EB-PA
MCID: EPD077
MIFTS: 54

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 57 12 53 29 6
Junctional Epidermolysis Bullosa with Pyloric Atresia 57 12 53 74 15
Carmi Syndrome 57 12 53 59 74
Jeb-Pa 57 12 53 59
Epidermolysis Bullosa, Junctional, with Pyloric Atresia 57 13 40
Aplasia Cutis Congenita with Gastrointestinal Atresia 57 53 74
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome 12 59
Epidermolysis Bullosa with Pyloric Atresia 53 72
Eb-Pa 74 55
Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita 57
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 57
Epidermolysis Bullosa Letalis, with Pyloric Atresia 74
Junctional Epidermolysis Bullosa - Pyloric Atresia 53
Eb-Pa-Acc 57
Pa-Jeb 74

Characteristics:

Orphanet epidemiological data:

59
junctional epidermolysis bullosa-pyloric atresia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa junctionalis with pyloric atresia:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060733
OMIM 57 226730
MeSH 44 D016109
ICD10 33 Q81.8
ICD10 via Orphanet 34 Q81.8
UMLS via Orphanet 73 C1856934
Orphanet 59 ORPHA79403
MedGen 42 C1856934
UMLS 72 C1856934

Summaries for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

OMIM : 57 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, testes and kidney, 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 : 74 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 50)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 33.9 PLEC ITGB4 ITGA6
2 epidermolysis bullosa simplex with pyloric atresia 31.3 PLEC ITGB4
3 linear iga disease 30.6 ITGB4 DST COL17A1
4 aplasia cutis congenita 30.4 ITGB4 ITGA6 ACHE
5 junctional epidermolysis bullosa 30.4 LAMC2 LAMA3 ITGB4 ITGA6 DST COL17A1
6 pyloric atresia 30.3 PLEC LAMC2 ITGB4 ITGA6-AS1 ITGA6 GALK1
7 epidermolysis bullosa simplex 30.3 PLEC ITGB4 DST COL17A1
8 epidermolysis bullosa 30.1 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST
9 epidermolysis bullosa, junctional, herlitz type 29.6 LAMC2 LAMA3 AFP ACHE
10 skin disease 29.3 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST
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 maternal uniparental disomy of chromosome 1 10.3 LAMC2 LAMA3
22 gastroesophageal reflux 10.3
23 ureterocele 10.3
24 hydronephrosis 10.3
25 respiratory failure 10.3
26 dilated cardiomyopathy 10.3
27 gastric dilatation 10.3
28 hypotrichosis 10.3
29 alopecia 10.3
30 inherited epidermolysis bullosa 10.3
31 pemphigoid gestationis 10.2 DST COL17A1
32 neurotic excoriation 10.2 DST COL17A1
33 lichen planus pemphigoides 10.2 ITGB4 DST COL17A1
34 bullous skin disease 10.1 LAMA3 DST COL17A1
35 lichen disease 10.1 DST COL17A1
36 epidermolysis bullosa simplex with muscular dystrophy 10.1 PLEC DST COL17A1
37 enterocolitis 10.1
38 protein-losing enteropathy 10.1
39 compartment syndrome 10.1
40 peritonitis 10.1
41 kindler syndrome 10.1 ITGB4 DST
42 cellulitis 10.0 LAMA3 DST COL17A1
43 epithelial basement membrane dystrophy 9.9 PLEC COL17A1
44 epidermolysis bullosa acquisita 9.9 LAMA3 ITGB4 DST COL17A1
45 autoimmune disease of skin and connective tissue 9.8 PLEC LAMA3 DST COL17A1
46 nephrotic syndrome, type 1 9.5 AFP ACHE
47 cicatricial pemphigoid 9.4 LAMC2 LAMA3 ITGB4 ITGA6 DST COL17A1
48 vesiculobullous skin disease 9.1 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST
49 epidermolysis bullosa, junctional, non-herlitz type 9.1 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST
50 bullous pemphigoid 9.1 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
2 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
3 intestinal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011100
4 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
5 congenital pyloric atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004399
6 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
7 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
8 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
9 renal duplication 59 32 frequent (33%) Frequent (79-30%) HP:0000075
10 recurrent skin infections 59 32 frequent (33%) Frequent (79-30%) HP:0001581
11 ureterocele 59 32 frequent (33%) Frequent (79-30%) HP:0000070
12 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
13 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
14 aplasia of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0010477
15 urethral stricture 59 32 frequent (33%) Frequent (79-30%) HP:0012227
16 urinary bladder inflammation 59 32 frequent (33%) Frequent (79-30%) HP:0100577
17 nail dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008404
18 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
19 pterygium 59 32 occasional (7.5%) Occasional (29-5%) HP:0001059
20 aplasia cutis congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0001057
21 abnormal blistering of the skin 59 Very frequent (99-80%)
22 arthrogryposis multiplex congenita 32 HP:0002804
23 anonychia 32 HP:0001798
24 nail dysplasia 32 HP:0002164
25 esophageal atresia 32 HP:0002032
26 abnormality of the genitourinary system 32 HP:0000119
27 elevated maternal serum alpha-fetoprotein 32 HP:0005984
28 milia 32 HP:0001056
29 atrophic scars 32 HP:0001075
30 fragile skin 32 HP:0001030
31 intractable diarrhea 32 HP:0002041
32 junctional split 32 HP:0003341
33 axillary pterygium 32 HP:0001060

