Leiomyoma Cutis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LMY001 MIFTS: 32	Leiomyoma Cutis Categories: Cancer diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Leiomyoma Cutis

MalaCards integrated aliases for Leiomyoma Cutis:

Name: Leiomyoma Cutis ¹² ¹⁵

Cutaneous Leiomyoma ¹² ²⁹ ⁶ ⁷⁰

Leiomyoma of the Skin ¹²

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:5132

NCIt ⁵⁰ C4482

SNOMED-CT ⁶⁷ 254767008

UMLS ⁷⁰ C0346064

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Summaries for Leiomyoma Cutis

MalaCards based summary : Leiomyoma Cutis, also known as cutaneous leiomyoma, is related to leiomyoma and intravenous leiomyomatosis. An important gene associated with Leiomyoma Cutis is FH (Fumarate Hydratase), and among its related pathways/superpathways are Pathways in cancer and mTOR signaling pathway (KEGG). The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include skin and smooth muscle.

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Related Diseases for Leiomyoma Cutis

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

(show top 50) (show all 65)

#	Related Disease	Score	Top Affiliating Genes
1	leiomyoma	30.9	MED12 FH COL4A6
2	intravenous leiomyomatosis	30.0	MED12 CALD1
3	bizarre leiomyoma	29.9	MED12 FH CALD1
4	myoma	29.7	MED12 FH CALD1
5	smooth muscle tumor	29.6	MED12 CALD1
6	leiomyomatosis	29.6	MED12 FLCN FH COL4A6
7	glomus tumor	29.3	SDHD CALD1
8	colon leiomyoma	10.2	MED12 FH
9	kidney angiomyolipoma	10.2	FNIP1 FLCN
10	pneumothorax, primary spontaneous	10.2	FNIP1 FLCN
11	skin tag	10.1	FNIP1 FLCN
12	gastric leiomyoma	10.1	FH CALD1
13	diffuse peritoneal leiomyomatosis	10.1	MED12 CALD1
14	kidney benign neoplasm	10.1	FNIP1 FLCN
15	peritoneal benign neoplasm	10.1	MED12 CALD1
16	cutaneous leiomyosarcoma	10.1	FH CALD1
17	cellular leiomyoma	10.1	MED12 CALD1
18	atypical polypoid adenomyoma	10.1	MED12 CALD1
19	adenomyoma	10.1	MED12 CALD1
20	oncocytoma	10.1	FNIP2 FLCN FH
21	angiolipoma	10.1	FLCN CALD1
22	familial renal oncocytoma	10.1	FNIP2 FNIP1 FLCN
23	leiomyoma, uterine	10.1
24	multilocular clear cell renal cell carcinoma	10.1	FNIP2 FNIP1 FLCN
25	bladder sarcoma	10.0	MED12 CALD1
26	uterine benign neoplasm	10.0	MED12 FH CALD1
27	reproductive organ benign neoplasm	10.0	MED12 FH CALD1
28	congenital heart defects, hamartomas of tongue, and polysyndactyly	10.0
29	fibroma	9.9
30	angiomyoma	9.9
31	birt-hogg-dube syndrome	9.9	FNIP2 FNIP1 FLCN FH
32	hereditary leiomyomatosis and renal cell cancer	9.9
33	becker nevus syndrome	9.9
34	tumor predisposition syndrome	9.9
35	leiomyosarcoma	9.9
36	fh tumor predisposition syndrome	9.9
37	persistent generalized lymphadenopathy	9.9	SDHD FH
38	blue rubber bleb nevus	9.8
39	dowling-degos disease 1	9.8
40	kala-azar 1	9.8
41	leukemia, chronic myeloid	9.8
42	cutaneous telangiectasia and cancer syndrome, familial	9.8
43	keratosis	9.8
44	neuroma	9.8
45	cutaneous fibrous histiocytoma	9.8
46	polycythemia	9.8
47	myeloid leukemia	9.8
48	leishmaniasis	9.8
49	neurofibroma	9.8
50	keloid disorder	9.8

Graphical network of the top 20 diseases related to Leiomyoma Cutis:

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Symptoms & Phenotypes for Leiomyoma Cutis

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Drugs & Therapeutics for Leiomyoma Cutis

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

(show all 6)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcholine

Approved, Investigational

Phase 2

51-84-3

187

Synonyms:

