MCID: ESP014
MIFTS: 31

Esophagus Leiomyoma

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Esophagus Leiomyoma

MalaCards integrated aliases for Esophagus Leiomyoma:

Name: Esophagus Leiomyoma 12 15
Leiomyoma of Esophagus 71

Classifications:



External Ids:

Disease Ontology 12 DOID:960
NCIt 49 C3866
UMLS 71 C0238114

Summaries for Esophagus Leiomyoma

MalaCards based summary : Esophagus Leiomyoma, also known as leiomyoma of esophagus, is related to leiomyoma of vulva and esophagus and leiomyoma. An important gene associated with Esophagus Leiomyoma is MRPS22 (Mitochondrial Ribosomal Protein S22), and among its related pathways/superpathways are Pathways in cancer and ErbB signaling pathway. Affiliated tissues include breast, lymph node and small intestine, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Esophagus Leiomyoma

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 leiomyoma of vulva and esophagus 11.4
2 leiomyoma 10.8
3 autosomal dominant secondary polycythemia 10.3 EPAS1 EGLN1
4 hemangioma of liver 10.3 VHL PGLS
5 retinal hemangioblastoma 10.2 VHL TMEM127 EPAS1
6 acquired polycythemia 10.2 EPAS1 EGLN1
7 leiomyoma cutis 10.1 SDHD SDHA
8 esophageal cancer 10.1
9 leiomyosarcoma 10.1
10 dysphagia 10.1
11 polycythemia 10.1 VHL EPAS1 EGLN1
12 foster-kennedy syndrome 10.0 SDHD SDHAF2 SDHA
13 adult malignant schwannoma 10.0 NF1 MAX
14 extracranial neuroblastoma 9.9 SDHD SDHB
15 acute mountain sickness 9.9 VHL EGLN1
16 hernia, hiatus 9.9
17 hemangioma 9.9
18 achalasia 9.9
19 rare tumor 9.9
20 plethora of newborn 9.9 SDHD PGLS EPAS1 EGLN1
21 lymphatic system disease 9.9 SDHD SDHB PGLS
22 small intestine leiomyoma 9.9 PDGFRA NF1
23 clear cell renal cell carcinoma 9.8 VHL TMEM127 EPAS1 EGLN3
24 duodenal somatostatinoma 9.8 PGLS NF1 EPAS1 EGLN1
25 medullary sponge kidney 9.8 RET GDNF
26 neurofibromatosis, type i 9.8 SDHD PDGFRA NF1
27 erythrocytosis, familial, 2 9.7 VHL EPAS1 EGLN3 EGLN2 EGLN1
28 hypoganglionosis 9.7 RET GDNF
29 hypoxia 9.7 VHL EPAS1 EGLN3 EGLN2 EGLN1
30 central nervous system hemangioma 9.7 RET NF1
31 paraganglioma and gastric stromal sarcoma 9.7 SDHD SDHC SDHB
32 mixed glioma 9.7 PDGFRA NF1
33 spastic paraplegia 38, autosomal dominant 9.7 SDHB SDHA
34 skin lipoma 9.7 RET NF1
35 multiple mucosal neuroma 9.6 RET PGLS GDNF
36 thyroid carcinoma, familial medullary 9.5 VHL RET GDNF
37 carney complex variant 9.4 SDHD RET NF1
38 neuroma 9.4 RET NF1 GDNF
39 neuroendocrine tumor 9.3 VHL SDHD SDHB RET
40 neural crest tumor 9.3 SDHD SDHC SDHB SDHAF2 SDHA
41 cowden syndrome 1 9.3 SDHB RET NF1
42 mitochondrial complex ii deficiency 9.3 SDHD SDHC SDHB SDHAF2 SDHA
43 paragangliomas 1 9.1 SDHD SDHC SDHB RET
44 mitochondrial metabolism disease 9.1 SDHD SDHC SDHB SDHAF2 SDHA MRPS22
45 carney triad 9.1 SDHD SDHC SDHB SDHA PDGFRA
46 leigh syndrome 9.1 SDHD SDHC SDHB SDHAF2 SDHA MRPS22
47 gastric leiomyosarcoma 8.9 SDHD SDHC SDHB SDHA PGLS PDGFRA
48 autonomic nervous system benign neoplasm 8.9 TMEM127 SDHD SDHB RET NF1 MAX
49 peripheral nervous system benign neoplasm 8.9 TMEM127 SDHD SDHB RET NF1 MAX
50 cerebellar angioblastoma 8.9 VHL SDHD SDHC SDHB SDHA PDGFRA

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



Diseases related to Esophagus Leiomyoma

Symptoms & Phenotypes for Esophagus Leiomyoma

GenomeRNAi Phenotypes related to Esophagus Leiomyoma according to GeneCards Suite gene sharing:

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.35 PDGFRA
2 Decreased viability GR00221-A-1 10.35 NF1 PDGFRA RET SDHD VHL
3 Decreased viability GR00221-A-2 10.35 NF1 RET SDHD VHL EGLN3 MAX
4 Decreased viability GR00221-A-3 10.35 PDGFRA MAX
5 Decreased viability GR00221-A-4 10.35 NF1 PDGFRA RET SDHD
6 Decreased viability GR00231-A 10.35 RET
7 Decreased viability GR00301-A 10.35 RET VHL EGLN3
8 Decreased viability GR00381-A-1 10.35 SDHD EGLN3
9 Decreased viability GR00402-S-2 10.35 NF1 PDGFRA RET SDHD VHL EGLN3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 PGLS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.72 EGLN2 PGLS RET SDHC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.72 EGLN2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 EGLN2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 RET
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 RET
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 PGLS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.72 EGLN2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.72 SDHC
19 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.72 EGLN2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.72 EGLN2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.72 SDHC
22 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.72 EGLN2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 RET
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 RET
25 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 EGLN2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.72 RET
27 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 SDHC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 RET
29 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 SDHC
30 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.72 EGLN2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 RET
32 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 NF1 VHL

MGI Mouse Phenotypes related to Esophagus Leiomyoma:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
2 embryo MP:0005380 10.31 EGLN1 EGLN2 EGLN3 EPAS1 KIF1B MAX
3 cardiovascular system MP:0005385 10.28 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
4 homeostasis/metabolism MP:0005376 10.28 EGLN1 EGLN2 EGLN3 EPAS1 KIF1B NF1
5 hematopoietic system MP:0005397 10.27 EGLN1 EGLN2 EGLN3 EPAS1 GDNF NF1
6 cellular MP:0005384 10.26 EGLN1 EGLN2 EGLN3 GDNF MAX NF1
7 mortality/aging MP:0010768 10.22 EGLN1 EGLN3 EPAS1 GDNF KIF1B MAX
8 craniofacial MP:0005382 10.11 EGLN1 EGLN2 EGLN3 KIF1B NF1 PDGFRA
9 immune system MP:0005387 10.1 EGLN1 EGLN2 EGLN3 EPAS1 GDNF NF1
10 muscle MP:0005369 9.96 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
11 limbs/digits/tail MP:0005371 9.91 EGLN2 EGLN3 KIF1B NF1 PDGFRA RET
12 neoplasm MP:0002006 9.63 NF1 PDGFRA RET SDHB SDHD VHL
13 renal/urinary system MP:0005367 9.5 EGLN1 GDNF NF1 PDGFRA RET SDHB
14 skeleton MP:0005390 9.32 EGLN1 EGLN3 EPAS1 KIF1B MRPS22 NF1

Drugs & Therapeutics for Esophagus Leiomyoma

Search Clinical Trials , NIH Clinical Center for Esophagus Leiomyoma

Genetic Tests for Esophagus Leiomyoma

Anatomical Context for Esophagus Leiomyoma

MalaCards organs/tissues related to Esophagus Leiomyoma:

40
Breast, Lymph Node, Small Intestine, Kidney, Liver, Thyroid, Skin

Publications for Esophagus Leiomyoma

Articles related to Esophagus Leiomyoma:

(show all 19)
# Title Authors PMID Year
1
Videoendoscopic surgery for the treatment of esophagus' leiomyoma. 61
24190384 2013
2
Leiomyoma of esophagus presenting as huge posterior mediastinal mass: 2 case reports. 61
23134934 2012
3
Leiomyoma of breast: a report of rare case. 61
19253869 2008
4
Leiomyoma of esophagus. 61
17505413 2007
5
[Application of video-assisted thoracoscopic surgery in thoracic tumors]. 61
21144311 2006
6
Surgical treatment of giant esophageal leiomyoma. 61
16015702 2005
7
[Surgery for benign submucosal tumors of the esophagus (leiomyoma and hemangioma)]. 61
14574712 2003
8
Gastrointestinal stromal tumors: recent advances in understanding of their biology. 61
10534170 1999
9
Pedunculated large leiomyoma of esophagus. 61
9465517 1998
10
[Solitary neurofibroma of the esophagus]. 61
1520551 1992
11
[Esophageal and gastric leiomyoma. Apropos of a case with double localization]. 61
3372605 1988
12
Giant leiomyoma of esophagus. 61
3773534 1986
13
[Benign tumors of the esophagus: leiomyoma]. 61
3703334 1986
14
[X-ray diagnosis and differential diagnosis of leiomyoma of esophagus (author's transl)]. 61
6212215 1982
15
[Esophagus leiomyoma: case findings]. 61
5598377 1967
16
Leiomyoma of esophagus; report of case with successful enucleation. 61
13185581 1954
17
Giant intramural leiomyoma of esophagus; a case report. 61
13062354 1953
18
Leiomyoma of esophagus--report of case. 61
15425067 1950
19
[Leiomyoma of esophagus]. 61
20243060 1947

Variations for Esophagus Leiomyoma

Expression for Esophagus Leiomyoma

Search GEO for disease gene expression data for Esophagus Leiomyoma.

Pathways for Esophagus Leiomyoma

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

# Super pathways Score Top Affiliating Genes
1 12.28 VHL RET PDGFRA MAX EPAS1 EGLN3
2
Show member pathways
12.25 VHL PDGFRA NF1 EPAS1 EGLN3 EGLN2
3
Show member pathways
11.98 SDHD SDHC SDHB SDHA PGLS
4
Show member pathways
11.82 SDHD SDHC SDHB SDHA
5 11.71 VHL EGLN3 EGLN2 EGLN1
6
Show member pathways
11.64 SDHD SDHC SDHB SDHA
7 11.34 VHL EGLN2 EGLN1
8 10.69 VHL EPAS1
9 10.55 VHL EPAS1 EGLN3 EGLN2 EGLN1

GO Terms for Esophagus Leiomyoma

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.76 VHL SDHD SDHC SDHB SDHAF2 SDHA
2 mitochondrial inner membrane GO:0005743 9.65 SDHD SDHC SDHB SDHA MRPS22
3 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 SDHD SDHC SDHB SDHA EGLN3 EGLN2
2 MAPK cascade GO:0000165 9.76 RET PDGFRA NF1 GDNF
3 response to hypoxia GO:0001666 9.72 NF1 EPAS1 EGLN3 EGLN2 EGLN1
4 electron transport chain GO:0022900 9.67 SDHC SDHB SDHA
5 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.55 VHL EPAS1 EGLN3 EGLN2 EGLN1
6 adrenal gland development GO:0030325 9.54 PDGFRA NF1
7 respiratory electron transport chain GO:0022904 9.52 SDHB SDHA
8 sympathetic nervous system development GO:0048485 9.51 NF1 GDNF
9 enteric nervous system development GO:0048484 9.48 RET GDNF
10 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.43 RET NF1
11 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.43 EGLN3 EGLN2 EGLN1
12 succinate metabolic process GO:0006105 9.4 SDHB SDHA
13 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
14 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHD SDHC SDHAF2 SDHA

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 SDHB SDHA EGLN3 EGLN2 EGLN1
2 dioxygenase activity GO:0051213 9.63 EGLN3 EGLN2 EGLN1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.61 EGLN3 EGLN2 EGLN1
4 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
5 L-ascorbic acid binding GO:0031418 9.54 EGLN3 EGLN2 EGLN1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0016706 9.5 EGLN3 EGLN2 EGLN1
7 ubiquinone binding GO:0048039 9.4 SDHD SDHB
8 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.33 SDHD SDHB SDHA
9 peptidyl-proline 4-dioxygenase activity GO:0031545 9.13 EGLN3 EGLN2 EGLN1
10 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Esophagus Leiomyoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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