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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:

46
# 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 29 ITGA6 ITGB4 PLEC

Anatomical Context for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

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

41
Skin, Testes, Kidney

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. 9 8 71
9792864 1998
2
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. 38 8 71
9185503 1997
3
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. 38 8 71
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. 8 71
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. 8 71
10484780 1999
6
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. 8 71
9674902 1998
7
Aplasia cutis congenita in two sibs discordant for pyloric atresia. 8 71
6177243 1982
8
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 9 71
11328943 2001
9
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9 71
9892956 1998
10
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 8
18374450 2008
11
Junctional Epidermolysis Bullosa 71
20301304 2008
12
Epidermolysis Bullosa with Pyloric Atresia 71
20301336 2008
13
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 8
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. 71
11886501 2001
15
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 8
10827412 2000
16
Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. 8
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. 71
9546354 1998
18
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. 8
9358473 1997
19
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography. 8
1279662 1992
20
The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. 8
1497363 1992
21
Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? 8
1499575 1992
22
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. 8
2182874 1990
23
A case of pyloric atresia associated with junctional epidermolysis bullosa. 8
2311625 1990
24
Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings. 8
3572700 1987
25
Aplasia cutis congenita and/or epidermolysis bullosa. 8
3812599 1987
26
Aplasia cutis congenita: a clinical review and proposal for classification. 8
3514708 1986
27
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. 8
3952029 1986
28
Junctional epidermolysis bullosa and pyloric atresia in two siblings. 8
4037846 1985
29
Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome. 8
6846272 1983
30
Autosomal-recessive aplasia cutis congenita--report of two affected sibs. 8
6859116 1983
31
Congenital skin defects and gastrointestinal atresia. 8
6190399 1983
32
Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters. 8
6157584 1980
33
An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia. 8
7359240 1980
34
Letter: Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects. 8
53617 1975
35
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. 38
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. 38
29777447 2018
37
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. 38
28557647 2017
38
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. 38
27607025 2017
39
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). 38
27186702 2015
40
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene. 38
21969027 2012
41
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. 38
20596088 2010
42
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 38
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. 38
18779879 2008
44
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. 38
17512702 2007
45
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 9