2-(Acetyloxy)-N,N,N-trimethylethanaminium

Acetilcolina cusi

Acetyl choline ion

Acetylcholine

Acetylcholine bromide

Acetylcholine cation

acetylcholine chloride

Acetylcholine chloride

Acetylcholine fluoride

Acetylcholine hydroxide

Acetylcholine iodide

Acetylcholine L tartrate

Acetylcholine L-tartrate

Acetylcholine perchlorate

Acetylcholine picrate

Acetylcholine picrate (1:1)

Acetylcholine sulfate (1:1)

Acetylcholinium: acetyl-choline

ACh

Alcon brand OF acetylcholine chloride

Azetylcholin

Bournonville brand OF acetylcholine chloride

Bromide, acetylcholine

Bromoacetylcholine

Chloroacetylcholine

Choline acetate

Choline acetate (ester)

Choline acetic acid

Ciba vision brand OF acetylcholine chloride

Cusi, acetilcolina

Fluoride, acetylcholine

Hydroxide, acetylcholine

Iodide, acetylcholine

Iolab brand OF acetylcholine chloride

L-Tartrate, acetylcholine

Miochol

O-Acetylcholine

Perchlorate, acetylcholine

abobotulinumtoxinA

Phase 2

Neurotransmitter Agents

Phase 2

Cholinergic Agents

Phase 2

Botulinum Toxins

Phase 2

Botulinum Toxins, Type A

Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin	Completed	NCT00971620	Phase 2

Search NIH Clinical Center for Leiomyoma Cutis

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Genetic Tests for Leiomyoma Cutis

Genetic tests related to Leiomyoma Cutis:

#	Genetic test	Affiliating Genes
1	Cutaneous Leiomyoma ²⁹

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Anatomical Context for Leiomyoma Cutis

MalaCards organs/tissues related to Leiomyoma Cutis:

⁴⁰

Skin, Smooth Muscle

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Publications for Leiomyoma Cutis

Articles related to Leiomyoma Cutis:

(show top 50) (show all 91)

