MCID: LMY001
MIFTS: 32

Leiomyoma Cutis

Categories: Cancer diseases, Skin diseases

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:



External Ids:

Disease Ontology 12 DOID:5132
NCIt 50 C4482
SNOMED-CT 67 254767008
UMLS 70 C0346064

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.

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:



Diseases related to Leiomyoma Cutis

Symptoms & Phenotypes for Leiomyoma Cutis

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
1
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
2 abobotulinumtoxinA Phase 2
3 Neurotransmitter Agents Phase 2
4 Cholinergic Agents Phase 2
5 Botulinum Toxins Phase 2
6 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

Genetic Tests for Leiomyoma Cutis

Genetic tests related to Leiomyoma Cutis:

# Genetic test Affiliating Genes
1 Cutaneous Leiomyoma 29

Anatomical Context for Leiomyoma Cutis

MalaCards organs/tissues related to Leiomyoma Cutis:

40
Skin, Smooth Muscle

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
33063682 2021
2
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. 61
33461594 2021
3
Solitary cutaneous leiomyoma mimicking leishmaniasis. 61
32648954 2020
4
Multiple Cutaneous Leiomyomas Showing Increased FDG Uptake. 61
32701814 2020
5
Leiomyoma cutis of breast. 61
32596918 2020
6
A rare case of congenital piloleiomyoma of the eyelid. 61
32847448 2020
7
Cutaneous Leiomyoma Mimicking a Keloid. 61
32876039 2020
8
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 61
32249909 2020
9
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report. 61
32154112 2020
10
Leiomyoma of the Foot: A Case Report. 61
30542633 2018
11
[Cutaneous leiomyoma: Correlation between dermatopathology and dermatoscopy]. 61
29397187 2018
12
Positive correlation of vanilloid receptor subtype1 and prostaglandin E2 expression with pain in leiomyomas. 61
28026039 2017
13
Solitary Piloleiomyoma in the Scalp. 61
28913307 2017
14
Multiple asymptomatic cutaneous pilar leiomyoma versus spontaneous eruptive keloids - a case report. 61
27151722 2016
15
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient. 61
26173633 2016
16
Desmoplastic Spitz Nevus Combined With Cutaneous Leiomyoma: A Rare Collision Tumor. 61
25171428 2015
17
Bilateral Multisegmental Zosteriform Leiomyoma Cutis: A Rare Entity. 61
26120160 2015
18
Leiomyoma cutis: a focused review on presentation, management, and association with malignancy. 61
25605645 2015
19
[Hereditary leiomyomatosis: a woman with red-brown nodules]. 61
25990335 2015
20
[cutaneous leiomyoma: another cause of leg ulcers]. 61
26889315 2015
21
Solitary pilar leiomyoma of the nasal dorsum: case report and literature review. 61
25657404 2015
22
Unusual presentation of cutaneous leiomyoma. 61
25484434 2014
23
Zosteriform cutaneous leiomyoma: a rare cutaneous neoplasm. 61
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
23612258 2013
25
Cutaneous leiomyoma in a child: A case report. 61
23599756 2013
26
Cutaneous leiomyoma: novel histologic findings for classification and diagnosis. 61
23456580 2013
27
Possible use of p53 in symplastic cutaneous leiomyoma. 61
21518385 2011
28
Atypical piloleiomyoma of the face presenting with central ulceration. 61
25386302 2011
29
Leiomyoma cutis: a clinicopathological series of 37 cases. 61
21430885 2010
30
An ulcerated tumor in an infant. 61
20409416 2010
31
Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. 61
19939761 2009
32
Solitary cutaneous leiomyoma in an infant. 61
19840329 2009
33
Multiple cutaneous leiomyomas: pain relief with pulsed hysocine butyl bromide. 61
20049277 2009
34
Acral calcified vascular leiomyoma of the skin: a rare clinicopathological variant of cutaneous vascular leiomyomas: report of 3 cases. 61
19022102 2008
35
Multiple leiomyoma as a possible sign of aggressive renal cancer. 61
18986449 2008
36
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. 61
18514489 2008
37
[Hyperkeratotic lesion of the nipple revealing cutaneous leiomyoma]. 61
18789291 2008
38
[Zosteriform cutaneous leiomyoma. Satisfactory treatment with oral doxazosin]. 61
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
16625070 2006
40
Cutaneous leiomyoma with cytologic atypia, akin to uterine symplastic leiomyoma. 61
15355371 2004
41
Familial cutaneous and uterine leiomyomas: case report. 61
14670220 2003
42
[Multiple familial cutaneous leiomyoma]. 61
14724535 2003
43
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 61
12183404 2002
44
Zosteriform pilar leiomyoma. 61
11804075 2001
45
Atypical pilar leiomyoma: cutaneous counterpart of uterine symplastic leiomyoma? 61
11481520 2001
46
Zosteriform and disseminated lesions in cutaneous leiomyoma. 61
11243642 2000
47
Association of multiple familial cutaneous leiomyoma with a uterine symplastic leiomyoma. 61
10671972 2000
48
Verocay body-prominent cutaneous leiomyoma. 61
10027539 1999
49
Multiple leiomyoma cutis associated with Becker's nevus. 61
8973041 1996
50
Multiple piloleiomyomas in a cat. 61
8543677 1995

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

Expression for Leiomyoma Cutis

Search GEO for disease gene expression data for Leiomyoma Cutis.

Pathways for Leiomyoma Cutis

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

Sources for Leiomyoma Cutis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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