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 56 12 52 29 6
Junctional Epidermolysis Bullosa with Pyloric Atresia 56 12 52 73 15
Carmi Syndrome 56 12 52 58 73
Jeb-Pa 56 12 52 58
Epidermolysis Bullosa, Junctional, with Pyloric Atresia 56 13 39
Aplasia Cutis Congenita with Gastrointestinal Atresia 56 52 73
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome 12 58
Epidermolysis Bullosa with Pyloric Atresia 52 71
Eb-Pa 73 54
Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita 56
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 56
Epidermolysis Bullosa Letalis, with Pyloric Atresia 73
Junctional Epidermolysis Bullosa - Pyloric Atresia 52
Eb-Pa-Acc 56
Pa-Jeb 73

Characteristics:

Orphanet epidemiological data:

58
junctional epidermolysis bullosa-pyloric atresia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epidermolysis bullosa junctionalis with pyloric atresia:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

OMIM : 56 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 : 73 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 33.6 PLEC ITGB4 ITGA6
2 epidermolysis bullosa simplex with pyloric atresia 31.1 PLEC ITGB4
3 aplasia cutis congenita, nonsyndromic 30.8 PLEC ITGB4
4 linear iga disease 30.1 ITGB4 DST COL17A1
5 pyloric atresia 30.1 PLEC LAMC2 ITGB4 ITGA6-AS1 ITGA6 GALK1
6 epidermolysis bullosa simplex 29.9 PLEC ITGB4 DST COL17A1
7 epidermolysis bullosa, junctional, herlitz type 29.7 LAMC2 LAMB3 LAMA4 LAMA3 COL17A1
8 epidermolysis bullosa 28.5 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
9 junctional epidermolysis bullosa 28.5 PLEC LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
10 skin disease 28.3 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
11 muscular dystrophy 10.6
12 erythrokeratoderma ''en cocardes'' 10.6
13 autosomal recessive disease 10.5
14 polyhydramnios 10.4
15 intestinal obstruction 10.4
16 polycystic kidney disease 10.3
17 pyloric stenosis 10.3
18 kidney disease 10.3
19 autosomal dominant polycystic kidney disease 10.3
20 rare genetic skin disease 10.3
21 gastroesophageal reflux 10.3
22 ureterocele 10.3
23 hydronephrosis 10.3
24 respiratory failure 10.3
25 dilated cardiomyopathy 10.3
26 gastric dilatation 10.3
27 hypotrichosis 10.3
28 alopecia 10.3
29 inherited epidermolysis bullosa 10.3
30 ocular cicatricial pemphigoid 10.2 ITGB4 ITGA6
31 enterocolitis 10.1
32 protein-losing enteropathy 10.1
33 compartment syndrome 10.1
34 peritonitis 10.1
35 vitreous detachment 10.0 LAMA3 FN1
36 neurotic excoriation 10.0 DST COL17A1
37 pemphigoid gestationis 9.9 DST COL17A1
38 blood group, globoside system 9.9 LAMA3 FN1
39 paraneoplastic pemphigus 9.9 DST COL17A1
40 maternal uniparental disomy of chromosome 1 9.8 LAMC2 LAMB3 LAMA3
41 maternal uniparental disomy 9.8 LAMC2 LAMB3 LAMA3
42 lichen planus pemphigoides 9.8 ITGB4 DST COL17A1
43 uniparental disomy of chromosome 1 9.8 LAMC2 LAMB3 LAMA3
44 lichen disease 9.8 DST COL17A1
45 corneal edema 9.8 LAMA3 FN1
46 arrhythmogenic right ventricular cardiomyopathy 9.7 PLEC LAMA4 ITGB4 ITGA6
47 epidermolysis bullosa simplex, dowling-meara type 9.6 PLEC NAT9
48 diffuse idiopathic skeletal hyperostosis 9.6 NAT9 FN1
49 bullous skin disease 9.5 PLEC LAMA3 DST COL17A1
50 pemphigus vulgaris, familial 9.5 DST COL17A1

