EB-PA
MCID: EPD077
MIFTS: 53

Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

MalaCards integrated aliases for Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

Name: Epidermolysis Bullosa Junctionalis with Pyloric Atresia 58 12 54 30 6
Junctional Epidermolysis Bullosa with Pyloric Atresia 58 12 54 76 15
Carmi Syndrome 58 12 54 60 76
Jeb-Pa 58 12 54 60
Epidermolysis Bullosa, Junctional, with Pyloric Atresia 58 13 41
Aplasia Cutis Congenita with Gastrointestinal Atresia 58 54 76
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome 12 60
Epidermolysis Bullosa with Pyloric Atresia 54 74
Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita 58
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 58
Epidermolysis Bullosa Letalis, with Pyloric Atresia 76
Junctional Epidermolysis Bullosa - Pyloric Atresia 54
Eb-Pa-Acc 58
Pa-Jeb 76
Eb-Pa 76

Characteristics:

Orphanet epidemiological data:

60
junctional epidermolysis bullosa-pyloric atresia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death usually in infancy
see also simplex eb with pyloric atresia


HPO:

33
epidermolysis bullosa junctionalis with pyloric atresia:
Clinical modifier death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

OMIM : 58 Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. Uitto et al. (1997) and Pulkkinen and Uitto (1998) proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the hemidesmosomal region of the skin. However, in subsequent reports of consensus conferences, 12,11:Fine et al. (2000, 2008) eliminated the term 'hemidesmosomal' because it added undue confusion. The disorder is considered to be a form of junctional EB because skin cleavage occurs within the lamina lucida. Hemidesmosome may be abnormal because the integrins span this region. In a study involving 265 cases of junctional or hemidesmosomal EB, Varki et al. (2006) reviewed the clinical and molecular heterogeneity of these subtypes of EB, discussed exceptions to the general rules on genotype-phenotype correlations, and noted unusual phenotypes and genetics observed in patients and families with EB. (226730)

MalaCards based summary : Epidermolysis Bullosa Junctionalis with Pyloric Atresia, also known as junctional epidermolysis bullosa with pyloric atresia, is related to epidermolysis bullosa with pyloric atresia and epidermolysis bullosa simplex with pyloric atresia. An important gene associated with Epidermolysis Bullosa Junctionalis with Pyloric Atresia is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, kidney and testes, and related phenotypes are nausea and vomiting and abdominal distention

Disease Ontology : 12 A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has material basis in mutations in the ITGB4 or ITGA6 genes.

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa letalis, with pyloric atresia: An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.

Related Diseases for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 33.5 ITGA6 ITGB4 PLEC
2 epidermolysis bullosa simplex with pyloric atresia 30.8 ITGB4 PLEC
3 pyloric atresia 30.7 COL17A1 GALK1 ITGA6 ITGA6-AS1 ITGB4 LAMC2
4 junctional epidermolysis bullosa 30.7 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
5 linear iga disease 30.5 COL17A1 DST ITGB4
6 epidermolysis bullosa 30.5 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
7 aplasia cutis congenita 30.3 ACHE ITGA6 ITGB4
8 epidermolysis bullosa, junctional, herlitz type 30.1 ACHE AFP LAMA3 LAMC2
9 kidney disease 10.3
10 autosomal dominant polycystic kidney disease 10.3
11 polycystic kidney disease 10.3
12 maternal uniparental disomy of chromosome 1 10.2 LAMA3 LAMC2
13 pemphigoid gestationis 10.1 COL17A1 DST
14 neurotic excoriation 10.1 COL17A1 DST
15 kindler syndrome 10.1 DST ITGB4
16 lichen planus pemphigoides 10.1 COL17A1 DST ITGB4
17 enterocolitis 10.0
18 protein-losing enteropathy 10.0
19 bullous skin disease 10.0 COL17A1 DST LAMA3
20 epidermolysis bullosa simplex with muscular dystrophy 10.0 COL17A1 DST PLEC
21 lichen disease 10.0 COL17A1 DST
22 cellulitis 10.0 COL17A1 DST LAMA3
23 epithelial basement membrane dystrophy 9.9 COL17A1 PLEC
24 epidermolysis bullosa simplex 9.9 COL17A1 DST ITGB4 PLEC
25 epidermolysis bullosa acquisita 9.9 COL17A1 DST ITGB4 LAMA3
26 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST LAMA3 PLEC
27 nephrotic syndrome, type 1 9.7 ACHE AFP
28 cicatricial pemphigoid 9.6 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
29 vesiculobullous skin disease 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
30 skin disease 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
31 epidermolysis bullosa, junctional, non-herlitz type 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
32 bullous pemphigoid 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2