15654962 2005
46
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. 38
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. 38
14675179 2003
48
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. 38
14705814 2003
49
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 38
11251584 2001
50
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. 38
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 220)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ITGB4 ITGB4, 1-BP INS, 3801T insertion Pathogenic
2 ITGB4 ITGB4, 1-BP DEL, 1150G deletion Pathogenic
3 ITGB4 NM_000213.5(ITGB4): c.4620del (p.Thr1542fs) deletion Pathogenic rs794726676 17:73751843-73751843 17:75755762-75755762
4 ITGB4 NM_000213.5(ITGB4): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs121912461 17:73723934-73723934 17:75727853-75727853
5 ITGB4 NM_000213.5(ITGB4): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912462 17:73732134-73732134 17:75736053-75736053
6 ITGB4 NM_000213.5(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Pathogenic rs80338755 17:73723504-73723504 17:75727423-75727423
7 ITGB4 NM_000213.5(ITGB4): c.1684T> C (p.Cys562Arg) single nucleotide variant Pathogenic rs121912463 17:73732158-73732158 17:75736077-75736077
8 ITGB4 NM_000213.5(ITGB4): c.3793+1G> A single nucleotide variant Pathogenic rs147222357 17:73747193-73747193 17:75751112-75751112
9 ITGB4 NM_000213.5(ITGB4): c.4643G> A (p.Trp1548Ter) single nucleotide variant Pathogenic rs121912464 17:73751866-73751866 17:75755785-75755785
10 ITGB4 NM_000213.5(ITGB4): c.112T> C (p.Cys38Arg) single nucleotide variant Pathogenic rs121912465 17:73723307-73723307 17:75727227-75727227
11 ITGB4 ITGB4, IVS31DS, T-A, -19 single nucleotide variant Pathogenic
12 ITGB4 NM_000213.5(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 17:73748302-73748302 17:75752221-75752221
13 ITGB4 NM_000213.5(ITGB4): c.3674G> A (p.Arg1225His) single nucleotide variant Pathogenic rs121912468 17:73747073-73747073 17:75750992-75750992
14 ITGB4 ITGB4, 2,279-BP DEL deletion Pathogenic
15 ITGA6 ITGA6, 1-BP DEL, 791C deletion Pathogenic
16 PLEC NM_000445.5(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 8:145007378-145007378 8:143933210-143933210
17 ITGA6 NM_001079818.3(ITGA6): c.3115-2267del deletion Pathogenic 2:173366552-173366552 2:172501824-172501824
18 ITGB4 NM_000213.5(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 17:73753393-73753393 17:75757312-75757312
19 ITGB4 NM_000213.5(ITGB4): c.2986C> T (p.Gln996Ter) single nucleotide variant Likely pathogenic rs772142634 17:73739817-73739817 17:75743736-75743736
20 ITGB4 NM_000213.5(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 17:73738661-73738661 17:75742580-75742580
21 ITGB4 NM_000213.5(ITGB4): c.4008C> T (p.Asp1336=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735288 17:73748558-73748558 17:75752477-75752477
22 ITGB4 NM_000213.5(ITGB4): c.3861C> T (p.Asn1287=) single nucleotide variant Conflicting interpretations of pathogenicity rs145351926 17:73748322-73748322 17:75752241-75752241
23 ITGB4 NM_000213.5(ITGB4): c.3809T> C (p.Met1270Thr) single nucleotide variant Uncertain significance rs886053413 17:73748270-73748270 17:75752189-75752189
24 ITGB4 NM_000213.5(ITGB4): c.2962+14G> A single nucleotide variant Uncertain significance rs369351466 17:73738856-73738856 17:75742775-75742775
25 ITGB4 NM_000213.5(ITGB4): c.2782+10C> T single nucleotide variant Uncertain significance rs757546708 17:73738580-73738580 17:75742499-75742499
26 ITGB4 NM_000213.5(ITGB4): c.2674C> T (p.Arg892Cys) single nucleotide variant Uncertain significance rs139933962 17:73738462-73738462 17:75742381-75742381