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:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
3 intestinal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011100
4 oral mucosal blisters 58 31 hallmark (90%) Very frequent (99-80%) HP:0200097
5 congenital pyloric atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004399
6 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
7 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
8 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
9 renal duplication 58 31 frequent (33%) Frequent (79-30%) HP:0000075
10 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
11 ureterocele 58 31 frequent (33%) Frequent (79-30%) HP:0000070
12 renal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000110
13 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
14 aplasia of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0010477
15 urethral stricture 58 31 frequent (33%) Frequent (79-30%) HP:0012227
16 urinary bladder inflammation 58 31 frequent (33%) Frequent (79-30%) HP:0100577
17 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
18 ectropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000656
19 pterygium 58 31 occasional (7.5%) Occasional (29-5%) HP:0001059
20 aplasia cutis congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0001057
21 arthrogryposis multiplex congenita 31 HP:0002804
22 abnormal blistering of the skin 58 Very frequent (99-80%)
23 anonychia 31 HP:0001798
24 nail dysplasia 31 HP:0002164
25 esophageal atresia 31 HP:0002032
26 abnormality of the genitourinary system 31 HP:0000119
27 elevated maternal serum alpha-fetoprotein 31 HP:0005984
28 milia 31 HP:0001056
29 atrophic scars 31 HP:0001075
30 fragile skin 31 HP:0001030
31 intractable diarrhea 31 HP:0002041
32 junctional split 31 HP:0003341
33 axillary pterygium 31 HP:0001060

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 FN1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
2 integument MP:0010771 9.23 FN1 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3

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 29 ITGA6 ITGB4 PLEC

Anatomical Context for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

40
Skin, Kidney, Testes

Publications for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Articles related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 54 56 6
9792864 1998
2
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. 61 56 6
9185503 1997
3
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. 61 56 6
7545057 1995
4
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. 56 6
18348258 2008
5
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 56 6
10484780 1999
6
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. 56 6
9674902 1998
7
Aplasia cutis congenita in two sibs discordant for pyloric atresia. 56 6
6177243 1982
8
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 54 6
11328943 2001
9
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 54 6
9892956 1998
10
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 56
18374450 2008
11
Junctional Epidermolysis Bullosa 6
20301304 2008
12
Epidermolysis Bullosa with Pyloric Atresia 6
20301336 2008
13
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 56
16473856 2006
14
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. 6
11886501 2001
15
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 56
10827412 2000
16
Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. 56
9583744 1998
17
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. 6
9546354 1998
18
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. 56
9358473 1997
19
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography. 56
1279662 1992
20
The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. 56
1497363 1992
21
Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? 56
1499575 1992
22
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. 56
2182874 1990
23
A case of pyloric atresia associated with junctional epidermolysis bullosa. 56
2311625 1990
24
Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings. 56
3572700 1987
25
Aplasia cutis congenita and/or epidermolysis bullosa. 56
3812599 1987
26
Aplasia cutis congenita: a clinical review and proposal for classification. 56
3514708 1986
27
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. 56
3952029 1986
28
Junctional epidermolysis bullosa and pyloric atresia in two siblings. 56
4037846 1985
29
Autosomal-recessive aplasia cutis congenita--report of two affected sibs. 56
6859116 1983
30
Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome. 56
6846272 1983
31
Congenital skin defects and gastrointestinal atresia. 56
6190399 1983
32
Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters. 56
6157584 1980
33
An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia. 56
7359240 1980
34
Letter: Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects. 56
53617 1975
35
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. 61
29380424 2018
36
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
37
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. 61
28557647 2017
38
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. 61
27607025 2017
39
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). 61
27186702 2015
40
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene. 61
21969027 2012
41
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. 61
20596088 2010
42
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 61
18955862 2008
43
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. 61
18779879 2008
44
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. 61
17512702 2007
45
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 54
15654962 2005
46
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. 61
15491419 2004
47
Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. 61
14675179 2003
48
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. 61
14705814 2003
49
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 61
11251584 2001
50
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. 61
10701857 2000

Variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

6 (show top 50) (show all 221) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITGB4 ITGB4, 1-BP INS, 3801Tinsertion Pathogenic 14729
2 ITGB4 ITGB4, 1-BP DEL, 1150Gdeletion Pathogenic 14730
3 ITGB4 NM_000213.5(ITGB4):c.4620del (p.Thr1542fs)deletion Pathogenic 14731 rs794726676 17:73751840-73751840 17:75755759-75755759
4 ITGB4 NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro)SNV Pathogenic 14732 rs121912461 17:73723934-73723934 17:75727853-75727853
5 ITGB4 NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter)SNV Pathogenic 14733 rs121912462 17:73732134-73732134 17:75736053-75736053
6 ITGB4 NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)SNV Pathogenic 14734 rs80338755 17:73723504-73723504 17:75727423-75727423
7 ITGB4 NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg)SNV Pathogenic 14735 rs121912463 17:73732158-73732158 17:75736077-75736077
8 ITGB4 NM_000213.5(ITGB4):c.3793+1G>ASNV Pathogenic 14736 rs147222357 17:73747193-73747193 17:75751112-75751112
9 ITGB4 NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter)SNV Pathogenic 14737 rs121912464 17:73751866-73751866 17:75755785-75755785
10 ITGB4 NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)SNV Pathogenic 14738 rs121912465 17:73723307-73723307 17:75727227-75727227
11 ITGB4 ITGB4, IVS31DS, T-A, -19SNV Pathogenic 14739
12 ITGB4 NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)SNV Pathogenic 14742 rs121912467 17:73748302-73748302 17:75752221-75752221
13 ITGB4 NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)SNV Pathogenic 14743 rs121912468 17:73747073-73747073 17:75750992-75750992
14 ITGB4 ITGB4, 2,279-BP DELdeletion Pathogenic 14744
15 ITGA6 ITGA6, 1-BP DEL, 791Cdeletion Pathogenic 14745
16 PLEC NM_000445.5(PLEC):c.1486C>T (p.Gln496Ter)SNV Pathogenic 208860 rs879255260 8:145007378-145007378 8:143933210-143933210
17 ITGA6 NM_001079818.3(ITGA6):c.3115-2267deldeletion Pathogenic 623184 rs1559159868 2:173366551-173366551 2:172501823-172501823
18 ITGB4 NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)SNV Likely pathogenic 402232 rs772142634 17:73739817-73739817 17:75743736-75743736
19 ITGB4 NM_000213.5(ITGB4):c.2783-2A>GSNV Likely pathogenic 208591 rs758551913 17:73738661-73738661 17:75742580-75742580
20 ITGB4 NM_000213.5(ITGB4):c.5329+2T>CSNV Likely pathogenic 225396 rs762236241 17:73753393-73753393 17:75757312-75757312
21 ITGA6 NM_001079818.3(ITGA6):c.1374A>G (p.Ser458=)SNV Conflicting interpretations of pathogenicity 332361 rs138908657 2:173341227-173341227 2:172476499-172476499
22 ITGA6 NM_001079818.3(ITGA6):c.2109G>A (p.Thr703=)SNV Conflicting interpretations of pathogenicity 332370 rs141344340 2:173352130-173352130 2:172487402-172487402
23 ITGA6 NM_001079818.3(ITGA6):c.1970+12_1970+14deldeletion Conflicting interpretations of pathogenicity 332368 rs532175144 2:173351876-173351878 2:172487148-172487150
24 ITGA6 NM_001079818.3(ITGA6):c.2247C>G (p.Val749=)SNV Conflicting interpretations of pathogenicity 332373 rs61748247 2:173352458-173352458 2:172487730-172487730
25 ITGA6 NM_001079818.3(ITGA6):c.2728G>A (p.Asp910Asn)SNV Conflicting interpretations of pathogenicity 332378 rs61737182 2:173355800-173355800 2:172491072-172491072
26 ITGA6 NM_001079818.3(ITGA6):c.1744A>G (p.Ile582Val)SNV Conflicting interpretations of pathogenicity 332366 rs16860530 2:173349882-173349882 2:172485154-172485154
27 ITGA6 NM_001079818.3(ITGA6):c.3006T>C (p.Phe1002=)SNV Conflicting interpretations of pathogenicity 332387 rs139596061 2:173362720-173362720 2:172497992-172497992
28 ITGA6 NM_001079818.3(ITGA6):c.10G>A (p.Ala4Thr)SNV Conflicting interpretations of pathogenicity 332355 rs201418157 2:173292526-173292526 2:172427798-172427798