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



Diseases related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Symptoms & Phenotypes for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Human phenotypes related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
3 intestinal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011100
4 oral mucosal blisters 60 33 hallmark (90%) Very frequent (99-80%) HP:0200097
5 congenital pyloric atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004399
6 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
7 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
8 renal duplication 60 33 frequent (33%) Frequent (79-30%) HP:0000075
9 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
10 recurrent skin infections 60 33 frequent (33%) Frequent (79-30%) HP:0001581
11 renal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000110
12 hypoplasia of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0006297
13 ureterocele 60 33 frequent (33%) Frequent (79-30%) HP:0000070
14 aplasia of the bladder 60 33 frequent (33%) Frequent (79-30%) HP:0010477
15 urethral stricture 60 33 frequent (33%) Frequent (79-30%) HP:0012227
16 urinary bladder inflammation 60 33 frequent (33%) Frequent (79-30%) HP:0100577
17 nail dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008404
18 ectropion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000656
19 pterygium 60 33 occasional (7.5%) Occasional (29-5%) HP:0001059
20 aplasia cutis congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0001057
21 abnormal blistering of the skin 60 Very frequent (99-80%)
22 arthrogryposis multiplex congenita 33 HP:0002804
23 anonychia 33 HP:0001798
24 nail dysplasia 33 HP:0002164
25 esophageal atresia 33 HP:0002032
26 abnormality of the genitourinary system 33 HP:0000119
27 elevated maternal serum alpha-fetoprotein 33 HP:0005984
28 milia 33 HP:0001056
29 atrophic scars 33 HP:0001075
30 fragile skin 33 HP:0001030
31 intractable diarrhea 33 HP:0002041
32 junctional split 33 HP:0003341
33 axillary pterygium 33 HP:0001060

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
milia
atrophic scarring
epidermolysis bullosa junctional
blistering, generalized
congenital absence of skin on some areas (aplasia cutis)
more
Skin Nails Hair Nails:
absent nails
dystrophic nails

Head And Neck Ears:
rudimentary ears

Genitourinary Kidneys:
pyelonephrosis

Skin Nails Hair Skin Electron Microscopy:
cleavage occurs within the lamina lucida
hemidesmosomes may be disrupted

Abdomen Gastrointestinal:
esophageal atresia
esophageal lesions
pyloric atresia

Head And Neck Teeth:
enamel hypoplasia

Skeletal:
joint contractures

Head And Neck Mouth:
oral lesions

Genitourinary Bladder:
urethrovesical occlusion
stenosis at the ureterovesical junctions

Laboratory Abnormalities:
increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

Clinical features from OMIM:

226730

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

27
# 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 8.92 ITGA6 ITGB4 PLEC SHC1

MGI Mouse Phenotypes related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ACHE CDKN1B FN1 ITGA6 ITGB4 LAMA3
2 homeostasis/metabolism MP:0005376 10.02 ACHE AFP CDKN1B FN1 GALK1 ITGB2
3 craniofacial MP:0005382 9.98 ACHE CDKN1B FN1 ITGA6 ITGB4 LAMA3
4 immune system MP:0005387 9.91 CDKN1B FN1 ITGA6 ITGB2 ITGB4 LAMA3
5 integument MP:0010771 9.81 CDKN1B FN1 ITGA6 ITGB2 ITGB4 LAMA3
6 hearing/vestibular/ear MP:0005377 9.77 ACHE CDKN1B ITGA6 ITGB4 LAMC2
7 mortality/aging MP:0010768 9.7 ACHE AFP CDKN1B FN1 ITGA6 ITGB2
8 respiratory system MP:0005388 9.1 ACHE CDKN1B ITGA6 ITGB4 LAMA3 LAMC2

Drugs & Therapeutics for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

Genetic Tests for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Genetic tests related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 30 ITGA6 ITGB4 PLEC

Anatomical Context for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

42
Skin, Kidney, Testes

Publications for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Articles related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

(show all 24)
# Title Authors Year
1
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. ( 29380424 )
2018
2
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2017
3
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene. ( 21969027 )
2012
4
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. ( 20596088 )
2010
5
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
6
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. ( 17512702 )
2007
7
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. ( 15491419 )
2004
8
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
9
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. ( 14705814 )
2003
10
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. ( 11328943 )
2001
11
Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. ( 11886501 )
2001
12
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. ( 11251584 )
2001
13
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
14
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
15
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. ( 9546354 )
1998
16
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. ( 9792864 )
1998
17
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
18
Junctional epidermolysis bullosa with pyloric atresia: A case with favourable outcome. ( 9822785 )
1998
19
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. ( 9892956 )
1998
20
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. ( 9185503 )
1997
21
Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. ( 8832392 )
1996
22
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. ( 7545057 )
1995
23
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. ( 8291561 )
1993
24
Aplasia cutis congenita in two sibs discordant for pyloric atresia. ( 6177243 )
1982

Variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 ITGB4 p.Cys61Tyr VAR_004006 rs80338755
2 ITGB4 p.Leu156Pro VAR_004007 rs121912461
3 ITGB4 p.Cys245Gly VAR_004008
4 ITGB4 p.Arg252Cys VAR_004009 rs201494421
5 ITGB4 p.Cys562Arg VAR_004010 rs121912463
6 ITGB4 p.Arg1281Trp VAR_004011 rs121912467
7 ITGB4 p.Cys38Arg VAR_010652 rs121912465
8 ITGB4 p.Asp131Tyr VAR_011293
9 ITGB4 p.Gly273Asp VAR_011294 rs147656858
10 ITGB4 p.Arg283Cys VAR_011295 rs142279713
11 ITGB4 p.Val325Asp VAR_011296 rs130488852
12 ITGB4 p.Leu336Pro VAR_011297
13 ITGB4 p.Arg1225His VAR_011301 rs121912468

ClinVar genetic disease variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

6 (show top 50) (show all 427)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB4 ITGB4, 1-BP INS, 3801T insertion Pathogenic
2 ITGB4 ITGB4, 1-BP DEL, 1150G deletion Pathogenic
3 ITGB4 NM_000213.4(ITGB4): c.4620del (p.Thr1542Hisfs) deletion Pathogenic rs794726676 GRCh37 Chromosome 17, 73751843: 73751843
4 ITGB4 NM_000213.4(ITGB4): c.4620del (p.Thr1542Hisfs) deletion Pathogenic rs794726676 GRCh38 Chromosome 17, 75755762: 75755762
5 ITGB4 NM_000213.4(ITGB4): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs121912461 GRCh37 Chromosome 17, 73723934: 73723934
6 ITGB4 NM_000213.4(ITGB4): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs121912461 GRCh38 Chromosome 17, 75727853: 75727853
7 ITGB4 NM_000213.4(ITGB4): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912462 GRCh37 Chromosome 17, 73732134: 73732134
8 ITGB4 NM_000213.4(ITGB4): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912462 GRCh38 Chromosome 17, 75736053: 75736053
9 ITGB4 NM_000213.3(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Pathogenic rs80338755 GRCh37 Chromosome 17, 73723504: 73723504
10 ITGB4 NM_000213.3(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Pathogenic rs80338755 GRCh38 Chromosome 17, 75727423: 75727423
11 ITGB4 NM_000213.4(ITGB4): c.1684T> C (p.Cys562Arg) single nucleotide variant Pathogenic rs121912463 GRCh37 Chromosome 17, 73732158: 73732158
12 ITGB4 NM_000213.4(ITGB4): c.1684T> C (p.Cys562Arg) single nucleotide variant Pathogenic rs121912463 GRCh38 Chromosome 17, 75736077: 75736077
13 ITGB4 NM_000213.4(ITGB4): c.3793+1G> A single nucleotide variant Pathogenic rs147222357 GRCh37 Chromosome 17, 73747193: 73747193
14 ITGB4 NM_000213.4(ITGB4): c.3793+1G> A single nucleotide variant Pathogenic rs147222357 GRCh38 Chromosome 17, 75751112: 75751112
15 ITGB4 NM_001005619.1(ITGB4): c.4592G> A (p.Trp1531Ter) single nucleotide variant Pathogenic rs121912464 GRCh37 Chromosome 17, 73751866: 73751866
16 ITGB4 NM_001005619.1(ITGB4): c.4592G> A (p.Trp1531Ter) single nucleotide variant Pathogenic rs121912464 GRCh38 Chromosome 17, 75755785: 75755785
17 ITGB4 NM_000213.4(ITGB4): c.112T> C (p.Cys38Arg) single nucleotide variant Pathogenic rs121912465 GRCh37 Chromosome 17, 73723307: 73723307
18 ITGB4 NM_000213.4(ITGB4): c.112T> C (p.Cys38Arg) single nucleotide variant Pathogenic rs121912465 GRCh38 Chromosome 17, 75727227: 75727227
19 ITGB4 ITGB4, IVS31DS, T-A, -19 single nucleotide variant Pathogenic
20 ITGB4 NM_000213.3(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 GRCh37 Chromosome 17, 73748302: 73748302
21 ITGB4 NM_000213.3(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 GRCh38 Chromosome 17, 75752221: 75752221
22 ITGB4 NM_000213.4(ITGB4): c.3674G> A (p.Arg1225His) single nucleotide variant Pathogenic rs121912468 GRCh37 Chromosome 17, 73747073: 73747073
23 ITGB4 NM_000213.4(ITGB4): c.3674G> A (p.Arg1225His) single nucleotide variant Pathogenic rs121912468 GRCh38 Chromosome 17, 75750992: 75750992
24 ITGB4 ITGB4, 2,279-BP DEL deletion Pathogenic
25 ITGA6 ITGA6, 1-BP DEL, 791C deletion Pathogenic
26 PLEC NM_000445.4(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 GRCh37 Chromosome 8, 145004427: 145004427
27 PLEC NM_000445.4(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 GRCh38 Chromosome 8, 143930259: 143930259
28 PLEC NM_000445.4(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 GRCh37 Chromosome 8, 144998014: 144998014
29 PLEC NM_000445.4(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 GRCh38 Chromosome 8, 143923846: 143923846
30 PLEC NM_000445.4(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 GRCh37 Chromosome 8, 144999571: 144999571
31 PLEC NM_000445.4(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 GRCh38 Chromosome 8, 143925403: 143925403
32 PLEC NM_000445.4(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 GRCh37 Chromosome 8, 144998782: 144998782
33 PLEC NM_000445.4(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 GRCh38 Chromosome 8, 143924614: 143924614
34 PLEC NM_000445.4(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 GRCh37 Chromosome 8, 144992923: 144992923
35 PLEC NM_000445.4(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 GRCh38 Chromosome 8, 143918755: 143918755
36 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh38 Chromosome 17, 75742580: 75742580
37 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh37 Chromosome 17, 73738661: 73738661
38 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh38 Chromosome 8, 143933210: 143933210
39 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh37 Chromosome 8, 145007378: 145007378
40 ITGA6 NM_001079818.2(ITGA6): c.3234dupA (p.Gln1079Thrfs) duplication Uncertain significance rs201055917 GRCh37 Chromosome 2, 173368938: 173368938
41 ITGA6 NM_001079818.2(ITGA6): c.3234dupA (p.Gln1079Thrfs) duplication Uncertain significance rs201055917 GRCh38 Chromosome 2, 172504210: 172504210
42 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh37 Chromosome 17, 73753393: 73753393
43 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh38 Chromosome 17, 75757312: 75757312
44 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh37 Chromosome 17, 73750859: 73750859
45 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh38 Chromosome 17, 75754778: 75754778
46 GALK1; ITGB4 NM_001005731.2(ITGB4): c.5126T> C (p.Leu1709Pro) single nucleotide variant Benign rs871443 GRCh38 Chromosome 17, 75757422: 75757422
47 GALK1; ITGB4 NM_001005731.2(ITGB4): c.5126T> C (p.Leu1709Pro) single nucleotide variant Benign rs871443 GRCh37 Chromosome 17, 73753503: 73753503
48 PLEC NM_000445.4(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 GRCh37 Chromosome 8, 144995188: 144995188
49 PLEC NM_000445.4(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 GRCh38 Chromosome 8, 143921020: 143921020
50 PLEC NM_000445.4(PLEC): c.5329C> T (p.Arg1777Trp) single nucleotide variant Uncertain significance rs782410213 GRCh37 Chromosome 8, 144998849: 144998849

Expression for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

Pathways for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 CDKN1B COL17A1 FN1 ITGA6 ITGB2 ITGB4
2
Show member pathways
13.3 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
3
Show member pathways
12.91 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
4
Show member pathways
12.86 CDKN1B FN1 ITGA6 ITGB4 LAMA3 LAMC2
5 12.76 CDKN1B FN1 ITGA6 LAMA3 LAMC2
6
Show member pathways
12.72 ITGA6 ITGB2 ITGB4 LAMA3 LAMC2
7
Show member pathways
12.72 CDKN1B ITGA6 ITGB2 ITGB4 SHC1
8
Show member pathways
12.67 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
9
Show member pathways
12.52 CDKN1B FN1 ITGA6 ITGB2 ITGB4 LAMA3
10 12.51 FN1 ITGA6 ITGB2 ITGB4
11
Show member pathways
12.42 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
12
Show member pathways
12.35 ITGA6 ITGB4 LAMA3 LAMC2 SHC1
13
Show member pathways
12.34 CDKN1B ITGA6 ITGB2 ITGB4
14
Show member pathways
12.16 ITGA6 ITGB2 LAMA3 LAMC2
15
Show member pathways
12.13 CDKN1B ITGA6 ITGB2 ITGB4
16
Show member pathways
12.13 FN1 ITGA6 ITGB2 SHC1
17
Show member pathways
12.1 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
18 12.04 CDKN1B ITGA6 ITGB2 ITGB4
19 11.96 FN1 ITGB4 SHC1
20
Show member pathways
11.93 FN1 ITGB2 LAMA3
21 11.93 ITGA6 ITGB2 ITGB4 PLEC
22
Show member pathways
11.93 COL17A1 DST FN1 ITGA6 ITGB2 ITGB4
23 11.85 ITGA6 ITGB2 ITGB4
24 11.81 FN1 ITGB2 LAMA3 LAMC2
25 11.74 FN1 ITGA6 ITGB2 ITGB4
26 11.69 CDKN1B FN1 ITGA6 LAMA3 LAMC2
27 11.64 CDKN1B FN1 SHC1
28
Show member pathways
11.62 FN1 ITGA6 ITGB2 ITGB4 LAMA3 LAMC2
29 11.57 FN1 LAMA3 LAMC2
30 11.57 CDKN1B ITGA6 ITGB4
31 11.53 ITGA6 ITGB2 ITGB4
32 11.4 ITGA6 ITGB2 ITGB4
33 11.39 FN1 ITGB2 SHC1
34 11.34 FN1 ITGA6 ITGB4
35 11.2 FN1 LAMC2
36 11.2 FN1 LAMA3
37 11.17 FN1 LAMA3
38 11.16 COL17A1 ITGA6 ITGB4 SHC1
40 10.93 FN1 LAMA3
41 10.88 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3

GO Terms for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.77 ACHE COL17A1 DST ITGB4 PLEC
2 focal adhesion GO:0005925 9.65 DST ITGA6 ITGB2 ITGB4 PLEC
3 collagen-containing extracellular matrix GO:0062023 9.62 COL17A1 FN1 LAMA3 LAMC2
4 basement membrane GO:0005604 9.5 ACHE COL17A1 DST FN1 ITGA6 LAMA3
5 integrin complex GO:0008305 9.33 ITGA6 ITGB2 ITGB4
6 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.76 FN1 ITGA6 ITGB2 SHC1
2 cell adhesion GO:0007155 9.76 ACHE DST FN1 ITGA6 ITGB2 ITGB4
3 cell-cell adhesion GO:0098609 9.72 ITGA6 ITGB2 SHC1
4 epidermis development GO:0008544 9.7 COL17A1 LAMA3 LAMC2
5 wound healing GO:0042060 9.69 DST FN1 PLEC
6 integrin-mediated signaling pathway GO:0007229 9.67 DST ITGA6 ITGB2 ITGB4
7 cell-matrix adhesion GO:0007160 9.65 COL17A1 FN1 ITGA6 ITGB2 ITGB4
8 response to wounding GO:0009611 9.62 ACHE DST FN1 ITGB4
9 cell motility GO:0048870 9.58 DST ITGB4
10 endodermal cell differentiation GO:0035987 9.58 FN1 ITGB2 LAMA3
11 intermediate filament cytoskeleton organization GO:0045104 9.57 DST PLEC
12 renal system development GO:0072001 9.56 ITGA6 ITGB4
13 cell adhesion mediated by integrin GO:0033627 9.54 ITGB2 ITGB4
14 extracellular matrix organization GO:0030198 9.5 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
15 amelogenesis GO:0097186 9.49 ITGA6 ITGB4
16 nail development GO:0035878 9.48 ITGA6 ITGB4
17 cell-substrate junction assembly GO:0007044 9.43 FN1 ITGA6
18 hemidesmosome assembly GO:0031581 9.17 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2

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

# Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 9.32 ACHE ITGA6
2 insulin-like growth factor I binding GO:0031994 9.26 ITGA6 ITGB4
3 integrin binding GO:0005178 9.26 DST FN1 ITGB2 ITGB4
4 neuregulin binding GO:0038132 9.16 ITGA6 ITGB4
5 extracellular matrix structural constituent GO:0005201 8.92 COL17A1 FN1 LAMA3 LAMC2

Sources for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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