Hypertrophic Pyloric Stenosis malady

MalaCards: Hypertrophic Pyloric Stenosis, also known as congenital hypertrophic pyloric stenosis (disorder), is related to carotid stenosis and pulmonary vein stenosis. An important gene associated with Hypertrophic Pyloric Stenosis is HMOX2 (heme oxygenase (decycling) 2), and among its related pathways are Heme degradation and Porphyrin and chlorophyll metabolism. The compounds nicotine and trimebutine have been mentioned in the context of this disorder. Affiliated tissues include endothelial, and related mouse phenotypes are behavior/neurological and digestive/alimentary.

Aliases & Descriptions:

hypertrophic pyloric stenosis 6 congenital hypertrophic pyloric stenosis (disorder) 6 congenital hypertrophic pyloric stenosis 6 infantile stricture of pylorus 6

pyloric stenosis, hypertrophic 43 stenosis 43

Diseases related to hypertrophic pyloric stenosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 345)

id	Related Disease	Score	Top Affiliating Genes
1	carotid stenosis	31.8	S100B, IGF1, TGFB1
2	pulmonary vein stenosis	30.5	TYMP, DES
3	jaundice	28.9	BLVRB, UGT1A1, IGF1, HMOX2, TGFB1
4	pyloric stenosis	28.8	BLVRB, UGT1A1, S100B, MLN, IGF1, HMOX2
5	hypertension	28.4	S100B, IGF1, HMOX2, TRPC5, TRPC1, TRPC6
6	homocysteine	27.1	IGF1, NOS1, ELN, TGFB1, GAST
7	atherosclerosis	26.9	UGT1A1, IGF1, HMOX2, NOS1, ELN, TGFB1
8	vascular disease	26.4	IGF1, NOS1, ELN, TGFB1, DES
9	fibrous histiocytoma	26.4	S100B, DES
10	blindness	26.1	UGT1A1, MLN, IGF1, GAST, GDNF
11	neuronitis	26.0	BLVRB, S100B, MLN, IGF1, HMOX2, TRPC5
12	pheochromocytoma	25.5	S100B, MLN, NGFR, DES, GDNF
13	aldosteronism	24.9	UGT1A1, IGF1, ELN, TGFB1
14	portal hypertension	24.8	IGF1, ELN, TGFB1, GAST
15	malignant fibrous histiocytoma	24.8	S100B, IGF1, TYMP, DES
16	histiocytoma	24.7	S100B, IGF1, TYMP, DES
17	nephrotic syndrome	24.4	IGF1, TRPC6, NOS1, TGFB1
18	duodenitis	24.0	UGT1A1, MLN, IGF1, TGFB1, GAST
19	cerebritis	23.9	BLVRB, S100B, IGF1, HMOX2, TRPC5, TRPC1
20	esophagitis	23.7	S100B, MLN, IGF1, NGFR, ELN, TYMP
21	essential hypertension	23.6	IGF1, TRPC5, TRPC6, NOS1, TGFB1, GAST
22	anemia	23.1	UGT1A1, S100B, IGF1, NOS1, TGFB1, GAST
23	cervicitis	23.0	S100B, IGF1, HMOX2, NOS1, ELN, TYMP
24	hepatitis	22.3	UGT1A1, S100B, MLN, IGF1, NOS1, NGFR
25	pancreatic cancer	22.2	UGT1A1, IGF1, NOS1, NGFR, TYMP, TGFB1
26	pancreatitis	21.2	BLVRB, UGT1A1, S100B, MLN, IGF1, TRPC1
27	thyroiditis	20.5	UGT1A1, S100B, MLN, IGF1, NOS1, NGFR
28	gastric outlet obstruction	13.4	MLN, GAST
29	epithelioid malignant peripheral nerve sheath tumor	13.4	S100B, NGFR
30	malignant giant cell tumor of soft parts	13.4	S100B, DES
31	congenital epulis	13.3	S100B, DES
32	fibrous meningioma	13.3	S100B, DES
33	cutaneous leiomyosarcoma	13.3	S100B, DES
34	epulis	13.3	S100B, DES
35	spindle cell sarcoma	13.3	S100B, DES
36	adrenal cortical carcinoma	13.3	S100B, DES
37	ossifying fibromyxoid tumor	13.3	S100B, DES
38	acoustic neuroma	13.3	NGFR, GDNF
39	cutaneous fibrous histiocytoma	13.2	S100B, DES
40	impotence	13.2	BLVRB, NOS1, ELN
41	parachordoma	13.2	S100B, DES
42	spinal cord ischemia	13.2	S100B, GDNF
43	neurilemmoma	13.2	NGFR, DES
44	dupuytren contracture	13.2	NGFR, ELN, DES
45	duodenogastric reflux	13.2	MLN, GAST
46	lacrimal duct obstruction	13.1	NOS1, NGFR, ELN
47	glomus tumor	13.1	S100B, NGFR, DES
48	embryonal sarcoma	13.1	S100B, DES
49	mesenchymal chondrosarcoma	13.1	S100B, DES
50	mood disorder	13.1	NOS1, NGFR, GDNF