#	Title	Authors	PMID	Year
1	Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients. ⁶¹	Seo JY...Park I	33063682	2021
2	Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. ⁶¹	Chayed Z...Bygum A	33461594	2021
3	Solitary cutaneous leiomyoma mimicking leishmaniasis. ⁶¹	Guder S...Kelahmetoglu O	32648954	2020
4	Multiple Cutaneous Leiomyomas Showing Increased FDG Uptake. ⁶¹	Ji X...Dong A	32701814	2020
5	Leiomyoma cutis of breast. ⁶¹	Thakur V...Radotra BD	32596918	2020
6	A rare case of congenital piloleiomyoma of the eyelid. ⁶¹	Alam S...Krishnakumar S	32847448	2020
7	Cutaneous Leiomyoma Mimicking a Keloid. ⁶¹	Boyuk E...Arik D	32876039	2020
8	Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. ⁶¹	Suda K...Takahashi Y	32249909	2020
9	Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report. ⁶¹	Yonamine T...Saito S	32154112	2020
10	Leiomyoma of the Foot: A Case Report. ⁶¹	Buddemeyer K...Shah A	30542633	2018
11	[Cutaneous leiomyoma: Correlation between dermatopathology and dermatoscopy]. ⁶¹	Huet P...Cribier B	29397187	2018
12	Positive correlation of vanilloid receptor subtype1 and prostaglandin E2 expression with pain in leiomyomas. ⁶¹	Kagimoto Y...Aiba S	28026039	2017
13	Solitary Piloleiomyoma in the Scalp. ⁶¹	Kim DH...Lee JH	28913307	2017
14	Multiple asymptomatic cutaneous pilar leiomyoma versus spontaneous eruptive keloids - a case report. ⁶¹	Morariu SH...Cotoi OS	27151722	2016
15	Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient. ⁶¹	Yoshinaga Y...Shimomura Y	26173633	2016
16	Desmoplastic Spitz Nevus Combined With Cutaneous Leiomyoma: A Rare Collision Tumor. ⁶¹	Ieremia E...Calonje E	25171428	2015
17	Bilateral Multisegmental Zosteriform Leiomyoma Cutis: A Rare Entity. ⁶¹	Bandyopadhyay D...Bhattacharya S	26120160	2015
18	Leiomyoma cutis: a focused review on presentation, management, and association with malignancy. ⁶¹	Malik K...Khachemoune A	25605645	2015
19	[Hereditary leiomyomatosis: a woman with red-brown nodules]. ⁶¹	Brouwer MW...van Os TA	25990335	2015
20	[cutaneous leiomyoma: another cause of leg ulcers]. ⁶¹	Ouakrim R...Mahfoud M	26889315	2015
21	Solitary pilar leiomyoma of the nasal dorsum: case report and literature review. ⁶¹	Hoyt BS...Cohen PR	25657404	2015
22	Unusual presentation of cutaneous leiomyoma. ⁶¹	Bhaskar S...Santosh K	25484434	2014
23	Zosteriform cutaneous leiomyoma: a rare cutaneous neoplasm. ⁶¹	Arfan-ul-Bari	23930878	2013
24	Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. ⁶¹	Ezgu F...Wilcox WR	23612258	2013
25	Cutaneous leiomyoma in a child: A case report. ⁶¹	Dilek N...Saral Y	23599756	2013
26	Cutaneous leiomyoma: novel histologic findings for classification and diagnosis. ⁶¹	Ghanadan A...Kamyab Hesari K	23456580	2013
27	Possible use of p53 in symplastic cutaneous leiomyoma. ⁶¹	Fernandez-Flores A	21518385	2011
28	Atypical piloleiomyoma of the face presenting with central ulceration. ⁶¹	Pileri A...Patrizi A	25386302	2011
29	Leiomyoma cutis: a clinicopathological series of 37 cases. ⁶¹	Malhotra P...Ramesh V	21430885	2010
30	An ulcerated tumor in an infant. ⁶¹	Lotfi S...Qaisari M	20409416	2010
31	Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. ⁶¹	Badeloe S...Frank J	19939761	2009
32	Solitary cutaneous leiomyoma in an infant. ⁶¹	Robati RM...Moradloo M	19840329	2009
33	Multiple cutaneous leiomyomas: pain relief with pulsed hysocine butyl bromide. ⁶¹	Kaliyadan F...Dharmaratnam AD	20049277	2009
34	Acral calcified vascular leiomyoma of the skin: a rare clinicopathological variant of cutaneous vascular leiomyomas: report of 3 cases. ⁶¹	Kacerovska D...Kazakov DV	19022102	2008
35	Multiple leiomyoma as a possible sign of aggressive renal cancer. ⁶¹	Chia MW...Tan SH	18986449	2008
36	Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. ⁶¹	Badeloe S...Frank J	18514489	2008
37	[Hyperkeratotic lesion of the nipple revealing cutaneous leiomyoma]. ⁶¹	Samimi M...Esteve E	18789291	2008
38	[Zosteriform cutaneous leiomyoma. Satisfactory treatment with oral doxazosin]. ⁶¹	Chaves AJ...Catalina M	17669306	2007
39	Differential expression of smooth muscle myosin, smooth muscle actin, h-caldesmon, and calponin in the diagnosis of myofibroblastic and smooth muscle lesions of skin and soft tissue. ⁶¹	Perez-Montiel MD...Suster S	16625070	2006
40	Cutaneous leiomyoma with cytologic atypia, akin to uterine symplastic leiomyoma. ⁶¹	Matthews JH...Leshin B	15355371	2004
41	Familial cutaneous and uterine leiomyomas: case report. ⁶¹	Cislo M...Nockowski P	14670220	2003
42	[Multiple familial cutaneous leiomyoma]. ⁶¹	Cairey-Remonnay S...Laurent R	14724535	2003
43	Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. ⁶¹	Kiuru M...Aaltonen LA	12183404	2002
44	Zosteriform pilar leiomyoma. ⁶¹	Sahoo B...Kumar B	11804075	2001
45	Atypical pilar leiomyoma: cutaneous counterpart of uterine symplastic leiomyoma? ⁶¹	Mahalingam M...Goldberg LJ	11481520	2001
46	Zosteriform and disseminated lesions in cutaneous leiomyoma. ⁶¹	Agarwalla A...Agrawal S	11243642	2000
47	Association of multiple familial cutaneous leiomyoma with a uterine symplastic leiomyoma. ⁶¹	Fearfield LA...Staughton RC	10671972	2000
48	Verocay body-prominent cutaneous leiomyoma. ⁶¹	Lespi PJ...Smit R	10027539	1999
49	Multiple leiomyoma cutis associated with Becker's nevus. ⁶¹	Thappa DM...Ratnakar C	8973041	1996
50	Multiple piloleiomyomas in a cat. ⁶¹	Finnie JW...Milios J	8543677	1995