29 ITGB4 NM_000213.5(ITGB4):c.1056G>A (p.Ser352=)SNV Conflicting interpretations of pathogenicity 325129 rs187527294 17:73727009-73727009 17:75730928-75730928
30 ITGB4 NM_000213.5(ITGB4):c.1095G>A (p.Arg365=)SNV Conflicting interpretations of pathogenicity 325131 rs141970956 17:73727329-73727329 17:75731248-75731248
31 ITGB4 NM_000213.5(ITGB4):c.1533G>A (p.Pro511=)SNV Conflicting interpretations of pathogenicity 325142 rs148312483 17:73729649-73729649 17:75733568-75733568
32 ITGB4 NM_000213.5(ITGB4):c.2009G>A (p.Arg670His)SNV Conflicting interpretations of pathogenicity 325157 rs149659118 17:73733421-73733421 17:75737340-75737340
33 ITGA6 NM_001079818.3(ITGA6):c.2858G>A (p.Arg953His)SNV Conflicting interpretations of pathogenicity 332383 rs150695902 2:173356028-173356028 2:172491300-172491300
34 ITGB4 NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)SNV Conflicting interpretations of pathogenicity 325186 rs145351926 17:73748322-73748322 17:75752241-75752241
35 ITGB4 NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=)SNV Conflicting interpretations of pathogenicity 325209 rs148658410 17:73753025-73753025 17:75756944-75756944
36 ITGB4 NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln)SNV Conflicting interpretations of pathogenicity 325217 rs80224547 17:73753575-73753575 17:75757494-75757494
37 ITGB4 NM_000213.5(ITGB4):c.708C>T (p.Phe236=)SNV Conflicting interpretations of pathogenicity 325125 rs146923910 17:73725487-73725487 17:75729406-75729406
38 ITGB4 NM_000213.5(ITGB4):c.1667G>A (p.Arg556His)SNV Conflicting interpretations of pathogenicity 325148 rs142562582 17:73732141-73732141 17:75736060-75736060
39 ITGB4 NM_000213.5(ITGB4):c.4559-4C>GSNV Conflicting interpretations of pathogenicity 325195 rs199620842 17:73751778-73751778 17:75755697-75755697
40 ITGB4 NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met)SNV Conflicting interpretations of pathogenicity 325196 rs140575355 17:73751812-73751812 17:75755731-75755731
41 ITGB4 NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg)SNV Conflicting interpretations of pathogenicity 325180 rs75129664 17:73746884-73746884 17:75750803-75750803
42 ITGB4 NM_000213.5(ITGB4):c.1805A>T (p.His602Leu)SNV Conflicting interpretations of pathogenicity 325150 rs201103623 17:73732412-73732412 17:75736331-75736331
43 ITGB4 NM_000213.5(ITGB4):c.1434G>T (p.Gln478His)SNV Conflicting interpretations of pathogenicity 325141 rs8079267 17:73728300-73728300 17:75732219-75732219
44 ITGB4 NM_000213.5(ITGB4):c.2730C>T (p.Ala910=)SNV Conflicting interpretations of pathogenicity 325167 rs61735292 17:73738518-73738518 17:75742437-75742437
45 ITGB4 NM_000213.5(ITGB4):c.2784C>T (p.Asp928=)SNV Conflicting interpretations of pathogenicity 325169 rs201900480 17:73738664-73738664 17:75742583-75742583
46 ITGB4 NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)SNV Conflicting interpretations of pathogenicity 325172 rs145976111 17:73738809-73738809 17:75742728-75742728
47 ITGB4 NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)SNV Conflicting interpretations of pathogenicity 325188 rs61735288 17:73748558-73748558 17:75752477-75752477
48 ITGB4 NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=)SNV Conflicting interpretations of pathogenicity 325215 rs140140182 17:73753291-73753291 17:75757210-75757210
49 ITGB4 NM_000213.5(ITGB4):c.282C>T (p.Thr94=)SNV Conflicting interpretations of pathogenicity 325122 rs146609350 17:73723749-73723749 17:75727668-75727668
50 ITGB4 NM_000213.5(ITGB4):c.1893C>G (p.Ser631=)SNV Conflicting interpretations of pathogenicity 325153 rs61735295 17:73732678-73732678 17:75736597-75736597

