Aliases & Classifications for Pyloric Atresia

MalaCards integrated aliases for Pyloric Atresia:

Name: Pyloric Atresia 57 55

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pyloric atresia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 265950
MedGen 42 C0266159
SNOMED-CT via HPO 69 258211005 86203003

Summaries for Pyloric Atresia

MalaCards based summary : Pyloric Atresia is related to epidermolysis bullosa simplex with pyloric atresia and epidermolysis bullosa with pyloric atresia. An important gene associated with Pyloric Atresia is PLEC (Plectin), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. Affiliated tissues include skin, testes and pancreas, and related phenotypes are polyhydramnios and congenital pyloric atresia

Description from OMIM: 265950

Related Diseases for Pyloric Atresia

Diseases related to Pyloric Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex with pyloric atresia 34.3 ITGB4 PLEC
2 epidermolysis bullosa with pyloric atresia 33.8 ITGA6 ITGB4 PLEC
3 epidermolysis bullosa junctionalis with pyloric atresia 31.7 COL17A1 GALK1 ITGA6 ITGB4 LOC101929947 PLEC
4 aplasia cutis congenita 30.2 ITGA6 ITGB4
5 epidermolysis bullosa simplex 29.8 COL17A1 ITGB4 PLEC
6 junctional epidermolysis bullosa 29.6 COL17A1 ITGA6 ITGB4 LAMC2
7 epidermolysis bullosa 29.3 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
8 skin disease 28.4 COL17A1 ITGB4 LAMC2 PLEC
9 aplasia cutis congenita, nonsyndromic 10.2
10 lichen planus pemphigoides 10.1 COL17A1 ITGB4
11 epidermolysis bullosa simplex with muscular dystrophy 10.1 COL17A1 PLEC
12 autoimmune disease of skin and connective tissue 10.0 COL17A1 PLEC
13 intestinal atresia 9.9
14 duodenitis 9.9
15 epidermolysis bullosa acquisita 9.9 COL17A1 ITGB4
16 epidermolysis bullosa simplex, dowling-meara type 9.8
17 pancreas, annular 9.8
18 duodenal atresia 9.8
19 jejunal atresia 9.8
20 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 9.8
21 aging 9.8
22 congenital short bowel syndrome 9.8
23 autosomal recessive disease 9.8
24 short bowel syndrome 9.8
25 protein-losing enteropathy 9.8
26 dieulafoy lesion 9.8
27 pyloric stenosis 9.8
28 urethritis 9.8
29 kidney disease 9.8
30 peritonitis 9.8
31 autosomal dominant polycystic kidney disease 9.8
32 muscular dystrophy 9.8
33 polycystic kidney disease 9.8
34 mosaic trisomy 8 9.8
35 high anorectal malformation 9.8
36 ocular cicatricial pemphigoid 9.7 ITGA6 ITGB4
37 linear iga disease 9.2 COL17A1 ITGB4 LAD1
38 cicatricial pemphigoid 9.2 COL17A1 ITGA6 ITGB4 LAMC2
39 vesiculobullous skin disease 8.8 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
40 bullous pemphigoid 8.8 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
41 epidermolysis bullosa, junctional, non-herlitz type 7.9 COL17A1 ITGA6 ITGB4 LAD1 LAMC2 PLEC

Graphical network of the top 20 diseases related to Pyloric Atresia:



Diseases related to Pyloric Atresia

Symptoms & Phenotypes for Pyloric Atresia

Symptoms via clinical synopsis from OMIM:

57
GI:
congenital pyloric atresia

Misc:
polyhydramnios
fetal dilated stomach


Clinical features from OMIM:

265950

Human phenotypes related to Pyloric Atresia:

32
# Description HPO Frequency HPO Source Accession
1 polyhydramnios 32 HP:0001561
2 congenital pyloric atresia 32 HP:0004399

Drugs & Therapeutics for Pyloric Atresia

Search Clinical Trials , NIH Clinical Center for Pyloric Atresia

Genetic Tests for Pyloric Atresia

Anatomical Context for Pyloric Atresia

MalaCards organs/tissues related to Pyloric Atresia:

41
Skin, Testes, Pancreas, Kidney

Publications for Pyloric Atresia

Articles related to Pyloric Atresia:

(show top 50) (show all 100)
# Title Authors Year
1
Congenital pyloric atresia - nine new cases: Single-center experience of the long-term follow-up and the lessons learnt over a decade. ( 29754879 )
2018
2
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. ( 29380424 )
2018
3
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. ( 29198538 )
2018
4
Large Gap Congenital Pyloric Atresia with Meconium Peritonitis: When Gastrojejunostsomy Is the Best Option. ( 28958251 )
2017
5
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. ( 27813154 )
2017
6
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. ( 28557647 )
2017
7
Pyloric atresia: a challenge in an underdeveloped country. ( 29610648 )
2017
8
Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis. ( 27385295 )
2016
9
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. ( 26739954 )
2016
10
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2016
11
Congenital pyloric atresia: Early and delayed presentations-A single centre experience of a rare anomaly. ( 27116690 )
2016
12
IMAGES IN CLINICAL MEDICINE. Single Bubble--Pyloric Atresia. ( 26308687 )
2015
13
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). ( 27186702 )
2015
14
Splicing abnormality of integrin I^4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. ( 25728941 )
2015
15
A case of congenital pyloric atresia with dystrophic epidermolysis bullosa. ( 24781346 )
2014
16
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. ( 25521984 )
2014
17
Congenital Pyloric Atresia with Distal Duodenal Atresia- Role of CT Scan. ( 26023508 )
2014
18
Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases. ( 27278032 )
2014
19
Congenital pyloric atresia, type B; with junctional epidermolysis bullosa. ( 24968903 )
2014
20
Pyloric atresia--three cases and review of literature. ( 25323191 )
2014
21
Pyloric atresia in the neonate. ( 25391592 )
2014
22
Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases. ( 24952792 )
2014
23
Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation. ( 23832020 )
2013
24
Laparoscopic management of pyloric atresia in a neonate with epidermolysis bullosa. ( 23755856 )
2013
25
The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia. ( 23613220 )
2013
26
Epidermolysis bullosa and congenital pyloric atresia. ( 24068383 )
2013
27
A case of successful surgical repair for solid segment type pyloric atresia using a novel gastroduodenostomy procedure. ( 23164017 )
2012
28
First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation. ( 22354727 )
2012
29
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin I^4 gene. ( 21969027 )
2012
30
Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature. ( 22864723 )
2012
31
Case of epidermolysis bullosa with pyloric atresia. ( 22028570 )
2011
32
Pyloric atresia associated with Dieulafoy lesion and gastric dysmotility in a neonate. ( 22008357 )
2011
33
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. ( 21413955 )
2011
34
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. ( 20665883 )
2010
35
Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator. ( 20695865 )
2010
36
Epidermolysis bullosa with pyloric atresia. ( 19945615 )
2010
37
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. ( 20596088 )
2010
38
Ectopic drainage of the common bile duct into the lesser curvature of the gastric antrum in a newborn with pyloric atresia, annular pancreas and congenital short bowel syndrome. ( 18818913 )
2009
39
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. ( 18779879 )
2008
40
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. ( 18955862 )
2008
41
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. ( 18563182 )
2008
42
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. ( 18348258 )
2008
43
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. ( 17512702 )
2007
44
Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk. ( 15912478 )
2005
45
Congenital pyloric atresia: isolated and associated with aplasia cutis congenita. ( 16202367 )
2005
46
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). ( 15681471 )
2005
47
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. ( 15654962 )
2005
48
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. ( 15491419 )
2004
49
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4). ( 15009117 )
2004
50
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. ( 14705814 )
2003

Variations for Pyloric Atresia

Expression for Pyloric Atresia

Search GEO for disease gene expression data for Pyloric Atresia.

Pathways for Pyloric Atresia

Pathways related to Pyloric Atresia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 COL17A1 ITGA6 ITGB4 LAMC2
2
Show member pathways
12.38 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
3
Show member pathways
12.21 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
4
Show member pathways
11.98 ITGA6 ITGB4 LAMC2
5
Show member pathways
11.76 ITGA6 ITGB4 LAMC2
6
Show member pathways
11.64 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
7 11.63 ITGA6 ITGB4 PLEC
8 11.45 ITGA6 ITGB4
9
Show member pathways
11.32 ITGA6 ITGB4 LAMC2
10 11.3 ITGA6 ITGB4
11 11.08 ITGA6 ITGB4
13 10.62 COL17A1 ITGA6 ITGB4

GO Terms for Pyloric Atresia

Cellular components related to Pyloric Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.26 COL17A1 ITGA6 LAD1 LAMC2
2 integrin complex GO:0008305 9.16 ITGA6 ITGB4
3 hemidesmosome GO:0030056 8.92 COL17A1 ITGA6 ITGB4 PLEC

Biological processes related to Pyloric Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 ITGA6 ITGB4 LAMC2
2 skin development GO:0043588 9.43 ITGA6 ITGB4
3 digestive tract development GO:0048565 9.4 ITGA6 ITGB4
4 cell-matrix adhesion GO:0007160 9.33 COL17A1 ITGA6 ITGB4
5 renal system development GO:0072001 9.32 ITGA6 ITGB4
6 amelogenesis GO:0097186 9.26 ITGA6 ITGB4
7 hemidesmosome assembly GO:0031581 9.02 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
8 nail development GO:0035878 8.96 ITGA6 ITGB4

Molecular functions related to Pyloric Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.33 ITGA6 LAD1 PLEC
2 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
3 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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