Esophagus Leiomyoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Esophagus Leiomyoma

MalaCards integrated aliases for Esophagus Leiomyoma:

Name: Esophagus Leiomyoma ¹² ¹⁵

Leiomyoma of Esophagus ⁷¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:960

NCIt ⁴⁹ C3866

SNOMED-CT ⁶⁷ 276805005

UMLS ⁷¹ C0238114

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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

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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:

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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

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Drugs & Therapeutics for Esophagus Leiomyoma

Search Clinical Trials , NIH Clinical Center for Esophagus Leiomyoma

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Genetic Tests for Esophagus Leiomyoma

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Anatomical Context for Esophagus Leiomyoma

MalaCards organs/tissues related to Esophagus Leiomyoma:

⁴⁰

Breast

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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	Pinheiro FA...Araripe DP	24190384	2013
2	Leiomyoma of esophagus presenting as huge posterior mediastinal mass: 2 case reports. ⁶¹	Ahsan MM...Hossain MM	23134934	2012
3	Leiomyoma of breast: a report of rare case. ⁶¹	Koirala K...Shrestha R	19253869	2008
4	Leiomyoma of esophagus. ⁶¹	Punpale A...Mistry RC	17505413	2007
5	[Application of video-assisted thoracoscopic surgery in thoracic tumors]. ⁶¹	Chai L...Sun K	21144311	2006
6	Surgical treatment of giant esophageal leiomyoma. ⁶¹	Cheng BC...Wang TS	16015702	2005
7	[Surgery for benign submucosal tumors of the esophagus (leiomyoma and hemangioma)]. ⁶¹	Kajiyama Y...Tsurumaru M	14574712	2003
8	Gastrointestinal stromal tumors: recent advances in understanding of their biology. ⁶¹	Miettinen M...Lasota J	10534170	1999
9	Pedunculated large leiomyoma of esophagus. ⁶¹	Gupta NM...Goenka MK	9465517	1998
10	[Solitary neurofibroma of the esophagus]. ⁶¹	Ramirez Rodriguez JM...Gallel Vicente P	1520551	1992
11	[Esophageal and gastric leiomyoma. Apropos of a case with double localization]. ⁶¹	Lucas S...Stoppa R	3372605	1988
12	Giant leiomyoma of esophagus. ⁶¹	Kramer MD...Ellis FH	3773534	1986
13	[Benign tumors of the esophagus: leiomyoma]. ⁶¹	Colombo PL...Abelli M	3703334	1986
14	[X-ray diagnosis and differential diagnosis of leiomyoma of esophagus (author's transl)]. ⁶¹	Gu J	6212215	1982
15	[Esophagus leiomyoma: case findings]. ⁶¹	Atra E...de Pupo Junior RA	5598377	1967
16	Leiomyoma of esophagus; report of case with successful enucleation. ⁶¹	OXLEY CM	13185581	1954
17	Giant intramural leiomyoma of esophagus; a case report. ⁶¹	KENNEY LJ	13062354	1953
18	Leiomyoma of esophagus--report of case. ⁶¹	BIGGER IA...VINSON PP	15425067	1950
19	[Leiomyoma of esophagus]. ⁶¹	JONES CM...SWEET RH	20243060	1947

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Genes for Esophagus Leiomyoma

Genes related to Esophagus Leiomyoma (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MRPS22	Mitochondrial Ribosomal Protein S22	Protein Coding	5.9	DISEASES inferred ¹⁵
2	TMEM127	Transmembrane Protein 127	Protein Coding	5.1	DISEASES inferred ¹⁵
3	MAX	MYC Associated Factor X	Protein Coding	4.96	DISEASES inferred ¹⁵
4	KIF1B	Kinesin Family Member 1B	Protein Coding	4.92	DISEASES inferred ¹⁵
5	PGLS	6-Phosphogluconolactonase	Protein Coding	4.84	DISEASES inferred ¹⁵
6	EGLN3	Egl-9 Family Hypoxia Inducible Factor 3	Protein Coding	4.71	DISEASES inferred ¹⁵
7	EGLN2	Egl-9 Family Hypoxia Inducible Factor 2	Protein Coding	4.68	DISEASES inferred ¹⁵
8	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	4.62	DISEASES inferred ¹⁵
9	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	4.57	DISEASES inferred ¹⁵
10	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	4.45	DISEASES inferred ¹⁵
11	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	4.43	DISEASES inferred ¹⁵
12	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	4.34	DISEASES inferred ¹⁵
13	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	4.33	DISEASES inferred ¹⁵
14	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	3.98	DISEASES inferred ¹⁵
15	GDNF	Glial Cell Derived Neurotrophic Factor	Protein Coding	3.83	DISEASES inferred ¹⁵
16	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	3.76	DISEASES inferred ¹⁵
17	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	3.73	DISEASES inferred ¹⁵
18	RET	Ret Proto-Oncogene	Protein Coding	3.51	DISEASES inferred ¹⁵
19	NF1	Neurofibromin 1	Protein Coding	3.47	DISEASES inferred ¹⁵

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Variations for Esophagus Leiomyoma

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Expression for Esophagus Leiomyoma

Search GEO for disease gene expression data for Esophagus Leiomyoma.

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Pathways for Esophagus Leiomyoma

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

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁶	12.28	VHL RET PDGFRA MAX EPAS1 EGLN3
2	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.25	VHL PDGFRA NF1 EPAS1 EGLN3 EGLN2
3	Carbon metabolism ³⁶ Show member pathways 2-Oxocarboxylic acid metabolism ³⁶ Biosynthesis of amino acids ³⁶ formaldehyde oxidation ¹	11.98	SDHD SDHC SDHB SDHA PGLS
4	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁵ Show member pathways Citric acid cycle (TCA cycle) ⁶⁵ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁵ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁵ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁵ TCA Cycle ¹	11.82	SDHD SDHC SDHB SDHA
5	HIF-1 signaling pathway ³⁶	11.71	VHL EGLN3 EGLN2 EGLN1
6	Citrate cycle (TCA cycle) ³⁶ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	11.64	SDHD SDHC SDHB SDHA
7	HIF1Alpha Pathway ⁶³	11.34	VHL EGLN2 EGLN1
8	Amplification and Expansion of Oncogenic Pathways as Metastatic Traits ¹	10.69	VHL EPAS1
9	HIF-2-alpha transcription factor network ¹	10.55	VHL EPAS1 EGLN3 EGLN2 EGLN1

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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

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