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MCID: HYP009

Hypertrophic Pyloric Stenosis malady
20 genes, 1 tissue, 569 related diseases, clinical trials.

Summaries for Hypertrophic Pyloric Stenosis

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MalaCards: Hypertrophic Pyloric Stenosis, also known as congenital hypertrophic pyloric stenosis, is related to pyloric stenosis and hypertension. An important gene associated with Hypertrophic Pyloric Stenosis is NOS1 (nitric oxide synthase 1 (neuronal)), and among its related pathways are Heme degradation and heme biosynthesis II. The compounds bromodeoxyuridine and gaba have been mentioned in the context of this disorder. Affiliated tissues include endothelial and endothelial, and related mouse phenotypes are respiratory system and behavior/neurological.

Aliases & Classifications for Hypertrophic Pyloric Stenosis

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8Disease Ontology, 56UMLS, 31MeSH, 25ICD9CM, 52SNOMED-CT, 23ICD10
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Aliases & Descriptions:

hypertrophic pyloric stenosis 8
congenital hypertrophic pyloric stenosis 8
infantile stricture of pylorus 8
pyloric stenosis, hypertrophic 56
stenosis 56

Classifications:


ICD10: 23


External Ids:

Disease Ontology8 DOID:12638
SNOMED-CT52 48644003
ICD9CM25 750.5
ICD1023 Q40.0

Related Diseases for Hypertrophic Pyloric Stenosis

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16GeneCards, 17GeneDecks
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Diseases related to hypertrophic pyloric stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 569)
idRelated DiseaseScoreTop Affiliating Genes
1pyloric stenosis37.2BLVRB, GAST, NOS1
2hypertension32.2IGF1, TGFB1
3esophagitis27.9GAST
4pancreatitis27.7TGFB1
5hepatitis27.4UGT1A1, TYMP
6duodenitis26.5GAST
7fibrous histiocytoma26.4DES
8essential hypertension26.3TRPC5
9pheochromocytoma25.9GDNF, NGFR, MLN
10carney complex25.8S100B, DES
11pancreatic cancer25.8GAST, TGFB1
12neurofibromatosis25.8NGFR, GDNF, S100B
13nephrotic syndrome25.7TRPC6
14lung cancer25.7IGF1, TGFB1
15dementia13.8NOS1
16constipation13.8MLN
17hirschsprung's disease13.8GDNF
18neuroma13.8GDNF
19impotence13.8NOS1
20meningitis13.7GDNF
21stomach cancer13.7GAST
22neuroepithelioma13.7GDNF
23neuropathy13.7DES
24malignant thyroid stimulating hormone producing neoplasm of pituitary gland13.7TYMP
25allergic rhinitis13.7NGFR
26meningioma13.7S100B
27glomus tumor13.7DES
28peripheral neuropathy13.7TYMP
29fibrous meningioma13.6S100B
30lymphangioleiomyomatosis13.6DES
31gastroparesis13.6MLN, GAST
32autonomic neuropathy13.6MLN, GAST
33angiomyolipoma13.6DES
34malignant peripheral nerve sheath tumor13.6DES
35hypothyroidism13.6IGF1
36glomerulonephritis13.5TGFB1
37primary hyperoxaluria13.5TGFB1
38hepatic fibrosis renal cysts mental retardation13.5TGFB1
39endometrial carcinoma13.5TYMP
40neurofibroma13.5NGFR, S100B
41granular cell tumor13.5S100B, DES
42sarcoma13.5DES, S100B
43cystic fibrosis13.5NGFR, ELN
44gastric outlet obstruction13.5MLN, GAST
45focal segmental glomerulosclerosis13.4TRPC6
46gastroesophageal reflux disease13.4GAST, MLN
47chondrosarcoma13.4S100B, DES
48malignant fibroxanthoma13.4S100B, DES
49achalasia13.4NOS1, GAST, BLVRB
50esophageal cancer13.4TYMP

Graphical network of the top 20 diseases related to hypertrophic pyloric stenosis:



Diseases related to hypertrophic pyloric stenosis

Symptoms for Hypertrophic Pyloric Stenosis

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Drugs & Therapeutics for Hypertrophic Pyloric Stenosis

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5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for hypertrophic pyloric stenosis

Drug clinical trials:

Search ClinicalTrials for hypertrophic pyloric stenosis

Search NIH Clinical Center for hypertrophic pyloric stenosis

Search CenterWatch for hypertrophic pyloric stenosis

Genetic Tests for Hypertrophic Pyloric Stenosis

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Anatomical Context for Hypertrophic Pyloric Stenosis

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29MalaCards
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MalaCards organs/tissues related to hypertrophic pyloric stenosis:

29
Endothelial

Animal Models for Hypertrophic Pyloric Stenosis or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to hypertrophic pyloric stenosis:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
respiratory system phenotype
MP:00053888.8TGFB1, HMOX2, NGFR, NKX2-5, NOS1, IGF1
2
behavior/neurological phenotype
MP:00053868.5S100B, TRPC6, TRPC5, GDNF, DES, HMOX2
3
digestive/alimentary phenotype
MP:00053818.5TGFB1, TRPC1, GDNF, HMOX2, NGFR, NOS1
4
muscle phenotype
MP:00053698.2ELN, TGFB1, TRPC6, GDNF, DES, HMOX2
5
cardiovascular system phenotype
MP:00053857.7TGFB1, TRPC6, TRPC1, GDNF, DES, HMOX2
6
nervous system phenotype
MP:00036317.7TGFB1, TYMP, TRPC6, TRPC5, TRPC1, GDNF

Publications for Hypertrophic Pyloric Stenosis

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47PubMed
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Articles related to hypertrophic pyloric stenosis:

(show all 22)
idTitleAuthorsYearAffiliating Genes
1Common variants near MBNL1 and NKX2-5 are associated w ith infantile hypertrophic pyloric stenosis. (22306654)Feenstra B.... Melbye M.2012MBNL1, NKX2-5, SIK3
2Genomic variants in the coding region of neuronal nitr ic oxide synthase (NOS1) in infantile hypertrophic pyloric stenosis. (22008325)Serra A.... Fitze G.2011NOS1
3Lack 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.2010NOS1
4No association between a promoter NOS1 polymorphism ( rs41279104) and Infantile Hypertrophic Pyloric Stenosis. (19851341)Lagerstedt-Robinson K.... NordenskjAPld A.2009NOS1
5Infantile 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.2009TRPC6, TRPC5, TRPC1
6Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. (18358279)Svenningsson A.... Nordenskjold A.2008MLN
7Study 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.2006IGF1, TYMP
8Low plasma nitrite in infantile hypertrophic pyloric stenosis patients. (16758311)Huang L.T.... Lin J.W.2006NOS1
9The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis. (16257926)Hua L.... Nowicki M.J.2005UGT1A1
10Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. (14757827)Saur D.... Allescher H.-D.2004NOS1
11Distribution 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.2003HMOX2
12Gastrin, somatostatin and infantile hypertrophic pyloric stenosis. (11529535)Dick A.C.... Dodge J.A.2001GAST
13Structural immaturity of the pylorus muscle in infantile hypertrophic pyloric stenosis. (10898230)Guarino N.... Puri P.2000DES
14Glial-derived growth factor signaling pathway in infantile hypertrophic pyloric stenosis. (10873021)Guarino N.... Puri P.2000GDNF
15Abnormalities of elastin and elastic fibers in infantile hypertrophic pyloric stenosis. (10631728)Oue T.... Puri P.1999ELN
16Pathogenesis of infantile hypertrophic pyloric stenosis: recent progress. (9553181)Ohshiro K.... Puri P.1998TGFB1
17Increased insulin-like growth factor-I mRNA expression in pyloric muscle in infantile hypertrophic pyloric stenosis. (9553182)Ohshiro K.... Puri P.1998IGF1
18Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. (9660065)SAPderhAoll C.... NordenskjAPld A.1998NOS1
19Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis. (9354728)Kusafuka T.... Puri P.1997NOS1
20The pathology of infantile hypertrophic pyloric stenosis after healing. (8943116)Vanderwinden J.M.... Vanderhaeghen J.J.1996S100B, NGFR
21Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study. (8786484)Martinez-Urrutia M.J.... Tovar J.A.1995GAST
22Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. (1378938)Vanderwinden J.M.... De Laet M.H.1992NOS1, BLVRB

Variations for Hypertrophic Pyloric Stenosis

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Expression for genes affiliated with Hypertrophic Pyloric Stenosis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hypertrophic Pyloric Stenosis

Pathways for genes affiliated with Hypertrophic Pyloric Stenosis

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50Reactome, 34NCBI BioSystems Database, 12EMD Millipore, 48QIAGEN
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Pathways related to hypertrophic pyloric stenosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Heme degradation50
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9.7BLVRB, HMOX2, UGT1A1
2
heme biosynthesis II34
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9.7UGT1A1, HMOX2, BLVRB
3
Netrin-1 signaling50
9.5TRPC1, TRPC5, TRPC6
4
Role of second messengers in netrin-1 signaling50
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9.5TRPC1, TRPC5, TRPC6
5
Calcium channels12
9.5TRPC1, TRPC5, TRPC6
6
CREB Pathway48
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8.7TGFB1, TRPC6, TRPC5, TRPC1, NGFR, IGF1

