EBS-PA
MCID: EPD040
MIFTS: 32

Epidermolysis Bullosa Simplex with Pyloric Atresia (EBS-PA)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Pyloric Atresia

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Pyloric Atresia:

Name: Epidermolysis Bullosa Simplex with Pyloric Atresia 58 60 76 30 13 6 74
Ebs-Pa 60 76
Epidermolysis Bullosa Simplex, with Pyloric Atresia 41
Ebs with Pyloric Atresia 58
Ebspa 58

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex with pyloric atresia
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epidermolysis bullosa simplex with pyloric atresia:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Epidermolysis Bullosa Simplex with Pyloric Atresia

OMIM : 58 EBSPA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, 4,3:Fine et al. (2000, 2008) considered EBSPA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes. (612138)

MalaCards based summary : Epidermolysis Bullosa Simplex with Pyloric Atresia, also known as ebs-pa, is related to epidermolysis bullosa with pyloric atresia and epidermolysis bullosa junctionalis with pyloric atresia. An important gene associated with Epidermolysis Bullosa Simplex with Pyloric Atresia is PLEC (Plectin), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include skin and eye, and related phenotypes are polyhydramnios and premature birth

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa simplex with pyloric atresia: Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.

Related Diseases for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 32.9 ITGB4 PLEC
2 epidermolysis bullosa junctionalis with pyloric atresia 32.6 ITGB4 PLEC
3 epidermolysis bullosa 9.8 ITGB4 PLEC
4 pyloric atresia 9.8 ITGB4 PLEC
5 epidermolysis bullosa simplex 9.8 ITGB4 PLEC
6 vesiculobullous skin disease 9.7 ITGB4 PLEC
7 skin disease 9.7 ITGB4 PLEC
8 epidermolysis bullosa, junctional, non-herlitz type 9.6 ITGB4 PLEC
9 bullous pemphigoid 9.5 ITGB4 PLEC

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



Diseases related to Epidermolysis Bullosa Simplex with Pyloric Atresia

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Pyloric Atresia

Human phenotypes related to Epidermolysis Bullosa Simplex with Pyloric Atresia:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
2 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
3 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
4 aplasia cutis congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0001057
5 abnormality of the stomach 60 33 hallmark (90%) Very frequent (99-80%) HP:0002577
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
8 dehydration 60 33 frequent (33%) Frequent (79-30%) HP:0001944
9 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
10 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
11 sepsis 60 33 frequent (33%) Frequent (79-30%) HP:0100806
12 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
13 renal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000110
14 oral mucosal blisters 60 33 frequent (33%) Frequent (79-30%) HP:0200097
15 ureterocele 60 33 frequent (33%) Frequent (79-30%) HP:0000070
16 glomerulosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0000096
17 aplasia of the bladder 60 33 frequent (33%) Frequent (79-30%) HP:0010477
18 abnormal blistering of the skin 60 33 Very frequent (99-80%) HP:0008066
19 microtia 33 HP:0008551
20 flexion contracture 33 HP:0001371
21 underdeveloped nasal alae 33 HP:0000430
22 deeply set eye 33 HP:0000490
23 fragile skin 33 HP:0001030

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
joint contractures

Head And Neck Nose:
hypoplastic nasal alae

Skin Nails Hair Skin Electron Microscopy:
hemidesmosomes may be disrupted
cleavage occurs within the lower part of basal keratinocytes
absence of plectin-1 immunostaining

Head And Neck Ears:
malformed pinnae
hypoplastic ears fused to the scalp

Head And Neck Eyes:
deep-set eyes

Skin Nails Hair Skin:
epidermolysis bullosa simplex
blistering, generalized
extreme skin fragility
congenital absence of skin in some areas (aplasia cutis)

Abdomen Gastrointestinal:
pyloric atresia

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

Clinical features from OMIM:

612138

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.62 ITGB4 PLEC

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

Genetic Tests for Epidermolysis Bullosa Simplex with Pyloric Atresia

Genetic tests related to Epidermolysis Bullosa Simplex with Pyloric Atresia:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Pyloric Atresia 30 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

42
Skin, Eye

Publications for Epidermolysis Bullosa Simplex with Pyloric Atresia

Variations for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

6 (show top 50) (show all 1700)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
2 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
3 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
4 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
5 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
6 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
7 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
8 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
9 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
10 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
11 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
12 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
13 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
14 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
15 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
16 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
17 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
18 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
19 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
20 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
21 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
22 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
23 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
24 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
25 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
26 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
27 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
28 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
29 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
30 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
31 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
32 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
33 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
34 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
35 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
36 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
37 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
38 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
39 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
40 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
41 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
42 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
43 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
44 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
45 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
46 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
47 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
48 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800
49 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh37 Chromosome 8, 144996830: 144996830
50 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh38 Chromosome 8, 143922662: 143922662

Expression for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

Pathways for Epidermolysis Bullosa Simplex with Pyloric Atresia

GO Terms for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.16 ITGB4 PLEC
2 focal adhesion GO:0005925 8.96 ITGB4 PLEC
3 hemidesmosome GO:0030056 8.62 ITGB4 PLEC

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

# Name GO ID Score Top Affiliating Genes
1 hemidesmosome assembly GO:0031581 8.62 ITGB4 PLEC

Sources for Epidermolysis Bullosa Simplex with Pyloric Atresia

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