MCID: EPD045
MIFTS: 47

Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

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

Aliases & Classifications for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

MalaCards integrated aliases for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis:

Name: Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 54
Junctional Epidermolysis Bullosa with Pyloric Atresia 12 50 71 14
Carmi Syndrome 12 50 56 71
Epidermolysis Bullosa Junctionalis with Pyloric Atresia 12 50 29
Jeb-Pa 12 50 56
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome 12 56
Epidermolysis Bullosa, Junctional, with Pyloric Atresia 54 13
Aplasia Cutis Congenita with Gastrointestinal Atresia 50 71
Epidermolysis Bullosa with Pyloric Atresia 50 69
Epidermolysis Bullosa Letalis, with Pyloric Atresia 71
Junctional Epidermolysis Bullosa - Pyloric Atresia 50
Pa-Jeb 71
Eb-Pa 71

Characteristics:

Orphanet epidemiological data:

56
junctional epidermolysis bullosa-pyloric atresia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa, junctional, with pyloric stenosis:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

OMIM : 54
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, Junctional, with Pyloric Stenosis, also known as junctional epidermolysis bullosa with pyloric atresia, is related to epidermolysis bullosa with pyloric atresia and epidermolysis bullosa, and has symptoms including polyhydramnios, hydronephrosis and renal dysplasia. An important gene associated with Epidermolysis Bullosa, Junctional, with Pyloric Stenosis is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include skin, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and cardiovascular system

UniProtKB/Swiss-Prot : 71 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, Junctional, with Pyloric Stenosis

Diseases related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 11.9
2 epidermolysis bullosa 10.7
3 junctional epidermolysis bullosa 10.7
4 muscular dystrophy, limb-girdle, type 2q 10.4 ITGB4 PLEC
5 spinocerebellar ataxia 23 10.3 DST ITGB4
6 penis agenesis 10.2 COL17A1 DST
7 rectum carcinoma in situ 10.2 COL17A1 DST
8 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.2 ITGA6 ITGB4 PLEC
9 acute vascular insufficiency of intestine 10.1 COL17A1 DST
10 kidney disease 10.1
11 autosomal dominant polycystic kidney disease 10.1
12 polycystic kidney disease 10.1
13 dermatitis herpetiformis 10.1 COL17A1 DST
14 ligneous conjunctivitis 10.0 COL17A1 DST ITGB4
15 peripheral nervous system neoplasm 10.0 COL17A1 DST
16 classic hairy cell leukemia 10.0 COL17A1 DST
17 lip and oral cavity cancer 10.0 COL17A1 DST ITGB4
18 pilar sheath acanthoma 10.0 COL17A1 DST ITGB4
19 nephrosclerosis 10.0 COL17A1 DST ITGB4
20 autism spectrum disorder 9.9 COL17A1 DST PLEC
21 epidermolysis bullosa simplex, ogna type 9.9 COL17A1 DST PLEC
22 acute pulmonary heart disease 9.9 COL17A1 DST
23 epidermolysis bullosa simplex superficialis 9.9 ITGA6 ITGB4
24 ureteral lymphoma 9.9 COL17A1 DST PLEC
25 small non-cleaved cell lymphoma 9.8 COL17A1 DST ITGB4
26 aplasia cutis congenita recessive 9.8 ACHE ITGA6 ITGB4
27 jejunal somatostatinoma 9.7 COL17A1 DST ITGA6 ITGB4
28 bilateral retinoblastoma 9.6 COL17A1 DST ITGB4 PLEC
29 bilirubin metabolic disorder 9.3 COL17A1 DST ITGA6 ITGB4 PLEC
30 epidermolysis bullosa, junctional, non-herlitz type 9.3 COL17A1 DST ITGA6 ITGB4 PLEC
31 bartholin's duct cyst 9.3 COL17A1 DST ITGA6 ITGB4 PLEC
32 gilbert syndrome 9.3 COL17A1 DST ITGA6 ITGB4 PLEC
33 nemaline myopathy 9 6.8 ACHE CDKN1B COL17A1 DST ITGA6 ITGB2

Graphical network of the top 20 diseases related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis:



Diseases related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Symptoms & Phenotypes for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
joint contractures

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

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

Skin Nails & Hair- Nails:
dystrophic nails
absent nails

Head And Neck- Teeth:
enamel hypoplasia

Abdomen- Gastroin testinal:
esophageal atresia
esophageal lesions
pyloric atresia

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, Junctional, with Pyloric Stenosis:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 56 32 frequent (33%) Frequent (79-30%) HP:0001561
2 hydronephrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000126
3 renal dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000110
4 intestinal atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011100
5 recurrent skin infections 56 32 frequent (33%) Frequent (79-30%) HP:0001581
6 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
7 ectropion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000656
8 nail dystrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008404
9 renal duplication 56 32 frequent (33%) Frequent (79-30%) HP:0000075
10 ureterocele 56 32 frequent (33%) Frequent (79-30%) HP:0000070
11 aplasia cutis congenita 56 32 occasional (7.5%) Occasional (29-5%) HP:0001057
12 urethral stricture 56 32 frequent (33%) Frequent (79-30%) HP:0012227
13 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
14 pterygium 56 32 occasional (7.5%) Occasional (29-5%) HP:0001059
15 hypoplasia of dental enamel 56 32 frequent (33%) Frequent (79-30%) HP:0006297
16 oral mucosal blisters 56 32 hallmark (90%) Very frequent (99-80%) HP:0200097
17 aplasia of the bladder 56 32 frequent (33%) Frequent (79-30%) HP:0010477
18 congenital pyloric atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004399
19 arthrogryposis multiplex congenita 32 HP:0002804
20 milia 32 HP:0001056
21 esophageal atresia 32 HP:0002032
22 fragile skin 32 HP:0001030
23 anonychia 32 HP:0001798
24 nail dysplasia 32 HP:0002164
25 atrophic scars 32 HP:0001075
26 elevated maternal serum alpha-fetoprotein 32 HP:0005984
27 axillary pterygia 32 HP:0001060
28 abnormal blistering of the skin 56 Very frequent (99-80%)
29 abnormality of the genitourinary system 32 HP:0000119
30 intractable diarrhea 32 HP:0002041
31 junctional split 32 HP:0003341

GenomeRNAi Phenotypes related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 ITGA6 ITGB4 PLEC SHC1

MGI Mouse Phenotypes related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CDKN1B ITGA6 ITGB2 ITGB4 PLEC SHC1
2 hearing/vestibular/ear MP:0005377 9.46 ACHE CDKN1B ITGA6 ITGB4
3 integument MP:0010771 9.43 CDKN1B ITGA6 ITGB2 ITGB4 PLEC SHC1
4 vision/eye MP:0005391 9.02 ITGB2 ITGB4 ACHE CDKN1B ITGA6

Drugs & Therapeutics for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Genetic Tests for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Genetic tests related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 29

Anatomical Context for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

MalaCards organs/tissues related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis:

39
Skin

Publications for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Variations for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis:

71 (show all 13)
id 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, Junctional, with Pyloric Stenosis:

6 (show all 19)
id 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.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs121912461 GRCh37 Chromosome 17, 73723934: 73723934
5 ITGB4 NM_000213.4(ITGB4): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912462 GRCh37 Chromosome 17, 73732134: 73732134
6 ITGB4 NM_000213.4(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs80338755 GRCh37 Chromosome 17, 73723504: 73723504
7 ITGB4 NM_000213.4(ITGB4): c.1684T> C (p.Cys562Arg) single nucleotide variant Pathogenic rs121912463 GRCh37 Chromosome 17, 73732158: 73732158
8 ITGB4 NM_000213.4(ITGB4): c.3793+1G> A single nucleotide variant Pathogenic rs147222357 GRCh37 Chromosome 17, 73747193: 73747193
9 ITGB4 NM_001005619.1(ITGB4): c.4592G> A (p.Trp1531Ter) single nucleotide variant Pathogenic rs121912464 GRCh37 Chromosome 17, 73751866: 73751866
10 ITGB4 NM_000213.4(ITGB4): c.112T> C (p.Cys38Arg) single nucleotide variant Pathogenic rs121912465 GRCh37 Chromosome 17, 73723307: 73723307
11 ITGB4 ITGB4, IVS31DS, T-A, -19 single nucleotide variant Pathogenic
12 ITGB4 NM_000213.4(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 GRCh37 Chromosome 17, 73748302: 73748302
13 ITGB4 NM_000213.4(ITGB4): c.3674G> A (p.Arg1225His) single nucleotide variant Pathogenic rs121912468 GRCh37 Chromosome 17, 73747073: 73747073
14 ITGB4 ITGB4, 2,279-BP DEL deletion Pathogenic
15 ITGA6 ITGA6, 1-BP DEL, 791C deletion Pathogenic
16 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh38 Chromosome 17, 75742580: 75742580
17 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh38 Chromosome 8, 143933210: 143933210
18 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh37 Chromosome 17, 73753393: 73753393
19 ITGB4 NM_000213.4(ITGB4): c.2986C> T (p.Gln996Ter) single nucleotide variant Likely pathogenic rs772142634 GRCh37 Chromosome 17, 73739817: 73739817