27 ITGB4 NM_000213.5(ITGB4): c.2503C> G (p.Pro835Ala) single nucleotide variant Uncertain significance rs183705877 17:73736495-73736495 17:75740414-75740414
28 ITGB4 NM_000213.5(ITGB4): c.2422G> A (p.Ala808Thr) single nucleotide variant Uncertain significance rs147480547 17:73736128-73736128 17:75740047-75740047
29 ITGB4 NM_000213.5(ITGB4): c.2025C> T (p.Asp675=) single nucleotide variant Uncertain significance rs202097958 17:73733437-73733437 17:75737356-75737356
30 ITGB4 NM_000213.5(ITGB4): c.2009G> A (p.Arg670His) single nucleotide variant Uncertain significance rs149659118 17:73733421-73733421 17:75737340-75737340
31 ITGB4 NM_000213.5(ITGB4): c.1972G> T (p.Val658Leu) single nucleotide variant Uncertain significance rs747235341 17:73732757-73732757 17:75736676-75736676
32 ITGB4 NM_000213.5(ITGB4): c.1945G> A (p.Glu649Lys) single nucleotide variant Uncertain significance rs886053411 17:73732730-73732730 17:75736649-75736649
33 ITGB4 NM_000213.5(ITGB4): c.1860+10A> C single nucleotide variant Uncertain significance rs8065184 17:73732477-73732477 17:75736396-75736396
34 ITGB4 NM_000213.5(ITGB4): c.1666C> T (p.Arg556Cys) single nucleotide variant Uncertain significance rs150166497 17:73732140-73732140 17:75736059-75736059
35 ITGB4 NM_000213.5(ITGB4): c.1581C> T (p.Gly527=) single nucleotide variant Uncertain significance rs374868983 17:73729697-73729697 17:75733616-75733616
36 ITGB4 NM_000213.5(ITGB4): c.1533G> A (p.Pro511=) single nucleotide variant Uncertain significance rs148312483 17:73729649-73729649 17:75733568-75733568
37 ITGB4 NM_000213.5(ITGB4): c.1413C> T (p.Asn471=) single nucleotide variant Uncertain significance rs375790655 17:73728279-73728279 17:75732198-75732198
38 ITGB4 NM_000213.5(ITGB4): c.1262C> T (p.Thr421Met) single nucleotide variant Uncertain significance rs148535298 17:73727939-73727939 17:75731858-75731858
39 ITGB4 NM_000213.5(ITGB4): c.1181G> A (p.Arg394Lys) single nucleotide variant Uncertain significance rs144655991 17:73727415-73727415 17:75731334-75731334
40 ITGB4 NM_000213.5(ITGB4): c.1095G> A (p.Arg365=) single nucleotide variant Uncertain significance rs141970956 17:73727329-73727329 17:75731248-75731248
41 ITGB4 NM_000213.5(ITGB4): c.1056G> A (p.Ser352=) single nucleotide variant Uncertain significance rs187527294 17:73727009-73727009 17:75730928-75730928
42 ITGB4 NM_000213.5(ITGB4): c.-23T> C single nucleotide variant Uncertain significance rs886053407 17:73717680-73717680 17:75721600-75721600
43 ITGB4 NM_000213.5(ITGB4): c.-68C> T single nucleotide variant Uncertain significance rs571564589 17:73717635-73717635 17:75721555-75721555
44 ITGB4 NM_000213.5(ITGB4): c.-125G> C single nucleotide variant Uncertain significance rs552008042 17:73717578-73717578 17:75721498-75721498
45 ITGA6 NM_001079818.3(ITGA6): c.*1904T> G single nucleotide variant Uncertain significance rs114786166 2:173370884-173370884 2:172506156-172506156
46 ITGA6 NM_001079818.3(ITGA6): c.258C> A (p.Cys86Ter) single nucleotide variant Uncertain significance 2:173330342-173330342 2:172465614-172465614
47 ITGA6 NM_001079818.3(ITGA6): c.2926C> T (p.Arg976Ter) single nucleotide variant Uncertain significance 2:173356189-173356189 2:172491461-172491461
48 ITGB4 NM_000213.5(ITGB4): c.2550+1G> A single nucleotide variant Uncertain significance 17:73736543-73736543 17:75740462-75740462
49 ITGB4 NM_001005731.2(ITGB4): c.4498+2_4498+5del deletion Uncertain significance 17:73751931-73751935 17:75755852-75755855
50 ITGB4 NM_000213.5(ITGB4): c.*45C> T single nucleotide variant Uncertain significance rs200901360 17:73753681-73753681 17:75757600-75757600

