MCID: EPD077
MIFTS: 51

Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases, Gastrointestinal 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 75 15
Carmi Syndrome 57 12 53 59 75
Jeb-Pa 57 12 53 59
Epidermolysis Bullosa, Junctional, with Pyloric Atresia 57 13 40
Aplasia Cutis Congenita with Gastrointestinal Atresia 57 53 75
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome 12 59
Epidermolysis Bullosa with Pyloric Atresia 53 73
Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita 57
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 57
Epidermolysis Bullosa Letalis, with Pyloric Atresia 75
Junctional Epidermolysis Bullosa - Pyloric Atresia 53
Eb-Pa-Acc 57
Pa-Jeb 75
Eb-Pa 75

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:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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 junctional epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Junctionalis with Pyloric Atresia is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. Affiliated tissues include skin, testes and kidney, and related phenotypes are nausea and vomiting and abdominal distention

UniProtKB/Swiss-Prot : 75 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.

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.

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 30)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 33.3 ITGA6 ITGB4 PLEC
2 junctional epidermolysis bullosa 30.6 COL17A1 DST ITGA6 ITGB4
3 epidermolysis bullosa 29.9 COL17A1 DST ITGA6 ITGB4 PLEC
4 pyloric atresia 29.5 COL17A1 GALK1 ITGA6 ITGB4 LOC101929947 PLEC
5 epidermolysis bullosa simplex with pyloric atresia 10.5 ITGB4 PLEC
6 kindler syndrome 10.3 DST ITGB4
7 ocular cicatricial pemphigoid 10.2 ITGA6 ITGB4
8 pemphigoid gestationis 10.2 COL17A1 DST
9 neurotic excoriation 10.2 COL17A1 DST
10 kidney disease 10.2
11 autosomal dominant polycystic kidney disease 10.2
12 polycystic kidney disease 10.2
13 herpes gestationis 10.2 COL17A1 DST
14 lichen disease 10.1 COL17A1 DST
15 bullous skin disease 10.0 COL17A1 DST
16 ecthyma 10.0 COL17A1 DST
17 lichen planus pemphigoides 10.0 COL17A1 DST ITGB4
18 linear iga disease 10.0 COL17A1 DST ITGB4
19 epidermolysis bullosa acquisita 9.9 COL17A1 DST ITGB4
20 epidermolysis bullosa simplex with muscular dystrophy 9.8 COL17A1 DST PLEC
21 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST PLEC
22 subcorneal pustular dermatosis 9.8 COL17A1 DST
23 cicatricial pemphigoid 9.6 COL17A1 DST ITGA6 ITGB4
24 aplasia cutis congenita 9.6 ACHE ITGA6 ITGB4
25 paraneoplastic pemphigus 9.6 COL17A1 DST
26 epidermolysis bullosa simplex 9.5 COL17A1 DST ITGB4 PLEC
27 skin disease 9.4 COL17A1 DST ITGB4 PLEC
28 vesiculobullous skin disease 9.2 COL17A1 DST ITGA6 ITGB4 PLEC
29 epidermolysis bullosa, junctional, non-herlitz type 9.2 COL17A1 DST ITGA6 ITGB4 PLEC
30 bullous pemphigoid 9.2 COL17A1 DST ITGA6 ITGB4 PLEC

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

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

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 congenital pyloric atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004399
4 intestinal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011100
5 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
6 ureterocele 59 32 frequent (33%) Frequent (79-30%) HP:0000070
7 renal duplication 59 32 frequent (33%) Frequent (79-30%) HP:0000075
8 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
9 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
10 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
11 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
12 recurrent skin infections 59 32 frequent (33%) Frequent (79-30%) HP:0001581
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 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
18 aplasia cutis congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0001057
19 pterygium 59 32 occasional (7.5%) Occasional (29-5%) HP:0001059
20 nail dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008404
21 abnormal blistering of the skin 59 Very frequent (99-80%)
22 abnormality of the genitourinary system 32 HP:0000119
23 fragile skin 32 HP:0001030
24 milia 32 HP:0001056
25 axillary pterygia 32 HP:0001060
26 atrophic scars 32 HP:0001075
27 anonychia 32 HP:0001798
28 esophageal atresia 32 HP:0002032
29 intractable diarrhea 32 HP:0002041
30 nail dysplasia 32 HP:0002164
31 arthrogryposis multiplex congenita 32 HP:0002804
32 junctional split 32 HP:0003341
33 elevated maternal serum alpha-fetoprotein 32 HP:0005984

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 integument MP:0010771 9.43 CDKN1B ITGA6 ITGB2 ITGB4 PLEC SHC1
2 vision/eye MP:0005391 9.1 ACHE CDKN1B GALK1 ITGA6 ITGB2 ITGB4

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 all 15)
# 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 )
2016
3
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin I^4 gene. ( 21969027 )
2012
4
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. ( 20596088 )
2010
5
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. ( 17512702 )
2007
6
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. ( 15491419 )
2004
7
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. ( 14705814 )
2003
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
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. ( 11251584 )
2001
10
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
11
Junctional epidermolysis bullosa with pyloric atresia: A case with favourable outcome. ( 9822785 )
1998
12
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. ( 9185503 )
1997
13
Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. ( 8832392 )
1996
14
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. ( 7545057 )
1995
15
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 Junctionalis with Pyloric Atresia

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

75 (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
10 ITGB4 p.Arg283Cys VAR_011295
11 ITGB4 p.Val325Asp VAR_011296
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 399)
# 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.4620delG (p.Thr1542Hisfs) deletion Pathogenic rs794726676 GRCh37 Chromosome 17, 73751843: 73751843
4 ITGB4 NM_000213.4(ITGB4): c.4620delG (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_000213.4(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Likely pathogenic rs80338755 GRCh37 Chromosome 17, 73723504: 73723504
10 ITGB4 NM_000213.4(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Likely 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_000213.4(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 GRCh37 Chromosome 17, 73748302: 73748302
21 ITGB4 NM_000213.4(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 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh38 Chromosome 17, 75742580: 75742580
27 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh37 Chromosome 17, 73738661: 73738661
28 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh38 Chromosome 8, 143933210: 143933210
29 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh37 Chromosome 8, 145007378: 145007378
30 ITGA6 NM_001079818.2(ITGA6): c.3234dupA (p.Gln1079Thrfs) duplication Uncertain significance rs201055917 GRCh37 Chromosome 2, 173368938: 173368938
31 ITGA6 NM_001079818.2(ITGA6): c.3234dupA (p.Gln1079Thrfs) duplication Uncertain significance rs201055917 GRCh38 Chromosome 2, 172504210: 172504210
32 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh37 Chromosome 17, 73753393: 73753393
33 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh38 Chromosome 17, 75757312: 75757312
34 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh37 Chromosome 17, 73750859: 73750859
35 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh38 Chromosome 17, 75754778: 75754778
36 GALK1; ITGB4 NM_000213.4(ITGB4): c.5336T> C (p.Leu1779Pro) single nucleotide variant Benign rs871443 GRCh38 Chromosome 17, 75757422: 75757422
37 GALK1; ITGB4 NM_000213.4(ITGB4): c.5336T> C (p.Leu1779Pro) single nucleotide variant Benign rs871443 GRCh37 Chromosome 17, 73753503: 73753503
38 ITGA6 NM_000210.3(ITGA6): c.388-13C> A single nucleotide variant Likely benign rs1574028 GRCh38 Chromosome 2, 172469112: 172469112
39 ITGA6 NM_000210.3(ITGA6): c.388-13C> A single nucleotide variant Likely benign rs1574028 GRCh37 Chromosome 2, 173333840: 173333840
40 ITGA6 NM_000210.3(ITGA6): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs138908657 GRCh38 Chromosome 2, 172476499: 172476499
41 ITGA6 NM_000210.3(ITGA6): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs138908657 GRCh37 Chromosome 2, 173341227: 173341227
42 ITGA6 NM_000210.3(ITGA6): c.1388+8A> T single nucleotide variant Likely benign rs16860507 GRCh38 Chromosome 2, 172476521: 172476521
43 ITGA6 NM_000210.3(ITGA6): c.1388+8A> T single nucleotide variant Likely benign rs16860507 GRCh37 Chromosome 2, 173341249: 173341249
44 ITGA6 NM_000210.3(ITGA6): c.1969A> G (p.Ile657Val) single nucleotide variant Uncertain significance rs368015396 GRCh38 Chromosome 2, 172487137: 172487137
45 ITGA6 NM_000210.3(ITGA6): c.1969A> G (p.Ile657Val) single nucleotide variant Uncertain significance rs368015396 GRCh37 Chromosome 2, 173351865: 173351865
46 ITGA6 NM_000210.3(ITGA6): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs141344340 GRCh38 Chromosome 2, 172487402: 172487402
47 ITGA6 NM_000210.3(ITGA6): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs141344340 GRCh37 Chromosome 2, 173352130: 173352130
48 ITGA6 NM_000210.3(ITGA6): c.2861C> T (p.Ser954Leu) single nucleotide variant Uncertain significance rs565088728 GRCh38 Chromosome 2, 172491303: 172491303
49 ITGA6 NM_000210.3(ITGA6): c.2861C> T (p.Ser954Leu) single nucleotide variant Uncertain significance rs565088728 GRCh37 Chromosome 2, 173356031: 173356031
50 ITGA6 NM_000210.3(ITGA6): c.*204_*205insT insertion Likely benign rs61499296 GRCh37 Chromosome 2, 173369000: 173369001