Compounds for genes affiliated with Hypertrophic Pyloric Stenosis

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41Novoseek, 55Tocris Bioscience, 46PharmGKB, 11DrugBank, 22HMDB
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Compounds related to hypertrophic pyloric stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1bromodeoxyuridine4110.7GDNF
2gaba41 5511.5BLVRB
3orcein4110.2DES, S100B, ELN
4gv 1500134110.1NOS1, GAST
52-aminoethoxydiphenylborane4110.1TRPC6, TRPC5
6trimebutine419.9GAST, MLN
7carbon419.9ELN, HMOX2, NOS1
8ng-nitro-l-arginine419.8BLVRB, GAST, NOS1
9catecholamine419.8S100B, GDNF, NGFR, BLVRB
10losartan41 46 1111.8TGFB1, ELN, UGT1A1, IGF1
11procollagen419.7TGFB1, IGF1, DES, ELN
12alginate419.7ELN, IGF1, TGFB1
13cgmp419.7ELN, NOS1, HMOX2, BLVRB
14hematoxylin419.7S100B, DES, BLVRB, ELN, NGFR
153-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide419.6TGFB1, S100B, DES
16indomethacin41 1110.6TGFB1, ELN, BLVRB, NGFR, TYMP
17sodium nitroprusside419.6S100B, TGFB1, NOS1, BLVRB, ELN
18tamoxifen46 41 1111.6UGT1A1, TYMP, NOS1, TGFB1, IGF1
19ethanol41 46 11 2212.5BLVRB, NGFR, S100B, GDNF, DES
20nicotine41 46 1111.5TGFB1, UGT1A1, NGFR, NOS1, GAST
21choline41 11 2211.5NOS1, TGFB1, S100B, GDNF, BLVRB, NGFR
22norepinephrine41 11 2211.4S100B, DES, GDNF, GAST, NOS1
23wortmannin41 5510.4GDNF, TYMP, S100B, IGF1, NGFR
24nifedipine41 46 1111.4ELN, GAST, MLN, TGFB1
25cysteine419.3NGFR, NOS1, ELN, TYMP
26thyroxine41 2210.2GAST, TGFB1, UGT1A1, MLN, IGF1
27actinomycin d419.2GDNF, ELN, HMOX2, IGF1, DES, TGFB1
28formaldehyde41 2210.2ELN, TGFB1, S100B, TYMP, DES, NOS1
29paraffin419.1NGFR, DES, BLVRB, S100B, TGFB1, ELN
30histamine41 2210.1TGFB1, NGFR, NOS1, MLN, GAST, ELN
31dopamine41 11 2211.1GDNF, NGFR, HMOX2, MLN, NOS1, GAST
32oxygen41 2210.1GDNF, BLVRB, HMOX2, S100B, TYMP, NOS1
33adenylate418.9S100B, BLVRB, NOS1, MLN, DES, GDNF
34glutamate418.9S100B, GDNF, HMOX2, NGFR, GAST, BLVRB
35thymidine41 229.9GAST, DES, UGT1A1, IGF1, TYMP, S100B
36retinoic acid41 55 2210.8ELN, UGT1A1, IGF1, NOS1, GDNF, S100B
37testosterone41 11 2210.8NOS1, UGT1A1, ELN, BLVRB, GAST, IGF1
38alanine418.7S100B, TGFB1, UGT1A1, GDNF, MLN, GAST
39dexamethasone41 46 55 1111.7ELN, GDNF, GAST, IGF1, TGFB1, S100B
40progesterone41 55 11 2211.7S100B, BLVRB, MLN, IGF1, NGFR, DES
41arginine418.7ELN, S100B, UGT1A1, DES, BLVRB, IGF1
42creatinine418.7S100B, TYMP, GDNF, DES, GAST, IGF1
43acetylcholine41 11 2210.6S100B, HMOX2, NGFR, MLN, NOS1, GDNF
44vegf418.5NGFR, GDNF, TYMP, S100B, TGFB1, DES
45glucose418.3GAST, S100B, TYMP, GDNF, IGF1, BLVRB
46estrogen418.1GAST, S100B, TGFB1, ELN, IGF1, NOS1
47nitric oxide41 11 2210.0NGFR, HMOX2, DES, GDNF, TRPC1, TYMP
48tyrosine418.0S100B, TYMP, UGT1A1, GDNF, DES, HMOX2
49serine417.8NOS1, TGFB1, S100B, TYMP, IGF1, GAST
50calcium41 46 11 2210.4DES, TRPC5, TRPC1, ELN, MLN, BLVRB

GO Terms for genes affiliated with Hypertrophic Pyloric Stenosis

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15Gene Ontology
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Biological processes related to hypertrophic pyloric stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cardiac muscle contractionGO:05511710.0NOS1, NKX2-5
2heme catabolic processGO:0421679.8BLVRB, HMOX2, UGT1A1
3porphyrin-containing compound metabolic processGO:0067789.7BLVRB, HMOX2, UGT1A1
4axon guidanceGO:0074118.8TRPC6, TRPC5, TRPC1, GDNF, NGFR

Molecular functions related to hypertrophic pyloric stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inositol 1,4,5 trisphosphate bindingGO:0706799.5TRPC1, TRPC5, TRPC6
2store-operated calcium channel activityGO:0152799.4TRPC1, TRPC5, TRPC6
3growth factor activityGO:0080839.2TGFB1, TYMP, GDNF, IGF1
4protein bindingGO:0055156.9S100B, TRPC6, TRPC5, TRPC1, DES, HMOX2

Products for genes affiliated with Hypertrophic Pyloric Stenosis

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  • Antibodies
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Sources for Hypertrophic Pyloric Stenosis

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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