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 ⁵⁰ 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 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

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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 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:

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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

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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

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Publications for Esophagus Leiomyoma

Articles related to Esophagus Leiomyoma:

(show all 20)

#	Title	Authors	PMID	Year
1	Leiomyoma of esophagus-A case report. ⁶¹	Thakut G...Gaikwad VV	33059207	2020
2	Videoendoscopic surgery for the treatment of esophagus' leiomyoma. ⁶¹	Pinheiro FA...Araripe DP	24190384	2013
3	Leiomyoma of esophagus presenting as huge posterior mediastinal mass: 2 case reports. ⁶¹	Ahsan MM...Hossain MM	23134934	2012
4	Leiomyoma of breast: a report of rare case. ⁶¹	Koirala K...Shrestha R	19253869	2008
5	Leiomyoma of esophagus. ⁶¹	Punpale A...Mistry RC	17505413	2007
6	[Application of video-assisted thoracoscopic surgery in thoracic tumors]. ⁶¹	Chai L...Sun K	21144311	2006
7	Surgical treatment of giant esophageal leiomyoma. ⁶¹	Cheng BC...Wang TS	16015702	2005
8	[Surgery for benign submucosal tumors of the esophagus (leiomyoma and hemangioma)]. ⁶¹	Kajiyama Y...Tsurumaru M	14574712	2003
9	Gastrointestinal stromal tumors: recent advances in understanding of their biology. ⁶¹	Miettinen M...Lasota J	10534170	1999
10	Pedunculated large leiomyoma of esophagus. ⁶¹	Gupta NM...Goenka MK	9465517	1998
11	[Solitary neurofibroma of the esophagus]. ⁶¹	Ramirez Rodriguez JM...Gallel Vicente P	1520551	1992
12	[Esophageal and gastric leiomyoma. Apropos of a case with double localization]. ⁶¹	Lucas S...Stoppa R	3372605	1988
13	Giant leiomyoma of esophagus. ⁶¹	Kramer MD...Ellis FH	3773534	1986
14	[Benign tumors of the esophagus: leiomyoma]. ⁶¹	Colombo PL...Abelli M	3703334	1986
15	[X-ray diagnosis and differential diagnosis of leiomyoma of esophagus (author's transl)]. ⁶¹	Gu J	6212215	1982
16	[Esophagus leiomyoma: case findings]. ⁶¹	Atra E...de Pupo Junior RA	5598377	1967
17	Leiomyoma of esophagus; report of case with successful enucleation. ⁶¹	OXLEY CM	13185581	1954
18	Giant intramural leiomyoma of esophagus; a case report. ⁶¹	KENNEY LJ	13062354	1953
19	Leiomyoma of esophagus--report of case. ⁶¹	BIGGER IA...VINSON PP	15425067	1950
20	[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 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MRPS22	Mitochondrial Ribosomal Protein S22	Protein Coding	5.93	DISEASES inferred ¹⁵
2	TMEM127	Transmembrane Protein 127	Protein Coding	5.01	DISEASES inferred ¹⁵
3	MAX	MYC Associated Factor X	Protein Coding	5	DISEASES inferred ¹⁵
4	KIF1B	Kinesin Family Member 1B	Protein Coding	4.96	DISEASES inferred ¹⁵
5	EGLN3	Egl-9 Family Hypoxia Inducible Factor 3	Protein Coding	4.63	DISEASES inferred ¹⁵
6	EGLN2	Egl-9 Family Hypoxia Inducible Factor 2	Protein Coding	4.61	DISEASES inferred ¹⁵
7	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	4.56	DISEASES inferred ¹⁵
8	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	4.48	DISEASES inferred ¹⁵
9	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	4.36	DISEASES inferred ¹⁵
10	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	4.36	DISEASES inferred ¹⁵
11	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	4.27	DISEASES inferred ¹⁵
12	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	4.26	DISEASES inferred ¹⁵
13	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	3.9	DISEASES inferred ¹⁵
14	GDNF	Glial Cell Derived Neurotrophic Factor	Protein Coding	3.76	DISEASES inferred ¹⁵
15	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	3.69	DISEASES inferred ¹⁵
16	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	3.66	DISEASES inferred ¹⁵
17	RET	Ret Proto-Oncogene	Protein Coding	3.44	DISEASES inferred ¹⁵
18	NF1	Neurofibromin 1	Protein Coding	3.35	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	12.06	SDHD SDHC SDHB SDHA
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	11.79	SDHD SDHC SDHB SDHA
5	HIF-1 signaling pathway ³⁶	11.66	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	11.57	SDHD SDHC SDHB SDHA
7	HIF1Alpha Pathway ⁶³	11.31	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	9.63	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

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