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Genes for Leiomyoma Cutis

Genes related to Leiomyoma Cutis (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FH	Fumarate Hydratase	Protein Coding	33.36	Likely pathogenic ⁶ DISEASES inferred ¹⁵
2	MED12	Mediator Complex Subunit 12	Protein Coding	6.14	DISEASES inferred ¹⁵
3	FLCN	Folliculin	Protein Coding	5.95	DISEASES inferred ¹⁵
4	FNIP1	Folliculin Interacting Protein 1	Protein Coding	5.68	DISEASES inferred ¹⁵
5	FNIP2	Folliculin Interacting Protein 2	Protein Coding	5.65	DISEASES inferred ¹⁵
6	WDR64	WD Repeat Domain 64	Protein Coding	5.64	DISEASES inferred ¹⁵
7	ELOC	Elongin C	Protein Coding	5.62	DISEASES inferred ¹⁵
8	CUL2	Cullin 2	Protein Coding	5.6	DISEASES inferred ¹⁵
9	CALD1	Caldesmon 1	Protein Coding	5.48	DISEASES inferred ¹⁵
10	ELOB	Elongin B	Protein Coding	5.47	DISEASES inferred ¹⁵
11	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	5.47	DISEASES inferred ¹⁵
12	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	5.46	DISEASES inferred ¹⁵

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Variations for Leiomyoma Cutis

ClinVar genetic disease variations for Leiomyoma Cutis:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FH	NM_000143.3(FH):c.322C>T (p.Gln108Ter)	SNV	Likely pathogenic	393560	rs1060499630	GRCh37: 1:241676959-241676959 GRCh38: 1:241513659-241513659

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Expression for Leiomyoma Cutis

Search GEO for disease gene expression data for Leiomyoma Cutis.

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Pathways for Leiomyoma Cutis

Pathways related to Leiomyoma Cutis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁶	12.38	FH ELOC ELOB CUL2 COL4A6
2	mTOR signaling pathway (KEGG) ³⁶ Show member pathways mTOR Signaling Pathway ⁶⁴	12.1	FNIP2 FNIP1 FLCN
3	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	11.91	FLCN FH ELOC ELOB CUL2
4	Ubiquitin mediated proteolysis ³⁶	11.73	ELOC ELOB CUL2
5	HIF-1 signaling pathway ³⁶	11.58	ELOC ELOB CUL2
6	HIF1Alpha Pathway ⁶³	11.06	ELOC ELOB CUL2
7	HIF-2-alpha transcription factor network ¹	10.96	ELOC ELOB
8	Dual hijack model of Vif in HIV infection ¹	10.28	ELOC ELOB
9	Hypoxic and oxygen homeostasis regulation of HIF-1-alpha ¹	9.98	ELOC ELOB CUL2

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GO Terms for Leiomyoma Cutis

Cellular components related to Leiomyoma Cutis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	elongin complex	GO:0070449	9.16	ELOC ELOB
2	Cul2-RING ubiquitin ligase complex	GO:0031462	9.13	ELOC ELOB CUL2
3	VCB complex	GO:0030891	8.8	ELOC ELOB CUL2

Biological processes related to Leiomyoma Cutis according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein ubiquitination	GO:0016567	9.78	MED12 ELOC ELOB CUL2
2	positive regulation of protein complex assembly	GO:0031334	9.49	FNIP2 FNIP1
3	positive regulation of TOR signaling	GO:0032008	9.46	FNIP1 FLCN
4	tricarboxylic acid cycle	GO:0006099	9.43	SDHD FH
5	regulation of transcription from RNA polymerase II promoter in response to hypoxia	GO:0061418	9.43	ELOC ELOB CUL2
6	negative regulation of TOR signaling	GO:0032007	9.4	FNIP1 FLCN
7	translational elongation	GO:0006414	9.37	ELOC ELOB
8	regulation of protein phosphorylation	GO:0001932	9.33	FNIP2 FNIP1 FLCN
9	TOR signaling	GO:0031929	9.32	FNIP1 FLCN
10	negative regulation of mitochondrion organization	GO:0010823	8.96	FNIP1 FLCN
11	regulation of pro-B cell differentiation	GO:2000973	8.62	FNIP1 FLCN

Molecular functions related to Leiomyoma Cutis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation elongation factor activity	GO:0003746	8.96	ELOC ELOB
2	ATPase inhibitor activity	GO:0042030	8.62	FNIP2 FNIP1

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Sources for Leiomyoma Cutis

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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia