Schwannomatosis 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Name: Schwannomatosis 1 ⁵⁷ ⁷³ ²⁸ ⁵ ⁷¹

Schwannomatosis-1, Susceptibility to ⁵⁷ ²⁸

Schwannomatosis, Somatic ⁵⁷ ²⁸

Swnts1 ⁵⁷ ⁷³

Neurilemmomatosis, Congenital Cutaneous ⁵⁷

Congenital Cutaneous Neurilemmomatosis ⁷³

Schwannomatosis-1 ⁵⁷

Schwannomatosis ⁷¹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable expressivity
incomplete penetrance
germline and somatic mutations contribute to this disorder

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 162091

OMIM Phenotypic Series ⁵⁷ PS162091

MeSH ⁴³ D009442

MedGen ⁴⁰ C1335929 C4048809

SNOMED-CT via HPO ⁶⁹ 126962006 404022001 985004

UMLS ⁷¹ C1335929 C4048809

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Summaries for Schwannomatosis 1

OMIM®: ⁵⁷ Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis II (NF2; 101000). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012). (162091) (Updated 08-Dec-2022)

MalaCards based summary: Schwannomatosis 1, also known as schwannomatosis-1, susceptibility to, is related to neurilemmomatosis and schwannomatosis 2. An important gene associated with Schwannomatosis 1 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). The drugs Tanezumab and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and peripheral nerve, and related phenotypes are meningioma and spinal cord tumor

UniProtKB/Swiss-Prot: ⁷³ A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.

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Related Diseases for Schwannomatosis 1

Diseases in the Schwannomatosis 1 family:

Schwannomatosis 2

Diseases related to Schwannomatosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)

#	Related Disease	Score	Top Affiliating Genes
1	neurilemmomatosis	31.3	SMARCB1 NF2
2	schwannomatosis 2	11.0
3	full schwannomatosis	9.9	SMARCB1 NF2
4	posterior pituitary gland neoplasm	9.9	SMARCB1 NF2
5	childhood meningioma	9.9	SMARCB1 NF2
6	peripheral nerve schwannoma	9.9	SMARCB1 NF2
7	pineal region meningioma	9.9	SMARCB1 NF2
8	cerebral falx meningioma	9.9	SMARCB1 NF2
9	parasagittal meningioma	9.9	SMARCB1 NF2
10	cerebral convexity meningioma	9.9	SMARCB1 NF2
11	optic nerve sheath meningioma	9.9	SMARCB1 NF2
12	plexiform schwannoma	9.9	SMARCB1 NF2
13	olfactory groove meningioma	9.9	SMARCB1 NF2
14	cerebellopontine angle tumor	9.9	SMARCB1 NF2
15	anterior cranial fossa meningioma	9.9	SMARCB1 NF2
16	cellular schwannoma	9.9	SMARCB1 NF2
17	chordoid meningioma	9.9	SMARCB1 NF2
18	brain meningioma	9.9	SMARCB1 NF2
19	transitional meningioma	9.9	SMARCB1 NF2
20	atypical neurofibroma	9.8	SMARCB1 NF2
21	secretory meningioma	9.8	SMARCB1 NF2
22	optic nerve neoplasm	9.8	SMARCB1 NF2
23	melanotic neurilemmoma	9.8	SMARCB1 NF2
24	neurilemmoma	9.8	SMARCB1 NF2
25	schwannoma of twelfth cranial nerve	9.8	SMARCB1 NF2
26	hypoglossal nerve disease	9.8	SMARCB1 NF2
27	rhabdoid meningioma	9.8	SMARCB1 NF2
28	skull base meningioma	9.8	SMARCB1 NF2
29	spinal canal and spinal cord meningioma	9.8	SMARCB1 NF2
30	spinal meningioma	9.8	SMARCB1 NF2
31	meningothelial meningioma	9.8	SMARCB1 NF2
32	spinal cord ependymoma	9.8	SMARCB1 NF2
33	clear cell meningioma	9.8	SMARCB1 NF2
34	skull base cancer	9.8	SMARCB1 NF2
35	fibrous meningioma	9.8	SMARCB1 NF2
36	cranial nerve malignant neoplasm	9.8	SMARCB1 NF2
37	intracranial meningioma	9.8	SMARCB1 NF2
38	anaplastic ependymoma	9.8	SMARCB1 NF2
39	spinal cancer	9.8	SMARCB1 NF2
40	plexiform neurofibroma	9.8	SMARCB1 NF2
41	high grade ependymoma	9.8	SMARCB1 NF2
42	cerebral ventricle cancer	9.8	SMARCB1 NF2
43	neurofibromatosis, type ii	9.8	SMARCB1 NF2
44	neurofibromatosis	9.8	SMARCB1 NF2
45	cerebrum cancer	9.8	SMARCB1 NF2
46	supratentorial cancer	9.8	SMARCB1 NF2
47	spindle cell sarcoma	9.8	SMARCB1 NF2
48	acoustic neuroma	9.8	SMARCB1 NF2
49	neuroma	9.8	SMARCB1 NF2
50	atypical teratoid rhabdoid tumor	9.7	SMARCB1 NF2

