Aliases & Classifications for Pyloric Atresia

MalaCards integrated aliases for Pyloric Atresia:

Name: Pyloric Atresia 57 54

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
pyloric atresia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 265950
MedGen 41 C0266159
SNOMED-CT via HPO 68 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, pancreas and kidney, and related phenotypes are polyhydramnios and congenital pyloric atresia

More information from OMIM: 265950

Related Diseases for Pyloric Atresia

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex with pyloric atresia 32.9 PLEC ITGB4
2 epidermolysis bullosa with pyloric atresia 32.4 PLEC ITGB4 ITGA6 GALK1
3 epidermolysis bullosa junctionalis with pyloric atresia 31.1 PLEC LAMC2 ITGB4 ITGA6-AS1 ITGA6 GALK1
4 aplasia cutis congenita, nonsyndromic 30.7 PLEC ITGB4
5 epidermolysis bullosa, junctional, herlitz type 30.2 LAMC2 COL17A1
6 epidermolysis bullosa simplex with muscular dystrophy 30.1 PLEC COL17A1
7 epidermolysis bullosa simplex 30.1 PLEC ITGB4 GALK1 COL17A1
8 epidermolysis bullosa 29.8 PLEC LAMC2 LAD1 ITGB4 ITGA6 GALK1
9 epidermolysis bullosa simplex, localized 29.7 PLEC ITGB4 GALK1
10 pemphigoid 29.7 ITGB4 ITGA6 COL17A1
11 linear iga disease 29.5 LAD1 ITGB4 COL17A1
12 kindler syndrome 29.4 PLEC ITGB4 ITGA6 COL17A1
13 epidermolysis bullosa dystrophica 29.3 PLEC LAMC2 ITGB4 COL17A1
14 junctional epidermolysis bullosa 29.1 PLEC LAMC2 LAD1 ITGB4 ITGA6 GALK1
15 skin disease 28.8 PLEC LAMC2 LAD1 ITGB4 ITGA6 GALK1
16 epidermolysis bullosa, junctional, non-herlitz type 28.6 PLEC LAMC2 LAD1 ITGB4 ITGA6 GALK1
17 bullous pemphigoid 28.5 PLEC LAMC2 LAD1 ITGB4 ITGA6 COL17A1
18 polyhydramnios 10.5
19 autosomal recessive disease 10.4
20 muscular dystrophy 10.3
21 gastric dilatation 10.3
22 duodenal atresia 10.2
23 esophageal atresia 10.2
24 erythrokeratoderma ''en cocardes'' 10.2
25 protein-losing enteropathy 10.1
26 hydronephrosis 10.1
27 pyloric stenosis 10.1
28 urinary tract obstruction 10.1
29 intestinal obstruction 10.1
30 inherited epidermolysis bullosa 10.1
31 ocular cicatricial pemphigoid 10.1 ITGB4 ITGA6
32 lichen planus pemphigoides 10.1 ITGB4 COL17A1
33 gastroesophageal reflux 10.0
34 epidermolysis bullosa simplex, ogna type 10.0
35 tracheoesophageal fistula with or without esophageal atresia 10.0
36 jejunal atresia 10.0
37 muscular dystrophy, limb-girdle, autosomal recessive 17 10.0
38 epidermolysis bullosa simplex with nail dystrophy 10.0
39 diarrhea 10.0
40 epidermolysa bullosa simplex with muscular dystrophy 10.0
41 epithelial and subepithelial dystrophy 10.0 PLEC COL17A1
42 lichen planus 10.0 LAMC2 COL17A1
43 cleft palate, isolated 9.9
44 epidermolysis bullosa simplex, dowling-meara type 9.9
45 meckel diverticulum 9.9
46 pancreas, annular 9.9
47 neural tube defects 9.9
48 down syndrome 9.9
49 ureterocele 9.9
50 restrictive dermopathy, lethal 9.9

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



Diseases related to Pyloric Atresia

Symptoms & Phenotypes for Pyloric Atresia

Human phenotypes related to Pyloric Atresia:

31
# Description HPO Frequency HPO Source Accession
1 polyhydramnios 31 HP:0001561
2 congenital pyloric atresia 31 HP:0004399

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Misc:
polyhydramnios
fetal dilated stomach

G I:
congenital pyloric atresia

Clinical features from OMIM®:

265950 (Updated 20-May-2021)

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:

40
Skin, Pancreas, Kidney, Heart

Publications for Pyloric Atresia

Articles related to Pyloric Atresia:

(show top 50) (show all 278)
# Title Authors PMID Year
1
Prenatal diagnosis of familial congenital pyloric atresia. 61 57
1553362 1992
2
Congenital pyloric atresia: a report of three cases. 61 57
7337134 1981
3
Congenital pyloric atresia in siblings. 57 61
4565231 1973
4
Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission. 57 61
5025486 1972
5
Congenital pyloric atresia: a report of three cases and a review of the literature. 57 61
5538944 1971
6
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 61 54
20052759 2010
7
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 54 61
18955862 2008
8
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. 54 61
18779879 2008
9
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. 61 54
17512702 2007
10
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). 54 61
15681471 2005
11
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 61 54
15654962 2005
12
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. 54 61
15491419 2004
13
Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. 54 61
14675179 2003
14
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. 61 54
14705814 2003
15
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 54 61
11328943 2001
16
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 61 54
11251584 2001
17
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 54 61
10792571 2000
18
Partial rescue of epithelial phenotype in integrin beta4 null mice by a keratin-5 promoter driven human integrin beta4 transgene. 54 61
10547352 1999
19
Pyloric atresia with junctional epidermolysis bullosa (PA-JEB) syndrome: absence of detectable beta4 integrin and reduced expression of epidermal linear IgA dermatosis antigen. 54 61
10397589 1999
20
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 54 61
9792864 1998
21
A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. 61 54
9804362 1998
22
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 54 61
9546354 1998
23
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 61 54
9422533 1998
24
Hemidesmosome assembly assessed by expression of a wild-type integrin beta 4 cDNA in junctional epidermolysis bullosa keratinocytes. 61 54
9389789 1997
25
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. 61 54
9194858 1997
26
Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. 54 61
8832392 1996
27
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. 61 54
7545057 1995
28
Ultrastructural findings in epidermolysis bullosa. 54 61
7504435 1993
29
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling. 61
30280950 2021
30
Prenatally diagnosed congenital pyloric atresia in consecutive three siblings: a case report. 61
33409865 2021
31
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review. 61
32506467 2021
32
A new prenatal sonographic sign of epidermolysis bullosa. 61
32935879 2021
33
[Junctional epidermolysis bullosa-pyloric atresia syndrome with extensive congenital aplasia cutis]. 61
33293240 2020
34
Carmi Syndrome in a Neonate: An Exacting Surgical Challenge. 61
33094063 2020
35
Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities. 61
32882768 2020
36
Epidermolysis bullosa with congenital absence of skin: Review of the literature. 61
32686866 2020
37
Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia. 61
32359087 2020
38
Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intra-basal epidermal and lamina lucida cleavage planes: a survey of six cases. 61
31851393 2020
39
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations. 61
31513275 2019
40
Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment. 61
29935895 2019
41
[Syndromes with skin fragility]. 61
31197392 2019
42
Treatment of Congenital Gastric Outlet Obstruction due to a Web: A Retrospective Single-center Review. 61
30870314 2019
43
Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4. 61
30079450 2019
44
Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene. 61
30523708 2019
45
Congenital pyloric atresia - nine new cases: Single-center experience of the long-term follow-up and the lessons learnt over a decade. 61
29754879 2018
46
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. 61
29380424 2018
47
Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome. 61
29777447 2018
48
Advanced minimal access surgery in infants weighing less than 3kg: A single center experience. 61
28549685 2018
49
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. 61
29198538 2018
50
Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge. 61
30671273 2018

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 LAMC2 ITGB4 ITGA6 COL17A1
2
Show member pathways
12.39 PLEC LAMC2 ITGB4 ITGA6 COL17A1
3
Show member pathways
12.21 PLEC LAMC2 ITGB4 ITGA6 COL17A1
4
Show member pathways
12.13 LAMC2 ITGB4 ITGA6
5
Show member pathways
11.74 LAMC2 ITGB4 ITGA6
6
Show member pathways
11.64 PLEC LAMC2 ITGB4 ITGA6 COL17A1
7 11.59 PLEC ITGB4 ITGA6
8 11.3 ITGB4 ITGA6
9 11.06 ITGB4 ITGA6
11 10.62 ITGB4 ITGA6 COL17A1
12 10.61 LAMC2 ITGB4 ITGA6 COL17A1

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 PLEC ITGB4 ITGA6
2 basement membrane GO:0005604 9.26 LAMC2 LAD1 ITGB4 COL17A1
3 integrin complex GO:0008305 9.16 ITGB4 ITGA6
4 hemidesmosome GO:0030056 8.8 PLEC ITGB4 COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 skin morphogenesis GO:0043589 9.26 ITGB4 ITGA6
2 extracellular matrix organization GO:0030198 9.26 LAMC2 ITGB4 ITGA6 COL17A1
3 nail development GO:0035878 9.16 ITGB4 ITGA6
4 hemidesmosome assembly GO:0031581 9.02 PLEC LAMC2 ITGB4 ITGA6 COL17A1

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 PLEC LAD1 ITGA6
2 insulin-like growth factor I binding GO:0031994 8.96 ITGB4 ITGA6
3 neuregulin binding GO:0038132 8.62 ITGB4 ITGA6

Sources for Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....