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 50 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 autosomal dominant secondary polycythemia and chronic mountain sickness. 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. 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 82)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant secondary polycythemia 10.2 EPAS1 EGLN1
2 chronic mountain sickness 10.2 EPAS1 EGLN3
3 acquired polycythemia 10.2 EPAS1 EGLN1
4 leiomyoma 10.2
5 retinal hemangioblastoma 10.1 VHL TMEM127 EPAS1
6 dermis tumor 10.1 SDHD SDHA
7 erythrocytosis, familial, 4 10.1 VHL EPAS1 EGLN1
8 acute mountain sickness 10.1 VHL EGLN1
9 spastic paraplegia 38, autosomal dominant 10.1 SDHB SDHA
10 horner's syndrome 10.0 SDHD NF1
11 combined oxidative phosphorylation deficiency 5 10.0 SDHC MRPS22
12 cranial nerve palsy 10.0 SDHD SDHB
13 brachial plexus lesion 10.0 NF1 GDNF
14 duodenal somatostatinoma 10.0 NF1 EPAS1 EGLN1
15 familial isolated hypoparathyroidism 10.0 VHL EGLN3 EGLN2 EGLN1
16 hemangioblastoma 10.0 VHL PDGFRA EPAS1
17 small intestine leiomyoma 10.0 PDGFRA NF1
18 clear cell renal cell carcinoma 9.9 VHL TMEM127 EPAS1 EGLN3
19 hereditary renal cell carcinoma 9.9 SDHB SDHA
20 nonsyndromic paraganglioma 9.9 SDHB RET
21 b-lymphoblastic leukemia/lymphoma with hypodiploidy 9.9 SDHA RET
22 mixed glioma 9.9 PDGFRA NF1
23 hernia, hiatus 9.9
24 esophageal cancer 9.9
25 hemangioma 9.9
26 glomus tumor 9.9 SDHD SDHB NF1
27 plethora of newborn 9.9 SDHD SDHB EPAS1 EGLN1
28 neurofibromatosis, type ii 9.9 SDHD SDHB NF1
29 medullary sponge kidney 9.9 RET GDNF
30 hypoganglionosis 9.9 RET GDNF
31 multiple mucosal neuroma 9.9 RET GDNF
32 primary polycythemia 9.8 VHL EPAS1 EGLN3 EGLN2 EGLN1
33 polycythemia 9.8 VHL EPAS1 EGLN3 EGLN2 EGLN1
34 erythrocytosis, familial, 2 9.8 VHL EPAS1 EGLN3 EGLN2 EGLN1
35 hypoxia 9.8 VHL EPAS1 EGLN3 EGLN2 EGLN1
36 gliofibroma 9.8 PDGFRA NF1
37 skin lipoma 9.8 RET NF1
38 foster-kennedy syndrome 9.7 SDHD SDHC SDHAF2 SDHA
39 subglottis neoplasm 9.7 SDHC SDHB NF1
40 thyroid carcinoma, familial medullary 9.7 VHL RET GDNF
41 peripheral nervous system disease 9.7 SDHD NF1 KIF1B GDNF
42 paragangliomas 1 9.7 SDHD SDHC SDHB SDHA
43 brain stem cancer 9.6 PDGFRA NF1
44 cowden syndrome 1 9.6 SDHD SDHB NF1
45 neuroma 9.6 RET NF1 GDNF
46 pilocytic astrocytoma 9.5 SDHA RET NF1
47 neural crest tumor 9.5 SDHD SDHC SDHB SDHAF2 SDHA
48 mitochondrial complex ii deficiency, nuclear type 1 9.5 SDHD SDHC SDHB SDHAF2 SDHA
49 carney complex variant 9.4 SDHD SDHB RET NF1
50 autosomal genetic disease 9.4 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 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.04 PDGFRA
2 Decreased viability GR00221-A-1 10.04 NF1 PDGFRA RET SDHD VHL
3 Decreased viability GR00221-A-2 10.04 NF1 RET SDHD VHL EGLN3 MAX
4 Decreased viability GR00221-A-3 10.04 PDGFRA MAX
5 Decreased viability GR00221-A-4 10.04 NF1 PDGFRA RET SDHD
6 Decreased viability GR00249-S 10.04 NF1 PDGFRA SDHD VHL EGLN3
7 Decreased viability GR00301-A 10.04 RET VHL EGLN3
8 Decreased viability GR00381-A-1 10.04 SDHD EGLN3
9 Decreased viability GR00386-A-1 10.04 NF1 MAX
10 Decreased viability GR00402-S-2 10.04 PDGFRA RET EGLN3
11 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Esophagus Leiomyoma:

46 (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 hematopoietic system MP:0005397 10.32 EGLN1 EGLN2 EGLN3 EPAS1 GDNF KIF1B
4 cellular MP:0005384 10.31 EGLN1 EGLN2 EGLN3 GDNF MAX NF1
5 homeostasis/metabolism MP:0005376 10.3 EGLN1 EGLN2 EGLN3 EPAS1 KIF1B NF1
6 cardiovascular system MP:0005385 10.29 EGLN1 EGLN2 EGLN3 EPAS1 GDNF MRPS22
7 mortality/aging MP:0010768 10.22 EGLN1 EGLN3 EPAS1 GDNF KIF1B MAX
8 immune system MP:0005387 10.17 EGLN1 EGLN2 EGLN3 EPAS1 GDNF NF1
9 craniofacial MP:0005382 10.13 EGLN1 EGLN2 EGLN3 KIF1B NF1 PDGFRA
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 9.91 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

Publications for Esophagus Leiomyoma

Articles related to Esophagus Leiomyoma:

(show all 20)
# Title Authors PMID Year
1
Leiomyoma of esophagus-A case report. 61
33059207 2020
2
Videoendoscopic surgery for the treatment of esophagus' leiomyoma. 61
24190384 2013
3
Leiomyoma of esophagus presenting as huge posterior mediastinal mass: 2 case reports. 61
23134934 2012
4
Leiomyoma of breast: a report of rare case. 61
19253869 2008
5
Leiomyoma of esophagus. 61
17505413 2007
6
[Application of video-assisted thoracoscopic surgery in thoracic tumors]. 61
21144311 2006
7
Surgical treatment of giant esophageal leiomyoma. 61
16015702 2005
8
[Surgery for benign submucosal tumors of the esophagus (leiomyoma and hemangioma)]. 61
14574712 2003
9
Gastrointestinal stromal tumors: recent advances in understanding of their biology. 61
10534170 1999
10
Pedunculated large leiomyoma of esophagus. 61
9465517 1998
11
[Solitary neurofibroma of the esophagus]. 61
1520551 1992
12
[Esophageal and gastric leiomyoma. Apropos of a case with double localization]. 61
3372605 1988
13
Giant leiomyoma of esophagus. 61
3773534 1986
14
[Benign tumors of the esophagus: leiomyoma]. 61
3703334 1986
15
[X-ray diagnosis and differential diagnosis of leiomyoma of esophagus (author's transl)]. 61
6212215 1982
16
[Esophagus leiomyoma: case findings]. 61
5598377 1967
17
Leiomyoma of esophagus; report of case with successful enucleation. 61
13185581 1954
18
Giant intramural leiomyoma of esophagus; a case report. 61
13062354 1953
19
Leiomyoma of esophagus--report of case. 61
15425067 1950
20
[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
12.06 SDHD SDHC SDHB SDHA
4
Show member pathways
11.79 SDHD SDHC SDHB SDHA
5 11.66 VHL EGLN3 EGLN2 EGLN1
6
Show member pathways
11.57 SDHD SDHC SDHB SDHA
7 11.31 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 9.63 SDHC SDHB SDHA
6 regulation of neuron apoptotic process GO:0043523 9.55 EGLN3 EGLN2
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.55 VHL EPAS1 EGLN3 EGLN2 EGLN1
8 adrenal gland development GO:0030325 9.54 PDGFRA NF1
9 respiratory electron transport chain GO:0022904 9.52 SDHB SDHA
10 sympathetic nervous system development GO:0048485 9.51 NF1 GDNF
11 enteric nervous system development GO:0048484 9.49 RET GDNF
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 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 SDHB SDHA EGLN3 EGLN2 EGLN1
2 iron ion binding GO:0005506 9.7 EGLN3 EGLN2 EGLN1
3 dioxygenase activity GO:0051213 9.67 EGLN3 EGLN2 EGLN1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.65 EGLN3 EGLN2 EGLN1
5 ferrous iron binding GO:0008198 9.58 EGLN3 EGLN2 EGLN1
6 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
7 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
8 L-ascorbic acid binding GO:0031418 9.5 EGLN3 EGLN2 EGLN1
9 ubiquinone binding GO:0048039 9.46 SDHD SDHB
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.43 SDHB SDHA
11 peptidyl-proline dioxygenase activity GO:0031543 9.33 EGLN3 EGLN2 EGLN1
12 peptidyl-proline 4-dioxygenase activity GO:0031545 9.13 EGLN3 EGLN2 EGLN1
13 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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