Graphical network of the top 20 diseases related to Schwannomatosis 1:

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Symptoms & Phenotypes for Schwannomatosis 1

Human phenotypes related to Schwannomatosis 1:

³⁰

#	Description	HPO Source Accession
1	meningioma ³⁰	HP:0002858
2	spinal cord tumor ³⁰	HP:0010302
3	schwannoma ³⁰	HP:0100008

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Spine:
schwannomas

Skin Nails Hair Skin:
schwannomas

Neoplasia:
meningiomas
multiple schwannomas

Skeletal Limbs:
schwannomas

Neurologic Central Nervous System:
spinal tumors
absence of vestibular schwannomas at age greater than 18 years
meningiomas

Clinical features from OMIM®:

162091 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-3	9.56	NF2
2	Decreased viability	GR00221-A-1	9.56	SMARCB1
3	Decreased viability	GR00221-A-2	9.56	SMARCB1
4	Decreased viability	GR00221-A-3	9.56	NF2 SMARCB1
5	Decreased viability	GR00249-S	9.56	NF2 SMARCB1
6	Decreased viability	GR00381-A-1	9.56	SMARCB1
7	Increased proliferation	GR00094-A	8.62	NF2 SMARCB1

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Drugs & Therapeutics for Schwannomatosis 1

Drugs for Schwannomatosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Tanezumab

Investigational

Phase 2

880266-57-9

2

Analgesics

Phase 2

3

Immunoglobulins

Phase 2

4

Antibodies

Phase 2

5

Mitogens

Phase 2

6

Lysine

Approved, Nutraceutical

56-87-1

5962

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Immunotherapy Targeting Neurofibromatosis or Schwannomatosis	Recruiting	NCT04085159	Phase 1, Phase 2
2	A Phase 2 Randomized, Double-blind, Placebo-Controlled Study of the Analgesic Efficacy and Safety of the Subcutaneous Administration of the Anti-NGF Antibody Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis	Active, not recruiting	NCT04163419	Phase 2	Tanezumab;Placebo
3	Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis	Completed	NCT02435628
4	Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype	Completed	NCT02298270
5	Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation	Recruiting	NCT01885767
6	Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing	Recruiting	NCT03406208
7	Tazemetostat Expanded Access Program for Adults With Solid Tumors	Temporarily not available	NCT03874455		Tazemetostat

Search NIH Clinical Center for Schwannomatosis 1

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Genetic Tests for Schwannomatosis 1

Genetic tests related to Schwannomatosis 1:

#	Genetic test	Affiliating Genes
1	Schwannomatosis 1 ²⁸	NF2 SMARCB1
2	Schwannomatosis, Somatic ²⁸
3	Schwannomatosis-1, Susceptibility to ²⁸

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Anatomical Context for Schwannomatosis 1

Organs/tissues related to Schwannomatosis 1:

MalaCards : Spinal Cord, Brain

ODiseA: Peripheral Nerve, Brain

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Publications for Schwannomatosis 1

Articles related to Schwannomatosis 1:

(show all 23)