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hypertrophic pyloric stenosis:

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MGI Mouse Phenotypes related to hypertrophic pyloric stenosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	7.7	DES, NGFR, NOS1, TRPC6, TRPC5, HMOX2
2	digestive/alimentary phenotype	MP:0005381	7.2	GDNF, GAST, TGFB1, NGFR, NOS1, TRPC1
3	muscle phenotype	MP:0005369	6.7	IGF1, GDNF, DES, TGFB1, ELN, NGFR
4	nervous system phenotype	MP:0003631	6.4	NGFR, TYMP, TGFB1, GDNF, NOS1, TRPC6
5	cardiovascular system phenotype	MP:0005385	6.4	GDNF, DES, TGFB1, ELN, NGFR, NOS1

Articles related to hypertrophic pyloric stenosis:

(show all 20)

id	Title	Authors	Year	Affiliating Genes
1	Lack of association between nNOS -84G>A polymorphi sm and risk of infantile hypertrophic pyloric stenosis in a Chinese population. (20385275)	Miao X.... Tam P.K.	2010	NOS1
2	No association between a promoter NOS1 polymorphism ( rs41279104) and Infantile Hypertrophic Pyloric Stenosis. (19851341)	Lagerstedt-Robinson K.... NordenskjAPld A.	2009	NOS1
3	Infantile hypertrophic pyloric stenosis: evaluation o f three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association anal ysis and re-sequencing. (19701773)	Everett K.V.... Chung E.M.	2009	TRPC6, TRPC1, TRPC5
4	Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. (18358279)	Svenningsson A.... Nordenskjold A.	2008	MLN
5	Study of insulin-like growth factor-1 (IGF-1) and platelet-derived endothelial cell growth factor (PDEGF) expression in children with infantile hypertrophic pyloric stenosis. (16369467)	Jabl/onski J.... Andrzejewska E.	2006	IGF1, TYMP
6	Low plasma nitrite in infantile hypertrophic pyloric stenosis patients. (16758311)	Huang L.T.... Lin J.W.	2006	NOS1
7	The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis. (16257926)	Hua L.... Nowicki M.J.	2005	UGT1A1
8	Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. (14757827)	Saur D.... Allescher H.-D.	2004	NOS1
9	Distribution of heme oxygenase-2 in nerves and interstitial cells of Cajal in the normal pylorus and in infantile hypertrophic pyloric stenosis. (12946226)	Piotrowska A.P.... Puri P.	2003	HMOX2
10	Gastrin, somatostatin and infantile hypertrophic pyloric stenosis. (11529535)	Dick A.C.... Dodge J.A.	2001	GAST
11	Structural immaturity of the pylorus muscle in infantile hypertrophic pyloric stenosis. (10898230)	Guarino N.... Puri P.	2000	DES
12	Glial-derived growth factor signaling pathway in infantile hypertrophic pyloric stenosis. (10873021)	Guarino N.... Puri P.	2000	GDNF
13	Abnormalities of elastin and elastic fibers in infantile hypertrophic pyloric stenosis. (10631728)	Oue T.... Puri P.	1999	ELN
14	Pathogenesis of infantile hypertrophic pyloric stenosis: recent progress. (9553181)	Ohshiro K.... Puri P.	1998	TGFB1
15	Increased insulin-like growth factor-I mRNA expression in pyloric muscle in infantile hypertrophic pyloric stenosis. (9553182)	Ohshiro K.... Puri P.	1998	IGF1
16	Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. (9660065)	SAPderhAoll C.... NordenskjAPld A.	1998	NOS1
17	Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis. (9354728)	Kusafuka T.... Puri P.	1997	NOS1
18	The pathology of infantile hypertrophic pyloric stenosis after healing. (8943116)	Vanderwinden J.M.... Vanderhaeghen J.J.	1996	S100B, NGFR
19	Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study. (8786484)	Martinez-Urrutia M.J.... Tovar J.A.	1995	GAST
20	Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. (1378938)	Vanderwinden J.M.... De Laet M.H.	1992	NOS1, BLVRB