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

73 (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

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
2
Show member pathways
13.31 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
3
Show member pathways
12.93 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
4
Show member pathways
12.92 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
5
Show member pathways
12.82 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
6 12.78 LAMC2 LAMB3 LAMA4 LAMA3 ITGA6 FN1
7
Show member pathways
12.73 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
8
Show member pathways
12.65 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
9
Show member pathways
12.48 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6
10
Show member pathways
12.41 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
11
Show member pathways
12.22 LAMC2 LAMB3 LAMA4 LAMA3 ITGA6
12
Show member pathways
12.07 LAMA4 LAMA3 ITGB4 ITGA6 FN1
13
Show member pathways
11.98 PLEC LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
14
Show member pathways
11.89 LAMA4 LAMA3 FN1
15 11.87 PLEC ITGB4 ITGA6
16 11.86 LAMC2 LAMB3 LAMA4 LAMA3 FN1
17 11.7 ITGB4 ITGA6 FN1
18
Show member pathways
11.69 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
19 11.6 LAMC2 LAMB3 LAMA4 LAMA3 ITGA6 FN1
20 11.59 LAMC2 LAMB3 LAMA4 LAMA3 FN1
21 11.4 LAMA4 ITGB4 ITGA6 FN1
22 11.28 LAMA4 FN1
23 11.25 ITGB4 ITGA6 COL17A1
24 11.17 LAMA3 ITGB4
25 11.16 LAMA3 FN1
26 11.15 LAMC2 FN1
27 11.12 LAMA3 FN1
29 10.9 LAMA3 FN1
30 10.87 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6

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 collagen-containing extracellular matrix GO:0062023 9.63 LAMC2 LAMB3 LAMA4 LAMA3 FN1 COL17A1
2 focal adhesion GO:0005925 9.62 PLEC ITGB4 ITGA6 DST
3 basal plasma membrane GO:0009925 9.4 ITGA6 DST
4 integrin complex GO:0008305 9.37 ITGB4 ITGA6
5 hemidesmosome GO:0030056 9.35 PLEC ITGB4 ITGA6 DST COL17A1
6 laminin-5 complex GO:0005610 9.26 LAMB3 LAMA3
7 basement membrane GO:0005604 9.23 LAMC2 LAMB3 LAMA4 LAMA3 ITGA6 FN1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.77 LAMB3 LAMA3 ITGB4
2 cell adhesion GO:0007155 9.76 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
3 animal organ morphogenesis GO:0009887 9.74 LAMC2 LAMB3 LAMA3
4 wound healing GO:0042060 9.72 PLEC FN1 DST
5 response to wounding GO:0009611 9.69 ITGB4 FN1 DST
6 epidermis development GO:0008544 9.67 LAMC2 LAMB3 LAMA3 COL17A1
7 tissue development GO:0009888 9.63 LAMC2 LAMB3 LAMA3
8 integrin-mediated signaling pathway GO:0007229 9.62 LAMA3 ITGB4 ITGA6 DST
9 brown fat cell differentiation GO:0050873 9.61 LAMB3 LAMA4 ITGA6
10 digestive tract development GO:0048565 9.59 ITGB4 ITGA6
11 cell motility GO:0048870 9.58 ITGB4 DST
12 intermediate filament cytoskeleton organization GO:0045104 9.58 PLEC DST
13 endodermal cell differentiation GO:0035987 9.58 LAMB3 LAMA3 FN1
14 regulation of embryonic development GO:0045995 9.56 LAMA4 LAMA3
15 cell-matrix adhesion GO:0007160 9.56 ITGB4 ITGA6 FN1 COL17A1
16 extracellular matrix organization GO:0030198 9.56 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 ITGA6
17 amelogenesis GO:0097186 9.54 ITGB4 ITGA6
18 renal system development GO:0072001 9.52 ITGB4 ITGA6
19 nail development GO:0035878 9.49 ITGB4 ITGA6
20 cell-substrate junction assembly GO:0007044 9.48 ITGA6 FN1
21 hemidesmosome assembly GO:0031581 9.23 PLEC LAMC2 LAMB3 LAMA3 ITGB4 ITGA6

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.35 LAMB3 LAMA3 ITGB4 FN1 DST
2 insulin-like growth factor I binding GO:0031994 9.26 ITGB4 ITGA6
3 neuregulin binding GO:0038132 9.16 ITGB4 ITGA6
4 extracellular matrix structural constituent GO:0005201 9.1 LAMC2 LAMB3 LAMA4 LAMA3 FN1 COL17A1

Sources for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....