#	Title	Authors	PMID	Year
1	Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. ⁵⁷ ⁵	van den Munckhof P...Hulsebos TJ	22038540	2012
2	Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. ⁵⁷ ⁵	Christiaans I...Hulsebos TJ	20930055	2011
3	Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. ⁵⁷ ⁵	Bacci C...Papi L	19582488	2010
4	Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. ⁵⁷ ⁵	Swensen JJ...Williams MS	19124645	2009
5	Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. ⁵⁷ ⁵	Hadfield KD...Evans DG	18285426	2008
6	Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. ⁵⁷ ⁵	Sestini R...Papi L	18072270	2008
7	Germline mutation of INI1/SMARCB1 in familial schwannomatosis. ⁵⁷ ⁵	Hulsebos TJ...Wesseling P	17357086	2007
8	Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. ⁵⁷ ⁵	Jacoby LB...MacCollin M	9399891	1997
9	Neurofibromatosis 2 and neurilemmomatosis gene are identical. ⁵⁷ ⁵	Honda M...Niimura M	7798645	1995
10	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁵	Xiong HY...Frey BJ	25525159	2015
11	Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. ⁵⁷	Buckley PG...Dumanski JP	16287142	2005
12	Familial schwannomatosis: exclusion of the NF2 locus as the germline event. ⁵⁷	MacCollin M...Louis DN	12821741	2003
13	Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. ⁵	Kluwe L...Mautner VF	9605590	1998
14	Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. ⁵⁷	Evans DG...Strachan T	9120449	1997
15	Schwannomatosis: a clinical and pathologic study. ⁵⁷	MacCollin M...Short MP	8780094	1996
16	Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. ⁵⁷	Parry DM...Patronas N	7747758	1994
17	Neurofibromatosis 2 in the pediatric age group. ⁵⁷	Mautner VF...Pulst SM	8355853	1993
18	A clinical study of type 2 neurofibromatosis. ⁵⁷	Evans DG...Harris R	1484939	1992
19	Congenital neurilemmomatosis. ⁵⁷	Sasaki T...Nakajima H	1583187	1992
20	A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. ⁶²	Caltabiano R...Ruggieri M	28365909	2017
21	Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. ⁶²	Ruggieri M...Evans DG	27958595	2016
22	Epithelioid Schwannomas: An Analysis of 58 Cases Including Atypical Variants. ⁶²	Hart J...Weiss SW	26752543	2016
23	Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms. ⁶²	Ruggieri M...Evans DG	26706012	2015

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Genes for Schwannomatosis 1

Genes related to Schwannomatosis 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	1082.42	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	17357086 18072270 18285426 (more) 19124645 19582488 20930055 22038540
2	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	1007.42	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	7798645 9399891 9605590 (more) 25525159

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Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

⁵ (show top 50) (show all 52)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMARCB1	NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)	SNV	Pathogenic	30202	rs387906811	GRCh37: 22:24133992-24133992 GRCh38: 22:23791805-23791805
2	NF2	NM_000268.4(NF2):c.125_126insG (p.Gly43fs)	INSERT	Pathogenic	3299	rs587776564	GRCh37: 22:30032750-30032751 GRCh38: 22:29636761-29636762
3	NF2	NM_000268.4(NF2):c.205_211del (p.Lys69fs)	DEL	Pathogenic	3300	rs587776565	GRCh37: 22:30032830-30032836 GRCh38: 22:29636841-29636847
4	NF2	NM_000268.4(NF2):c.363+1G>A	SNV	Pathogenic	635372	rs1601583839	GRCh37: 22:30035202-30035202 GRCh38: 22:29639213-29639213
5	SMARCB1	NM_003073.5(SMARCB1):c.233-2_237del	DEL	Pathogenic	8029		GRCh37: 22:24135742-24135748 GRCh38: 22:23793555-23793561
6	NF2	NC_000022.11:g.(29668447_29671826)_(29681601_?)del	DEL	Pathogenic	3298		GRCh37: GRCh38: 22:29668447-29681601
7	SMARCB1	NM_003073.5(SMARCB1):c.747dup (p.Thr250fs)	DUP	Pathogenic	1686219		GRCh37: 22:24159071-24159072 GRCh38: 22:23816884-23816885
8	SMARCB1	NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs)	DEL	Pathogenic	1686218		GRCh37: 22:24135818-24135857 GRCh38: 22:23793631-23793670
9	SMARCB1	NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	SNV	Pathogenic	8031	rs267607072	GRCh37: 22:24129448-24129448 GRCh38: 22:23787261-23787261
10	SMARCB1	NM_003073.5(SMARCB1):c.629-361_795+2103dup	DUP	Pathogenic	8030		GRCh37: 22:24158592-24158593 GRCh38: 22:23816405-23816406
11	SMARCB1	NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)	INDEL	Pathogenic	8028	rs587776679	GRCh37: 22:24134052-24134065 GRCh38: 22:23791865-23791878
12	SMARCB1	NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	SNV	Pathogenic	8026	rs74315513	GRCh37: 22:24129390-24129390 GRCh38: 22:23787203-23787203
13	SMARCB1	NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	SNV	Likely Pathogenic	825898	rs1601405064	GRCh37: 22:24145549-24145549 GRCh38: 22:23803362-23803362
14	SMARCB1	NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	SNV	Uncertain Significance	340912	rs762962010	GRCh37: 22:24145588-24145588 GRCh38: 22:23803401-23803401
15	SMARCB1	NM_003073.5(SMARCB1):c.987-4G>C	SNV	Uncertain Significance	340915	rs745773662	GRCh37: 22:24175755-24175755 GRCh38: 22:23833568-23833568
16	SMARCB1	NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)	SNV	Uncertain Significance	410706	rs779769475	GRCh37: 22:24134007-24134007 GRCh38: 22:23791820-23791820
17	SMARCB1	NM_003073.5(SMARCB1):c.*100C>G	SNV	Uncertain Significance	903097	rs1363655817	GRCh37: 22:24176467-24176467 GRCh38: 22:23834280-23834280
18	SMARCB1	NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)	SNV	Uncertain Significance	532975	rs145695677	GRCh37: 22:24135822-24135822 GRCh38: 22:23793635-23793635
19	NF2	NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)	SNV	Uncertain Significance	457904	rs1049732514	GRCh37: 22:30077554-30077554 GRCh38: 22:29681565-29681565
20	NF2	NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	SNV	Uncertain Significance	565467	rs774824164	GRCh37: 22:30077472-30077472 GRCh38: 22:29681483-29681483
21	NF2	NM_000268.4(NF2):c.1232G>A (p.Arg411His)	SNV	Uncertain Significance	527695	rs201214090	GRCh37: 22:30069367-30069367 GRCh38: 22:29673378-29673378
22	NF2	NM_000268.4(NF2):c.215T>C (p.Val72Ala)	SNV	Uncertain Significance	569354	rs1260510937	GRCh37: 22:30032840-30032840 GRCh38: 22:29636851-29636851
23	NF2	NM_000268.4(NF2):c.4G>T (p.Ala2Ser)	SNV	Uncertain Significance	638486	rs1601515682	GRCh37: 22:29999991-29999991 GRCh38: 22:29604002-29604002
24	SMARCB1	NM_003073.5(SMARCB1):c.*279G>A	SNV	Uncertain Significance	340921	rs886057287	GRCh37: 22:24176646-24176646 GRCh38: 22:23834459-23834459
25	SMARCB1	NM_003073.5(SMARCB1):c.*113C>T	SNV	Uncertain Significance	340920	rs886057286	GRCh37: 22:24176480-24176480 GRCh38: 22:23834293-23834293
26	SMARCB1	NM_003073.5(SMARCB1):c.-107A>G	SNV	Uncertain Significance	340910	rs886057284	GRCh37: 22:24129250-24129250 GRCh38: 22:23787063-23787063
27	SMARCB1	NM_003073.5(SMARCB1):c.-157G>A	SNV	Uncertain Significance	340905	rs886057281	GRCh37: 22:24129200-24129200 GRCh38: 22:23787013-23787013
28	SMARCB1	NM_003073.5(SMARCB1):c.-148T>C	SNV	Uncertain Significance	340907	rs886057283	GRCh37: 22:24129209-24129209 GRCh38: 22:23787022-23787022
29	SMARCB1	NM_003073.5(SMARCB1):c.-83C>T	SNV	Uncertain Significance	903043	rs1374186002	GRCh37: 22:24129274-24129274 GRCh38: 22:23787087-23787087
30	SMARCB1	NM_003073.5(SMARCB1):c.1118+8T>C	SNV	Uncertain Significance	902212	rs2030796889	GRCh37: 22:24175898-24175898 GRCh38: 22:23833711-23833711
31	SMARCB1	NM_003073.5(SMARCB1):c.*307A>G	SNV	Uncertain Significance	900606	rs2030874248	GRCh37: 22:24176674-24176674 GRCh38: 22:23834487-23834487
32	SMARCB1	NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)	SNV	Uncertain Significance	900547	rs1930218305	GRCh37: 22:24158961-24158961 GRCh38: 22:23816774-23816774
33	SMARCB1	NM_003073.5(SMARCB1):c.*197A>C	SNV	Uncertain Significance	899472	rs1306414841	GRCh37: 22:24176564-24176564 GRCh38: 22:23834377-23834377
34	SMARCB1	NM_003073.5(SMARCB1):c.*159C>G	SNV	Uncertain Significance	899471	rs1022324232	GRCh37: 22:24176526-24176526 GRCh38: 22:23834339-23834339
35	SMARCB1	NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)	SNV	Likely Benign	416321	rs145934279	GRCh37: 22:24159024-24159024 GRCh38: 22:23816837-23816837
36	SMARCB1	NM_003073.5(SMARCB1):c.*17C>T	SNV	Likely Benign	340918	rs372348692	GRCh37: 22:24176384-24176384 GRCh38: 22:23834197-23834197
37	SMARCB1	NM_003073.5(SMARCB1):c.*15C>A	SNV	Likely Benign	340917	rs369400289	GRCh37: 22:24176382-24176382 GRCh38: 22:23834195-23834195
38	SMARCB1	NM_003073.5(SMARCB1):c.-17C>T	SNV	Benign	340911	rs372777519	GRCh37: 22:24129340-24129340 GRCh38: 22:23787153-23787153
39	SMARCB1	NM_003073.5(SMARCB1):c.*293C>T	SNV	Benign	340922	rs754865420	GRCh37: 22:24176660-24176660 GRCh38: 22:23834473-23834473
40	SMARCB1	NM_003073.5(SMARCB1):c.-117C>T	SNV	Benign	340908	rs11090285	GRCh37: 22:24129240-24129240 GRCh38: 22:23787053-23787053
41	SMARCB1	NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)	SNV	Benign	126368	rs2229354	GRCh37: 22:24167513-24167513 GRCh38: 22:23825326-23825326
42	SMARCB1	NM_003073.5(SMARCB1):c.362+7C>T	SNV	Benign	239483	rs34746244	GRCh37: 22:24135882-24135882 GRCh38: 22:23793695-23793695
43	SMARCB1	NM_003073.5(SMARCB1):c.-184G>A	SNV	Benign	900500	rs563943196	GRCh37: 22:24129173-24129173 GRCh38: 22:23786986-23786986
44	SMARCB1	NM_003073.5(SMARCB1):c.-115C>T	SNV	Benign	340909	rs551328283	GRCh37: 22:24129242-24129242 GRCh38: 22:23787055-23787055
45	SMARCB1	NM_003073.5(SMARCB1):c.*33T>G	SNV	Benign	903096	rs11541580	GRCh37: 22:24176400-24176400 GRCh38: 22:23834213-23834213
46	SMARCB1	NM_003073.5(SMARCB1):c.-31C>T	SNV	Benign	903044	rs34276473	GRCh37: 22:24129326-24129326 GRCh38: 22:23787139-23787139
47	SMARCB1	NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)	SNV	Benign	388704	rs187488637	GRCh37: 22:24167594-24167594 GRCh38: 22:23825407-23825407
48	SMARCB1	NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)	SNV	Benign	416325	rs149451748	GRCh37: 22:24175804-24175804 GRCh38: 22:23833617-23833617
49	SMARCB1	NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)	SNV	Benign	135257	rs367768260	GRCh37: 22:24129357-24129357 GRCh38: 22:23787170-23787170
50	SMARCB1	NM_003073.5(SMARCB1):c.628+13C>T	SNV	Benign	340913	rs184021903	GRCh37: 22:24145622-24145622 GRCh38: 22:23803435-23803435

