1A SMARCB1 SMARCC2 SMARCE1
3	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	10.98	SMARCB1 SMARCC2 SMARCE1

Sources

GO Terms for Neurilemmomatosis

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

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

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

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

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription coactivator activity	GO:0003713	9.33	SMARCB1 SMARCC2 SMARCE1
2	RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	9.13	SMARCB1 SMARCC2 SMARCE1
3	nucleosomal DNA binding	GO:0031492	8.8	SMARCB1 SMARCC2 SMARCE1

Sources

Sources for Neurilemmomatosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia