MCID: ESP014
MIFTS: 29

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
SNOMED-CT 67 276805005
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, 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 78)
# Related Disease Score Top Affiliating Genes
1 leiomyoma of vulva and esophagus 11.5
2 leiomyoma 10.8
3 autosomal dominant secondary polycythemia 10.3 EPAS1 EGLN1
4 acquired polycythemia 10.2 EPAS1 EGLN1
5 dysphagia 10.2
6 retinal hemangioblastoma 10.2 VHL TMEM127 EPAS1
7 plethora of newborn 10.2 PGLS EPAS1 EGLN1
8 acute mountain sickness 10.1 VHL EGLN1
9 erythrocytosis, familial, 4 10.1 VHL EPAS1 EGLN1
10 adult malignant schwannoma 10.1 NF1 MAX
11 foster-kennedy syndrome 10.0 SDHD SDHAF2 SDHA
12 spastic paraplegia 38, autosomal dominant 9.9 SDHB SDHA
13 esophageal cancer 9.9
14 hernia, hiatus 9.9
15 leiomyosarcoma 9.9
16 hemangioma 9.9
17 achalasia 9.9
18 rare tumor 9.9
19 familial isolated hypoparathyroidism 9.9 VHL EGLN3 EGLN2 EGLN1
20 small intestine leiomyoma 9.9 PDGFRA NF1
21 combined oxidative phosphorylation deficiency 5 9.9 SDHC MRPS22
22 cranial nerve palsy 9.8 SDHD PGLS
23 hereditary renal cell carcinoma 9.8 SDHB SDHA
24 mixed glioma 9.8 PDGFRA NF1
25 duodenal somatostatinoma 9.8 PGLS NF1 EPAS1 EGLN1
26 b-lymphoblastic leukemia/lymphoma with hypodiploidy 9.8 SDHA RET
27 medullary sponge kidney 9.8 RET GDNF
28 erythrocytosis, familial, 2, autosomal recessive 9.8 VHL EPAS1 EGLN3 EGLN2 EGLN1
29 primary polycythemia 9.8 VHL EPAS1 EGLN3 EGLN2 EGLN1
30 polycythemia 9.7 VHL EPAS1 EGLN3 EGLN2 EGLN1
31 hypoganglionosis 9.7 RET GDNF
32 hypoxia 9.7 VHL EPAS1 EGLN3 EGLN2 EGLN1
33 parathyroid gland disease 9.7 RET EGLN2 EGLN1
34 clear cell renal cell carcinoma 9.7 VHL TMEM127 SDHB EPAS1 EGLN3
35 multiple mucosal neuroma 9.6 SDHAF2 RET 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 renal cell carcinoma, papillary, 1 9.3 VHL SDHD SDHB RET
40 cowden syndrome 1 9.3 SDHB RET NF1
41 neural crest tumor 9.3 SDHD SDHC SDHB SDHAF2 SDHA
42 mitochondrial complex ii deficiency 9.3 SDHD SDHC SDHB SDHAF2 SDHA
43 sporadic pheochromocytoma/secreting paraganglioma 9.2 VHL SDHD SDHB RET EPAS1
44 autosomal genetic disease 9.1 SDHD SDHB RET NF1
45 paragangliomas 1 9.1 SDHD SDHC SDHB RET
46 thyroid gland cancer 9.1 SDHD SDHB RET GDNF
47 mitochondrial metabolism disease 9.1 SDHD SDHC SDHB SDHAF2 SDHA MRPS22
48 carney triad 9.1 SDHD SDHC SDHB SDHA PDGFRA
49 leigh syndrome 9.1 SDHD SDHC SDHB SDHAF2 SDHA MRPS22
50 neuroendocrine tumor 9.0 VHL SDHD SDHB RET NF1