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

74 (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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6 FN1
2
Show member pathways
13.3 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6 FN1
3
Show member pathways
12.93 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6 FN1
4
Show member pathways
12.87 LAMC2 LAMA3 ITGB4 ITGA6 FN1 CDKN1B
5 12.76 LAMC2 LAMA3 ITGA6 FN1 CDKN1B
6
Show member pathways
12.72 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6
7
Show member pathways
12.72 SHC1 ITGB4 ITGB2 ITGA6 CDKN1B
8
Show member pathways
12.67 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST
9 12.52 ITGB4 ITGB2 ITGA6 FN1
10
Show member pathways
12.52 SHC1 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6
11
Show member pathways
12.42 PLEC LAMC2 LAMA3 ITGB4 ITGA6 DST
12
Show member pathways
12.37 SHC1 LAMC2 LAMA3 ITGB4 ITGA6
13
Show member pathways
12.17 LAMC2 LAMA3 ITGB2 ITGA6
14
Show member pathways
12.14 SHC1 ITGB2 ITGA6 FN1
15
Show member pathways
12.13 ITGB4 ITGB2 ITGA6 CDKN1B
16
Show member pathways
12.13 ITGB4 ITGB2 ITGA6 CDKN1B
17
Show member pathways
12.1 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6 FN1
18 12.05 ITGB4 ITGB2 ITGA6 CDKN1B
19
Show member pathways
12.03 LAMA3 ITGB4 ITGB2 ITGA6 FN1
20 11.96 SHC1 ITGB4 FN1
21 11.94 PLEC ITGB4 ITGB2 ITGA6
22
Show member pathways
11.93 LAMA3 ITGB2 FN1
23
Show member pathways
11.93 PLEC LAMC2 LAMA3 ITGB4 ITGB2 ITGA6
24 11.85 ITGB4 ITGB2 ITGA6
25 11.85 LAMC2 LAMA3 ITGB2 FN1
26 11.75 ITGB4 ITGB2 ITGA6 FN1
27 11.68 LAMC2 LAMA3 ITGA6 FN1 CDKN1B
28 11.64 SHC1 FN1 CDKN1B
29
Show member pathways
11.63 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6 FN1
30 11.58 ITGB4 ITGA6 CDKN1B
31 11.57 LAMC2 LAMA3 FN1
32 11.53 ITGB4 ITGB2 ITGA6
33 11.4 ITGB4 ITGB2 ITGA6
34 11.4 SHC1 ITGB2 FN1
35 11.35 ITGB4 ITGA6 FN1
36 11.21 LAMA3 FN1
37 11.2 LAMC2 FN1
38 11.17 LAMA3 FN1
39 11.16 SHC1 ITGB4 ITGA6 COL17A1
41 10.94 LAMA3 FN1
42 10.88 LAMC2 LAMA3 ITGB4 ITGB2 ITGA6 FN1

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 PLEC ITGB4 DST COL17A1 ACHE
2 focal adhesion GO:0005925 9.65 PLEC ITGB4 ITGB2 ITGA6 DST
3 collagen-containing extracellular matrix GO:0062023 9.62 LAMC2 LAMA3 FN1 COL17A1
4 basement membrane GO:0005604 9.5 LAMC2 LAMA3 ITGA6 FN1 DST COL17A1
5 integrin complex GO:0008305 9.33 ITGB4 ITGB2 ITGA6
6 hemidesmosome GO:0030056 9.02 PLEC ITGB4 ITGA6 DST COL17A1

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

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 ITGA6 ACHE
2 insulin-like growth factor I binding GO:0031994 9.26 ITGB4 ITGA6
3 integrin binding GO:0005178 9.26 ITGB4 ITGB2 FN1 DST
4 neuregulin binding GO:0038132 9.16 ITGB4 ITGA6
5 extracellular matrix structural constituent GO:0005201 8.92 LAMC2 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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