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, colon and kidney, 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 42)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex with pyloric atresia 34.2 ITGB4 PLEC
2 epidermolysis bullosa with pyloric atresia 34.0 ITGA6 ITGB4 PLEC
3 epidermolysis bullosa junctionalis with pyloric atresia 33.5 COL17A1 GALK1 ITGA6 ITGA6-AS1 ITGB4 PLEC
4 epidermolysis bullosa 30.8 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
5 junctional epidermolysis bullosa 30.7 COL17A1 ITGA6 ITGB4 LAMC2
6 aplasia cutis congenita 30.5 ITGA6 ITGB4
7 epidermolysis bullosa simplex 30.3 COL17A1 ITGB4 PLEC
8 skin disease 29.3 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
9 epidermolysis bullosa, junctional, herlitz type 10.3
10 peritonitis 10.1
11 lichen planus pemphigoides 10.0 COL17A1 ITGB4
12 epidermolysis bullosa simplex with muscular dystrophy 10.0 COL17A1 PLEC
13 autoimmune disease of skin and connective tissue 10.0 COL17A1 PLEC
14 epidermolysis bullosa acquisita 10.0 COL17A1 ITGB4
15 epithelial basement membrane dystrophy 10.0 COL17A1 PLEC
16 ocular cicatricial pemphigoid 9.9 ITGA6 ITGB4
17 gastroesophageal reflux 9.9
18 epidermolysis bullosa simplex, dowling-meara type 9.9
19 pancreas, annular 9.9
20 down syndrome 9.9
21 duodenal atresia 9.9
22 jejunal atresia 9.9
23 congenital short bowel syndrome 9.9
24 autosomal recessive disease 9.9
25 polycystic kidney disease 9.9
26 intestinal atresia 9.9
27 short bowel syndrome 9.9
28 protein-losing enteropathy 9.9
29 dieulafoy lesion 9.9
30 pyloric stenosis 9.9
31 urinary tract obstruction 9.9
32 kidney disease 9.9
33 autosomal dominant polycystic kidney disease 9.9
34 muscular dystrophy 9.9
35 mosaic trisomy 8 9.9
36 tracheoesophageal fistula 9.9
37 high anorectal malformation 9.9
38 linear iga disease 9.8 COL17A1 ITGB4 LAD1
39 cicatricial pemphigoid 9.7 COL17A1 ITGA6 ITGB4 LAMC2
40 vesiculobullous skin disease 9.6 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
41 epidermolysis bullosa, junctional, non-herlitz type 9.3 COL17A1 ITGA6 ITGB4 LAD1 LAMC2 PLEC
42 bullous pemphigoid 9.3 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
Misc:
polyhydramnios
fetal dilated stomach

G I:
congenital pyloric atresia


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, Colon, Kidney, Testes, Pancreas

Publications for Pyloric Atresia

Articles related to Pyloric Atresia:

(show top 50) (show all 184)
# 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
Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4. ( 30079450 )
2018
5
Large Gap Congenital Pyloric Atresia with Meconium Peritonitis: When Gastrojejunostsomy Is the Best Option. ( 28958251 )
2017
6
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. ( 27813154 )
2017
7
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. ( 28557647 )
2017
8
Pyloric atresia: a challenge in an underdeveloped country. ( 29610648 )
2017
9
Large Gap Congenital Pyloric Atresia with Meconium Peritonitis: When Gastrojejunostsomy Is the Best Option. ( 30454353 )
2017
10
Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis. ( 27385295 )
2016
11
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. ( 26739954 )
2016
12
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2016
13
Congenital pyloric atresia: Early and delayed presentations-A single centre experience of a rare anomaly. ( 27116690 )
2016
14
IMAGES IN CLINICAL MEDICINE. Single Bubble--Pyloric Atresia. ( 26308687 )
2015
15
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). ( 27186702 )
2015
16
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
17
A case of congenital pyloric atresia with dystrophic epidermolysis bullosa. ( 24781346 )
2014
18
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. ( 25521984 )
2014
19
Congenital Pyloric Atresia with Distal Duodenal Atresia- Role of CT Scan. ( 26023508 )
2014
20
Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases. ( 27278032 )
2014
21
Congenital pyloric atresia, type B; with junctional epidermolysis bullosa. ( 24968903 )
2014
22
Pyloric atresia--three cases and review of literature. ( 25323191 )
2014
23
Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases. ( 24952792 )
2014
24
Pyloric atresia in the neonate. ( 25391592 )
2014
25
Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation. ( 23832020 )
2013
26
Laparoscopic management of pyloric atresia in a neonate with epidermolysis bullosa. ( 23755856 )
2013
27
The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia. ( 23613220 )
2013
28
Epidermolysis bullosa and congenital pyloric atresia. ( 24068383 )
2013
29
Syndromic association of pyloric atresia and epidermolysis bullosa (Carmi syndrome)--a case report. ( 24564066 )
2013
30
Prenatal diagnosis of isolated congenital pyloric atresia in a sibling. ( 23409992 )
2013
31
A neonate with generalised bullae and pyloric atresia. ( 23535685 )
2013
32
Pyloric atresia: A report of ten patients. ( 23860076 )
2013
33
Pyloric atresia. ( 26023436 )
2013
34
Pyloric Atresia Type II. ( 26023456 )
2013
35
Congenital pyloric atresia and associated anomalies: a case series. ( 26023460 )
2013
36
A case of successful surgical repair for solid segment type pyloric atresia using a novel gastroduodenostomy procedure. ( 23164017 )
2012
37
First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation. ( 22354727 )
2012
38
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin I^4 gene. ( 21969027 )
2012
39
Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature. ( 22864723 )
2012
40
Pyloric atresia in association with multiple colonic atresias in a neonate: an unreported association. ( 26023365 )
2012
41
Missed congenital pyloric atresia with gastric perforation in a neonate. ( 26023391 )
2012
42
Case of epidermolysis bullosa with pyloric atresia. ( 22028570 )
2011
43
Pyloric atresia associated with Dieulafoy lesion and gastric dysmotility in a neonate. ( 22008357 )
2011
44
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. ( 21413955 )
2011
45
Pyloric atresia. ( 21337899 )
2011
46
Gastric serosal tear due to congenital pyloric atresia: a rare anomaly, a rare complication. ( 22005374 )
2011
47
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. ( 20665883 )
2010
48
Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator. ( 20695865 )
2010
49
Epidermolysis bullosa with pyloric atresia. ( 19945615 )
2010
50
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. ( 20596088 )
2010

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 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
12.02 ITGA6 ITGB4 LAMC2
5
Show member pathways
11.88 COL17A1 ITGA6 ITGB4 LAMC2
6
Show member pathways
11.76 ITGA6 ITGB4 LAMC2
7
Show member pathways
11.64 COL17A1 ITGA6 ITGB4 LAMC2 PLEC
8 11.63 ITGA6 ITGB4 PLEC
9 11.32 ITGA6 ITGB4
10
Show member pathways
11.32 ITGA6 ITGB4 LAMC2
11 11.11 ITGA6 ITGB4
13 10.64 COL17A1 ITGA6 ITGB4 LAMC2
14 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 focal adhesion GO:0005925 9.43 ITGA6 ITGB4 PLEC
2 basement membrane GO:0005604 9.26 COL17A1 ITGA6 LAD1 LAMC2
3 integrin complex GO:0008305 9.16 ITGA6 ITGB4
4 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 skin development GO:0043588 9.43 ITGA6 ITGB4
2 cell-matrix adhesion GO:0007160 9.43 COL17A1 ITGA6 ITGB4
3 digestive tract development GO:0048565 9.4 ITGA6 ITGB4
4 renal system development GO:0072001 9.37 ITGA6 ITGB4
5 amelogenesis GO:0097186 9.32 ITGA6 ITGB4
6 extracellular matrix organization GO:0030198 9.26 COL17A1 ITGA6 ITGB4 LAMC2
7 nail development GO:0035878 9.16 ITGA6 ITGB4
8 hemidesmosome assembly GO:0031581 9.02 COL17A1 ITGA6 ITGB4 LAMC2 PLEC

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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