MCID: EPD025
MIFTS: 28

Epidermolysis Bullosa with Pyloric Atresia

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa with Pyloric Atresia

MalaCards integrated aliases for Epidermolysis Bullosa with Pyloric Atresia:

Name: Epidermolysis Bullosa with Pyloric Atresia 23 24 25 69
Eb-Pa 23 24 25 52
Junctional Epidermolysis Bullosa with Pyloric Atresia 23 24 25
Carmi Syndrome 23 24 25
Pa-Jeb 23 24 25
Jeb with Pyloric Atresia 24

Characteristics:

GeneReviews:

23
Penetrance Pathogenic variants in itga6, itgb4, and plec are 100% penetrant in individuals who have biallelic pathogenic variants in the same gene...

Classifications:



Summaries for Epidermolysis Bullosa with Pyloric Atresia

Genetics Home Reference : 25 Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.

MalaCards based summary : Epidermolysis Bullosa with Pyloric Atresia, also known as eb-pa, is related to itga6-related epidermolysis bullosa with pyloric atresia and itgb4-related epidermolysis bullosa with pyloric atresia. An important gene associated with Epidermolysis Bullosa with Pyloric Atresia is PLEC (Plectin), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include skin, testes and kidney, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and integument

GeneReviews: NBK1157

Related Diseases for Epidermolysis Bullosa with Pyloric Atresia

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



Diseases related to Epidermolysis Bullosa with Pyloric Atresia

Symptoms & Phenotypes for Epidermolysis Bullosa with Pyloric Atresia

GenomeRNAi Phenotypes related to Epidermolysis Bullosa with Pyloric Atresia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.8 ITGA6 ITGB4 PLEC

MGI Mouse Phenotypes related to Epidermolysis Bullosa with Pyloric Atresia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 ITGA6 ITGB4 PLEC

Drugs & Therapeutics for Epidermolysis Bullosa with Pyloric Atresia

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa with Pyloric Atresia

Genetic Tests for Epidermolysis Bullosa with Pyloric Atresia

Genetic tests related to Epidermolysis Bullosa with Pyloric Atresia:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa with Pyloric Atresia 24 PLEC

Anatomical Context for Epidermolysis Bullosa with Pyloric Atresia

MalaCards organs/tissues related to Epidermolysis Bullosa with Pyloric Atresia:

39
Skin, Testes, Kidney

Publications for Epidermolysis Bullosa with Pyloric Atresia

Articles related to Epidermolysis Bullosa with Pyloric Atresia:

(show all 30)
id Title Authors Year
1
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. ( 27813154 )
2017
2
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. ( 28557647 )
2017
3
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. ( 26739954 )
2016
4
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2016
5
The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia. ( 23613220 )
2013
6
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin I^4 gene. ( 21969027 )
2012
7
First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation. ( 22354727 )
2012
8
Case of epidermolysis bullosa with pyloric atresia. ( 22028570 )
2011
9
Epidermolysis bullosa with pyloric atresia. ( 19945615 )
2010
10
Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator. ( 20695865 )
2010
11
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. ( 20596088 )
2010
12
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. ( 18563182 )
2008
13
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. ( 17512702 )
2007
14
Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk. ( 15912478 )
2005
15
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. ( 15654962 )
2005
16
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. ( 15491419 )
2004
17
Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. ( 14675179 )
2003
18
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. ( 14705814 )
2003
19
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. ( 11251584 )
2001
20
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. ( 10484780 )
1999
21
Junctional epidermolysis bullosa with pyloric atresia: A case with favourable outcome. ( 9822785 )
1998
22
A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. ( 9804362 )
1998
23
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4). ( 9422533 )
1998
24
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. ( 9546354 )
1998
25
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. ( 9792864 )
1998
26
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. ( 9185503 )
1997
27
Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. ( 8832392 )
1996
28
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. ( 7545057 )
1995
29
Epidermolysis Bullosa with Pyloric Atresia ( 20301336 )
1993
30
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. ( 8291561 )
1993

Variations for Epidermolysis Bullosa with Pyloric Atresia

Expression for Epidermolysis Bullosa with Pyloric Atresia

Search GEO for disease gene expression data for Epidermolysis Bullosa with Pyloric Atresia.

Pathways for Epidermolysis Bullosa with Pyloric Atresia

Pathways related to Epidermolysis Bullosa with Pyloric Atresia according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 ITGA6 ITGB4 PLEC
2
Show member pathways
12.15 ITGA6 ITGB4 PLEC
3
Show member pathways
12.05 ITGA6 ITGB4 PLEC
4
Show member pathways
11.95 ITGA6 ITGB4
5
Show member pathways
11.88 ITGA6 ITGB4
6
Show member pathways
11.77 ITGA6 ITGB4
7
Show member pathways
11.73 ITGA6 ITGB4
8
Show member pathways
11.7 ITGA6 ITGB4
9 11.51 ITGA6 ITGB4
10 11.41 ITGA6 ITGB4
11
Show member pathways
11.28 ITGA6 ITGB4
12 11.26 ITGA6 ITGB4
13 11.22 ITGA6 ITGB4
14 10.97 ITGA6 ITGB4
15 10.84 ITGA6 ITGB4 PLEC
16 10.65 ITGA6 ITGB4

GO Terms for Epidermolysis Bullosa with Pyloric Atresia

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

id Name GO ID Score Top Affiliating Genes
1 integrin complex GO:0008305 8.96 ITGA6 ITGB4
2 hemidesmosome GO:0030056 8.8 ITGA6 ITGB4 PLEC

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.46 ITGA6 ITGB4
2 cell-matrix adhesion GO:0007160 9.43 ITGA6 ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.4 ITGA6 ITGB4
4 skin development GO:0043588 9.37 ITGA6 ITGB4
5 digestive tract development GO:0048565 9.32 ITGA6 ITGB4
6 renal system development GO:0072001 9.26 ITGA6 ITGB4
7 amelogenesis GO:0097186 9.16 ITGA6 ITGB4
8 nail development GO:0035878 8.96 ITGA6 ITGB4
9 hemidesmosome assembly GO:0031581 8.8 ITGA6 ITGB4 PLEC

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

id Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.16 ITGA6 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 Epidermolysis Bullosa with Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....