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 CDKN1B ITGA6 ITGB2 ITGB4 SHC1
2
Show member pathways
12.49 COL17A1 DST ITGA6 ITGB4 PLEC
3
Show member pathways
12.44 CDKN1B ITGA6 ITGB2 ITGB4 SHC1
4
Show member pathways
12.27 COL17A1 DST ITGA6 ITGB4 PLEC
5
Show member pathways
12.18 CDKN1B ITGA6 ITGB2 ITGB4
6
Show member pathways
12.1 ITGA6 ITGB4 SHC1
7
Show member pathways
12.09 COL17A1 DST ITGA6 ITGB2 ITGB4 PLEC
8
Show member pathways
11.99 ITGA6 ITGB2 SHC1
9
Show member pathways
11.89 ITGA6 ITGB2 ITGB4
10 11.86 CDKN1B ITGA6 ITGB2 ITGB4
11
Show member pathways
11.84 ITGA6 ITGB2 ITGB4
12 11.6 ITGA6 ITGB2 ITGB4
13 11.55 ITGA6 ITGB2 ITGB4 PLEC
14 11.39 CDKN1B ITGA6 ITGB4
15 11.38 ITGA6 ITGB2 ITGB4
16 11.29 ITGA6 ITGB2 ITGB4
17 11.23 ITGB2 SHC1
18 11.19 ITGA6 ITGB4
20 10.42 COL17A1 ITGA6 ITGB4 SHC1

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 9.65 ACHE COL17A1 DST ITGB4 PLEC
2 cell surface GO:0009986 9.62 ACHE ITGA6 ITGB2 ITGB4
3 cell leading edge GO:0031252 9.4 DST ITGB4
4 basal plasma membrane GO:0009925 9.37 DST ITGA6
5 basement membrane GO:0005604 9.33 COL17A1 DST ITGA6
6 integrin complex GO:0008305 9.13 ITGA6 ITGB2 ITGB4
7 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC
8 plasma membrane GO:0005886 10.03 ACHE COL17A1 DST ITGA6 ITGB2 ITGB4

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.69 ITGA6 ITGB2 SHC1
2 extracellular matrix organization GO:0030198 9.67 ITGA6 ITGB2 ITGB4
3 cell adhesion GO:0007155 9.65 ACHE DST ITGA6 ITGB2 ITGB4
4 cell-cell adhesion GO:0098609 9.61 ITGA6 ITGB2 SHC1
5 skin development GO:0043588 9.55 ITGA6 ITGB4
6 receptor internalization GO:0031623 9.54 ACHE ITGB2
7 response to wounding GO:0009611 9.54 ACHE DST ITGB4
8 digestive tract development GO:0048565 9.52 ITGA6 ITGB4
9 cell motility GO:0048870 9.48 DST ITGB4
10 renal system development GO:0072001 9.46 ITGA6 ITGB4
11 cell-matrix adhesion GO:0007160 9.46 COL17A1 ITGA6 ITGB2 ITGB4
12 amelogenesis GO:0097186 9.4 ITGA6 ITGB4
13 nail development GO:0035878 9.32 ITGA6 ITGB4
14 integrin-mediated signaling pathway GO:0007229 9.26 DST ITGA6 ITGB2 ITGB4
15 hemidesmosome assembly GO:0031581 8.92 COL17A1 ITGA6 ITGB4 PLEC

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 9.16 ACHE ITGA6
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 Junctionalis with Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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