Expression for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Search GEO for disease gene expression data for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis.

Pathways for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Pathways related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis according to GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 COL17A1 ITGA6 ITGB2 ITGB4
2
Show member pathways
12.57 CDKN1B ITGA6 ITGB2 ITGB4 SHC1
3
Show member pathways
12.49 COL17A1 DST ITGA6 ITGB4 PLEC
4
Show member pathways
12.44 CDKN1B ITGA6 ITGB2 ITGB4 SHC1
5
Show member pathways
12.27 COL17A1 DST ITGA6 ITGB4 PLEC
6
Show member pathways
12.16 CDKN1B ITGA6 ITGB2 ITGB4
7
Show member pathways
12.09 ITGA6 ITGB4 SHC1
8
Show member pathways
12.09 COL17A1 DST ITGA6 ITGB2 ITGB4 PLEC
9
Show member pathways
11.99 ITGA6 ITGB2 SHC1
10
Show member pathways
11.99 CDKN1B ITGA6 ITGB2 ITGB4
11
Show member pathways
11.92 ITGA6 ITGB2 ITGB4
12
Show member pathways
11.89 ITGA6 ITGB2 ITGB4
13 11.7 ITGA6 ITGB2 ITGB4
14 11.6 ITGA6 ITGB2 ITGB4
15 11.5 ITGA6 ITGB2 ITGB4 PLEC
16 11.46 ITGA6 ITGB2 ITGB4
17 11.39 CDKN1B ITGA6 ITGB4
18 11.23 ITGB2 SHC1
19 11.18 ITGA6 ITGB4
21 10.42 COL17A1 ITGA6 ITGB4 SHC1

GO Terms for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

Cellular components related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.92 ACHE COL17A1 DST ITGA6 ITGB2 ITGB4
2 cell surface GO:0009986 9.67 ACHE ITGA6 ITGB2 ITGB4
3 cell junction GO:0030054 9.55 ACHE COL17A1 DST ITGB4 PLEC
4 cell leading edge GO:0031252 9.43 DST ITGB4
5 basement membrane GO:0005604 9.43 COL17A1 DST ITGA6
6 basal plasma membrane GO:0009925 9.4 DST ITGA6
7 integrin complex GO:0008305 9.13 ITGA6 ITGB2 ITGB4
8 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC

Biological processes related to Epidermolysis Bullosa, Junctional, with Pyloric Stenosis according to GeneCards Suite gene sharing:

(show all 15)
id 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 single organismal cell-cell adhesion GO:0016337 9.61 ITGA6 ITGB2 SHC1
5 skin development GO:0043588 9.55 ITGA6 ITGB4
6 receptor internalization GO:0031623 9.54 ACHE ITGB2
7 digestive tract development GO:0048565 9.52 ITGA6 ITGB4
8 response to wounding GO:0009611 9.5 ACHE DST 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 9.37 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, Junctional, with Pyloric Stenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 ACHE CDKN1B COL17A1 DST ITGA6 ITGB2
2 protein complex binding GO:0032403 9.43 CDKN1B ITGA6 ITGB2
3 laminin binding GO:0043236 9.16 ACHE ITGA6
4 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
5 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Epidermolysis Bullosa, Junctional, with Pyloric Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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