Sources

Expression for Schwannomatosis 1

Search GEO for disease gene expression data for Schwannomatosis 1.

Sources

Pathways for Schwannomatosis 1

Sources

GO Terms for Schwannomatosis 1

Biological processes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell differentiation	GO:0045597	8.92	SMARCB1 NF2

Sources

Sources for Schwannomatosis 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SWNTS1 MCID: SCH077 MIFTS: 38	Schwannomatosis 1 (SWNTS1) Categories: Cancer diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Schwannomatosis 1 (SWNTS1)

Aliases & Classifications for Schwannomatosis 1

MalaCards integrated aliases for Schwannomatosis 1:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Schwannomatosis 1

Related Diseases for Schwannomatosis 1

Diseases in the Schwannomatosis 1 family:

Diseases related to Schwannomatosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Schwannomatosis 1:

Symptoms & Phenotypes for Schwannomatosis 1

Human phenotypes related to Schwannomatosis 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Schwannomatosis 1

Drugs for Schwannomatosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Schwannomatosis 1

Genetic tests related to Schwannomatosis 1:

Anatomical Context for Schwannomatosis 1

Organs/tissues related to Schwannomatosis 1:

Publications for Schwannomatosis 1

Articles related to Schwannomatosis 1:

Genes for Schwannomatosis 1

Genes related to Schwannomatosis 1 (2 elite genes):

Variations for Schwannomatosis 1

ClinVar genetic disease variations for Schwannomatosis 1:

Expression for Schwannomatosis 1

Pathways for Schwannomatosis 1

GO Terms for Schwannomatosis 1

Biological processes related to Schwannomatosis 1 according to GeneCards Suite gene sharing:

Sources for Schwannomatosis 1