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MCID: LMY001
MIFTS: 34

Leiomyoma Cutis

Categories: Cancer diseases, Skin diseases
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Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Leiomyoma Cutis

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MalaCards integrated aliases for Leiomyoma Cutis:

Name: Leiomyoma Cutis 11 14
Cutaneous Leiomyoma 11 28 5 71
Leiomyoma of the Skin 11

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:5132
NCIt 49 C4482
SNOMED-CT 68 254767008
UMLS 71 C0346064
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Summaries for Leiomyoma Cutis

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MalaCards based summary: Leiomyoma Cutis, also known as cutaneous leiomyoma, is related to leiomyoma and bizarre leiomyoma. An important gene associated with Leiomyoma Cutis is FH (Fumarate Hydratase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and glycolysis (BioCyc). Affiliated tissues include skin, kidney and smooth muscle, and related phenotypes are neoplasm and renal/urinary system
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Related Diseases for Leiomyoma Cutis

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 leiomyoma 31.0 MED12 FH COL4A6
2 bizarre leiomyoma 30.0 MED12 FH CALD1
3 myoma 29.9 MED12 FH CALD1
4 hereditary leiomyomatosis and renal cell cancer 29.8 SDHB FH
5 smooth muscle tumor 29.5 MED12 CALD1
6 paragangliomas 1 29.4 SDHD SDHB SDHA
7 glomus tumor 29.3 SDHD SDHB CALD1
8 bap1 tumor predisposition syndrome 29.1 SDHD SDHB SDHA FLCN FH
9 leiomyomatosis 29.1 SDHB MED12 FLCN FH COL4A6
10 inherited cancer-predisposing syndrome 29.0 SDHD SDHB SDHA FLCN FH
11 kidney cancer 29.0 SDHB FLCN FH CUL2
12 renal cell carcinoma, nonpapillary 28.4 TFE3 SDHB FLCN FH ELOC CUL2
13 scrotum melanoma 10.2 SDHD SDHA
14 foster-kennedy syndrome 10.2 SDHD SDHA
15 cardiomyopathy, dilated, 1gg 10.1 SDHA FH
16 breast leiomyoma 10.1 FH CALD1
17 mitochondrial complex ii deficiency, nuclear type 1 10.1 SDHD SDHA
18 oncocytoma 10.1 FNIP2 FLCN FH
19 diffuse peritoneal leiomyomatosis 10.1 MED12 CALD1
20 peritoneal benign neoplasm 10.1 MED12 CALD1
21 atypical polypoid adenomyoma 10.1 MED12 CALD1
22 adenomyoma 10.1 MED12 CALD1
23 cellular leiomyoma 10.1 MED12 CALD1
24 breast leiomyosarcoma 10.1 FH CALD1
25 familial renal oncocytoma 10.1 FNIP2 FNIP1 FLCN
26 multilocular clear cell renal cell carcinoma 10.1 FNIP2 FNIP1 FLCN
27 leiomyoma, uterine 10.1
28 pneumothorax, primary spontaneous 10.1 FNIP2 FNIP1 FLCN
29 colon leiomyoma 10.0 MED12 FH COL4A6
30 cutaneous leiomyosarcoma 10.0 FLCN FH CALD1
31 collecting duct carcinoma 10.0 TFE3 FLCN FH
32 reproductive organ benign neoplasm 10.0 MED12 FH CALD1
33 kidney angiomyolipoma 10.0 TFE3 FNIP1 FLCN
34 uterus perivascular epithelioid cell tumor 10.0 TFE3 CALD1
35 sporadic pheochromocytoma/secreting paraganglioma 10.0 SDHD SDHB
36 perivascular epithelioid cell tumor 9.9 TFE3 CALD1
37 fibroma 9.9
38 angiomyoma 9.9
39 retinal hemangioblastoma 9.9 ELOC CUL2
40 paragangliomas 4 9.9 SDHD SDHB
41 cowden syndrome 4 9.9 SDHB FLCN
42 carotid body cancer 9.9 SDHD SDHB
43 intravenous leiomyomatosis 9.9 MED12 COL4A6 CALD1
44 becker nevus syndrome 9.9
45 tumor predisposition syndrome 1 9.9
46 leiomyosarcoma 9.9
47 fh tumor predisposition syndrome 9.9
48 horner's syndrome 9.9 SDHD SDHB
49 cranial nerve palsy 9.9 SDHD SDHB
50 perivascular tumor 9.8 TFE3 CALD1

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



Diseases related to Leiomyoma Cutis
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Symptoms & Phenotypes for Leiomyoma Cutis

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MGI Mouse Phenotypes related to Leiomyoma Cutis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.55 FLCN FNIP1 FNIP2 SDHB SDHD
2 renal/urinary system MP:0005367 9.43 CALD1 FH FLCN FNIP1 FNIP2 SDHB
3 mortality/aging MP:0010768 9.36 CALD1 CUL2 FH FLCN FNIP1 FNIP2
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Drugs & Therapeutics for Leiomyoma Cutis

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene, and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752
2 Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes Not yet recruiting NCT05534854

Search NIH Clinical Center for Leiomyoma Cutis

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Genetic Tests for Leiomyoma Cutis

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Genetic tests related to Leiomyoma Cutis:

# Genetic test Affiliating Genes
1 Cutaneous Leiomyoma 28
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Anatomical Context for Leiomyoma Cutis

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Organs/tissues related to Leiomyoma Cutis:

MalaCards : Skin, Kidney, Smooth Muscle, Breast
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Publications for Leiomyoma Cutis

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Articles related to Leiomyoma Cutis:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Hereditary leiomyomatosis and acute lymphoblastic leukemia: A link through fumarate dyshydratase mutation? 62
34515613 2022
2
Cutaneous Leiomyoma: A Clinical Study of 152 Patients. 62
34569484 2022
3
A rare case of congenital piloleiomyoma of the eyelid. 62
32847448 2021
4
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients. 62
33063682 2021
5
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. 62
33461594 2021
6
Solitary cutaneous leiomyoma mimicking leishmaniasis. 62
32648954 2020
7
Multiple Cutaneous Leiomyomas Showing Increased FDG Uptake. 62
32701814 2020
8
Leiomyoma cutis of breast. 62
32596918 2020
9
Cutaneous Leiomyoma Mimicking a Keloid. 62
32876039 2020
10
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 62
32249909 2020
11
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report. 62
32154112 2020
12
Leiomyoma of the Foot: A Case Report. 62
30542633 2018
13
[Cutaneous leiomyoma: Correlation between dermatopathology and dermatoscopy]. 62
29397187 2018
14
Positive correlation of vanilloid receptor subtype1 and prostaglandin E2 expression with pain in leiomyomas. 62
28026039 2017
15
Solitary Piloleiomyoma in the Scalp. 62
28913307 2017
16
Multiple asymptomatic cutaneous pilar leiomyoma versus spontaneous eruptive keloids - a case report. 62
27151722 2016
17
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient. 62
26173633 2016
18
Desmoplastic Spitz Nevus Combined With Cutaneous Leiomyoma: A Rare Collision Tumor. 62
25171428 2015
19
Bilateral Multisegmental Zosteriform Leiomyoma Cutis: A Rare Entity. 62
26120160 2015
20
Leiomyoma cutis: a focused review on presentation, management, and association with malignancy. 62
25605645 2015
21
[Hereditary leiomyomatosis: a woman with red-brown nodules]. 62
25990335 2015
22
[cutaneous leiomyoma: another cause of leg ulcers]. 62
26889315 2015
23
Solitary pilar leiomyoma of the nasal dorsum: case report and literature review. 62
25657404 2015
24
Unusual presentation of cutaneous leiomyoma. 62
25484434 2014
25
Zosteriform cutaneous leiomyoma: a rare cutaneous neoplasm. 62
23930878 2013
26
Mobile leiomyoma of the skin. 62
23985216 2013
27
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. 62
23612258 2013
28
Cutaneous leiomyoma in a child: A case report. 62
23599756 2013
29
Cutaneous leiomyoma: novel histologic findings for classification and diagnosis. 62
23456580 2013
30
Atypical piloleiomyoma of the face presenting with central ulceration. 62
25386302 2011
31
Possible use of p53 in symplastic cutaneous leiomyoma. 62
21518385 2011
32
Leiomyoma cutis: a clinicopathological series of 37 cases. 62
21430885 2010
33
An ulcerated tumor in an infant. 62
20409416 2010
34
Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. 62
19939761 2009
35
Solitary cutaneous leiomyoma in an infant. 62
19840329 2009
36
Multiple cutaneous leiomyomas: pain relief with pulsed hysocine butyl bromide. 62
20049277 2009
37
Acral calcified vascular leiomyoma of the skin: a rare clinicopathological variant of cutaneous vascular leiomyomas: report of 3 cases. 62
19022102 2008
38
Multiple leiomyoma as a possible sign of aggressive renal cancer. 62
18986449 2008
39
[Hyperkeratotic lesion of the nipple revealing cutaneous leiomyoma]. 62
18789291 2008
40
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. 62
18514489 2008
41
[Zosteriform cutaneous leiomyoma. Satisfactory treatment with oral doxazosin]. 62
17669306 2007
42
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. 62
16625070 2006
43
Cutaneous leiomyoma with cytologic atypia, akin to uterine symplastic leiomyoma. 62
15355371 2004
44
Familial cutaneous and uterine leiomyomas: case report. 62
14670220 2003
45
[Multiple familial cutaneous leiomyoma]. 62
14724535 2003
46
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 62
12183404 2002
47
Zosteriform pilar leiomyoma. 62
11804075 2001
48
Atypical pilar leiomyoma: cutaneous counterpart of uterine symplastic leiomyoma? 62
11481520 2001
49
Zosteriform and disseminated lesions in cutaneous leiomyoma. 62
11243642 2000
50
Association of multiple familial cutaneous leiomyoma with a uterine symplastic leiomyoma. 62
10671972 2000
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Variations for Leiomyoma Cutis