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 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.28 PDGFRA
2 Decreased viability GR00221-A-1 10.28 NF1 PDGFRA RET SDHD VHL
3 Decreased viability GR00221-A-2 10.28 EGLN3 MAX NF1 RET SDHD VHL
4 Decreased viability GR00221-A-3 10.28 MAX PDGFRA
5 Decreased viability GR00221-A-4 10.28 NF1 PDGFRA RET SDHD
6 Decreased viability GR00240-S-1 10.28 SDHB
7 Decreased viability GR00249-S 10.28 EGLN3 NF1 PDGFRA SDHD VHL
8 Decreased viability GR00301-A 10.28 EGLN3 RET VHL
9 Decreased viability GR00381-A-1 10.28 EGLN2 EGLN3 SDHD
10 Decreased viability GR00386-A-1 10.28 MAX NF1 TMEM127
11 Decreased viability GR00402-S-2 10.28 EGLN1 EGLN3 PDGFRA PGLS RET TMEM127
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.73 PGLS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.73 RET
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.73 PGLS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.73 RET
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.73 RET
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.73 SDHC
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.73 SDHC
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.73 EGLN2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.73 EGLN2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.73 RET
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.73 SDHC
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.73 EGLN2
24 Decreased sensitivity to paclitaxel GR00112-A-0 8.85 NF1

MGI Mouse Phenotypes related to Esophagus Leiomyoma:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
2 embryo MP:0005380 10.32 EGLN1 EGLN2 EGLN3 EPAS1 KIF1B MAX
3 cellular MP:0005384 10.31 EGLN1 EGLN2 EGLN3 GDNF MAX NF1
4 homeostasis/metabolism MP:0005376 10.3 EGLN1 EGLN2 EGLN3 EPAS1 KIF1B NF1
5 cardiovascular system MP:0005385 10.29 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
6 hematopoietic system MP:0005397 10.29 EGLN1 EGLN2 EGLN3 EPAS1 GDNF NF1
7 mortality/aging MP:0010768 10.22 EGLN1 EGLN3 EPAS1 GDNF KIF1B MAX
8 craniofacial MP:0005382 10.13 EGLN1 EGLN2 EGLN3 KIF1B NF1 PDGFRA
9 immune system MP:0005387 10.13 EGLN1 EGLN2 EGLN3 EPAS1 GDNF NF1
10 integument MP:0010771 10.01 EGLN1 EGLN2 EGLN3 KIF1B NF1 PDGFRA
11 muscle MP:0005369 10 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
12 limbs/digits/tail MP:0005371 9.97 EGLN2 EGLN3 KIF1B NF1 PDGFRA RET
13 neoplasm MP:0002006 9.7 NF1 PDGFRA RET SDHB SDHC SDHD
14 renal/urinary system MP:0005367 9.5 EGLN1 GDNF NF1 PDGFRA RET SDHB
15 skeleton MP:0005390 9.36 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

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 15)
# 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 9.78 RET PDGFRA NF1 GDNF
3 response to hypoxia GO:0001666 9.72 NF1 EPAS1 EGLN3 EGLN2 EGLN1
4 cellular response to hypoxia GO:0071456 9.71 EPAS1 EGLN3 EGLN2 EGLN1
5 electron transport chain GO:0022900 9.67 SDHC SDHB SDHA
6 adrenal gland development GO:0030325 9.55 PDGFRA NF1
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.55 VHL EPAS1 EGLN3 EGLN2 EGLN1
8 respiratory electron transport chain GO:0022904 9.54 SDHB SDHA
9 sympathetic nervous system development GO:0048485 9.52 NF1 GDNF
10 enteric nervous system development GO:0048484 9.51 RET GDNF
11 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.46 RET NF1
12 succinate metabolic process GO:0006105 9.43 SDHB SDHA
13 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.43 EGLN3 EGLN2 EGLN1
14 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
15 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 SDHB SDHA EGLN3 EGLN2 EGLN1
2 dioxygenase activity GO:0051213 9.67 EGLN3 EGLN2 EGLN1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.65 EGLN3 EGLN2 EGLN1
4 ferrous iron binding GO:0008198 9.58 EGLN3 EGLN2 EGLN1
5 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
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 9.54 EGLN3 EGLN2 EGLN1
7 L-ascorbic acid binding GO:0031418 9.5 EGLN3 EGLN2 EGLN1
8 ubiquinone binding GO:0048039 9.46 SDHD SDHB
9 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.43 SDHB SDHA
10 peptidyl-proline dioxygenase activity GO:0031543 9.33 EGLN3 EGLN2 EGLN1
11 peptidyl-proline 4-dioxygenase activity GO:0031545 9.13 EGLN3 EGLN2 EGLN1
12 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
Content
Loading form....