Genes related to hypertrophic pyloric stenosis according to GeneCards:

(show all 17)

id	Symbol	Description	Score	GeneCards Section Context
1	HMOX2	heme oxygenase (decycling) 2	11.0	Publications
2	MLN	motilin	11.0	Publications
3	BLVRB	biliverdin reductase B (flavin reductase (NADPH))	11.0	Publications
4	TRPC1	transient receptor potential cation channel, subfamily C, member 1	11.0	Publications
5	NOS1	nitric oxide synthase 1 (neuronal)	11.0	Publications
6	NGFR	nerve growth factor receptor	11.0	Publications
7	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	11.0	Publications
8	TRPC6	transient receptor potential cation channel, subfamily C, member 6	11.0	Publications
9	TRPC5	transient receptor potential cation channel, subfamily C, member 5	11.0	Publications
10	DES	desmin	11.0	Publications
11	TYMP	thymidine phosphorylase	11.0	Publications
12	S100B	S100 calcium binding protein B	11.0	Publications
13	ELN	elastin	11.0	Publications
14	GAST	gastrin	11.0	Publications
15	GDNF	glial cell derived neurotrophic factor	11.0	Publications
16	TGFB1	transforming growth factor, beta 1	11.0	Publications
17	IGF1	insulin-like growth factor 1 (somatomedin C)	11.0	Publications

Pathways related to hypertrophic pyloric stenosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Heme degradation38	10.1	BLVRB, HMOX2
2	Porphyrin and chlorophyll metabolism20	9.9	BLVRB, UGT1A1, HMOX2
3	PTEN Pathway36	9.8	NGFR, ELN
4	Calcium channels10	9.6	TRPC6, TRPC1, TRPC5
5	Hypertrophic cardiomyopathy (HCM)20	8.7	IGF1, TGFB1, DES
6	Dilated cardiomyopathy20	8.5	IGF1, TGFB1, DES
7	Intracellular Calcium Signaling36	8.3	TGFB1, TRPC6, TRPC1, TRPC5, IGF1

Compounds related to hypertrophic pyloric stenosis according to GeneDecks:

(show top 50)    (show all 91)