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ClinVar genetic disease variations for Leiomyoma Cutis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FH NM_000143.4(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

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Search GEO for disease gene expression data for Leiomyoma Cutis.
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Pathways for Leiomyoma Cutis

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

# Super pathways Score Top Affiliating Genes
1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 12.49 SDHD SDHB SDHA FH
2
glycolysis (BioCyc) 61
Show member pathways
 11.95 SDHD SDHB SDHA FH
3
Pyruvate metabolism 66
Show member pathways
 11.6 SDHD SDHB SDHA FH
4
TCA cycle III (animals) 61
Show member pathways
 11.41 SDHD SDHB SDHA FH
5
Metabolic reprogramming in colon cancer 74
11.08 SDHB FH
6
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 61
10.63 ELOC CUL2
7
Hijack of ubiquitination by SARS-CoV-2 74
Show member pathways
 10.57 ELOC CUL2
8
Type 2 papillary renal cell carcinoma 74
10.46 TFE3 FH ELOC CUL2
9
Mitochondrial complex II assembly 74
Show member pathways
 10.21 SDHD SDHB SDHA
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GO Terms for Leiomyoma Cutis

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

# Name GO ID Score Top Affiliating Genes
1 Cul2-RING ubiquitin ligase complex GO:0031462 9.26 ELOC CUL2
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.1 SDHD SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.85 SDHD SDHB SDHA
2 regulation of protein phosphorylation GO:0001932 9.8 FNIP2 FNIP1 FLCN
3 TOR signaling GO:0031929 9.73 FNIP1 FLCN
4 respiratory electron transport chain GO:0022904 9.71 SDHB SDHA
5 succinate metabolic process GO:0006105 9.56 SDHA SDHB
6 tricarboxylic acid cycle GO:0006099 9.56 SDHD SDHB SDHA FH
7 regulation of pro-B cell differentiation GO:2000973 9.46 FNIP1 FLCN
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.1 SDHD SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.73 SDHD SDHB SDHA
2 ubiquinone binding GO:0048039 9.46 SDHD SDHB
3 ATPase inhibitor activity GO:0042030 9.26 FNIP2 FNIP1
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.1 SDHD SDHB SDHA
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Sources for Leiomyoma Cutis

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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