id	Compound	Score	Top Affiliating Genes
1	nicotine32 34 9 9	13.0	UGT1A1, GAST
2	trimebutine32	9.9	GAST, MLN
3	glutamate32	9.9	BLVRB, HMOX2, NOS1, NGFR
4	gv 15001332	9.9	GAST, NOS1
5	sodium nitroprusside32	9.8	BLVRB, S100B, ELN
6	ng-nitro-l-arginine32	9.7	BLVRB, NOS1, GAST
7	orcein32	9.6	DES, ELN, S100B
8	cgmp32	9.3	BLVRB, HMOX2, NOS1, ELN
9	estradiol32 9 18 9	12.2	BLVRB, UGT1A1, TYMP, DES
10	catecholamine32	9.2	GDNF, NGFR, S100B, BLVRB
11	hematoxylin32	9.2	DES, ELN, NGFR, S100B, BLVRB
12	oxygen32 18	9.8	GDNF, TYMP, NGFR, NOS1, HMOX2, BLVRB
13	ethanol32 34 9 18 9	12.8	BLVRB, S100B, NGFR, DES, GDNF
14	losartan32 34 9 9	11.7	TGFB1, ELN, IGF1, UGT1A1
15	nifedipine32 9 9	10.7	GAST, TGFB1, ELN, MLN
16	procollagen32	8.6	DES, TGFB1, ELN, IGF1
17	heparin32 9 18 9	11.6	MLN, ELN, DES, GAST, GDNF
18	alginate32	8.6	TGFB1, ELN, IGF1
19	gaba32 42	9.6	GDNF, GAST, NGFR, NOS1, S100B, BLVRB
20	norepinephrine32 9 18 9	11.5	S100B, NOS1, DES, GAST, GDNF
21	tamoxifen32 34 9 9	11.5	TGFB1, TYMP, NOS1, IGF1, UGT1A1
22	thyroxine32 18	9.4	GAST, TGFB1, IGF1, MLN, UGT1A1
23	wortmannin32 42	9.3	GDNF, TYMP, NGFR, IGF1, S100B
24	alanine32	8.3	GDNF, GAST, ELN, MLN, S100B, UGT1A1
25	choline32 9 18 9	11.3	GDNF, TGFB1, NGFR, NOS1, S100B, BLVRB
26	histamine32 18	9.3	GAST, TGFB1, ELN, NGFR, NOS1, MLN
27	adenylate32	8.2	GDNF, GAST, DES, NOS1, MLN, S100B
28	indomethacin32 9 9	10.2	TGFB1, TYMP, ELN, NGFR, NOS1, UGT1A1
29	steroid32	8.1	DES, NGFR, IGF1, S100B, UGT1A1, BLVRB
30	bromodeoxyuridine32	8.1	GDNF, GAST, DES, TGFB1, S100B
31	progesterone32 42 9 18 9	12.0	DES, TYMP, NGFR, HMOX2, IGF1, MLN
32	formaldehyde32 18	9.0	DES, TGFB1, TYMP, ELN, NOS1, S100B
33	paraffin32	8.0	DES, TGFB1, TYMP, ELN, NGFR, S100B
34	arginine32	8.0	DES, ELN, NOS1, HMOX2, IGF1, MLN
35	cysteine32	7.9	GDNF, DES, TYMP, ELN, NGFR, NOS1
36	testosterone32 9 18 9	10.8	GAST, DES, ELN, NOS1, IGF1, S100B
37	acetylcholine32 9 18 9	10.8	GDNF, GAST, DES, NGFR, NOS1, HMOX2
38	nitric oxide32 9 18 9	10.7	NGFR, TYMP, DES, GDNF, NOS1, TRPC1
39	dopamine32 9 18 9	10.7	GDNF, GAST, NGFR, NOS1, HMOX2, IGF1
40	actinomycin d32	7.5	GDNF, DES, TGFB1, TYMP, ELN, HMOX2
41	creatinine32	7.4	GDNF, DES, TGFB1, TYMP, ELN, IGF1
42	thymidine32 18	8.4	GAST, DES, TGFB1, TYMP, NGFR, IGF1
43	glucose32	7.2	GDNF, GAST, DES, TYMP, NGFR, HMOX2
44	retinoic acid32 42 18	8.9	GDNF, DES, TGFB1, ELN, NGFR, NOS1
45	tyrosine32	6.9	GDNF, GAST, DES, TYMP, NGFR, HMOX2
46	dexamethasone32 42 34 9 9	10.7	GDNF, GAST, TGFB1, ELN, NGFR, NOS1
47	calcium32 9 18 9	9.5	NGFR, ELN, DES, GAST, GDNF, NOS1
48	vegf32	6.3	GDNF, GAST, DES, TGFB1, TYMP, ELN
49	serine32	6.1	GDNF, GAST, DES, TGFB1, TYMP, ELN
50	estrogen32	5.8	UGT1A1, GDNF, GAST, DES, TGFB1, TYMP

Cellular components related to hypertrophic pyloric stenosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:005576	7.1	S100B, MLN, IGF1, NGFR, TGFB1, GAST

Biological processes related to hypertrophic pyloric stenosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	heme catabolic process	GO:042167	9.8	BLVRB, UGT1A1, HMOX2
2	porphyrin-containing compound metabolic process	GO:006778	9.7	BLVRB, UGT1A1, HMOX2
3	regulation of sodium ion transport	GO:002028	9.4	NOS1, TGFB1
4	axon guidance	GO:007411	8.4	GDNF, NGFR, TRPC6, TRPC1, TRPC5

Molecular functions related to hypertrophic pyloric stenosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	store-operated calcium channel activity	GO:015279	9.6	TRPC5, TRPC1, TRPC6
2	inositol 1,4,5 trisphosphate binding	GO:070679	9.5	TRPC5, TRPC1, TRPC6
3	hormone activity	GO:005179	9.2	MLN, IGF1, GAST
4	growth factor activity	GO:008083	7.8	GDNF, TGFB1, TYMP, IGF1