EBS-PA
MCID: EPD040
MIFTS: 33

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

Articles related to Epidermolysis Bullosa Simplex with Pyloric Atresia:

# Title Authors Year
1
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. ( 15654962 )
2005
2
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). ( 15681471 )
2005
3
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. ( 14675180 )
2003

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 1712)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.2680_2693delGAGGCCGTCACCAG (p.Glu894Alafs) deletion Pathogenic rs864309671 GRCh37 Chromosome 8, 145004312: 145004325
2 PLEC NM_000445.4(PLEC): c.2680_2693delGAGGCCGTCACCAG (p.Glu894Alafs) deletion Pathogenic rs864309671 GRCh38 Chromosome 8, 143930144: 143930157
3 PLEC NM_000445.4(PLEC): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs137853160 GRCh37 Chromosome 8, 145009091: 145009091
4 PLEC NM_000445.4(PLEC): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs137853160 GRCh38 Chromosome 8, 143934923: 143934923
5 PLEC NM_201378.3(PLEC): c.1221G> A (p.Ser407=) single nucleotide variant Pathogenic rs864309672 GRCh37 Chromosome 8, 145008166: 145008166
6 PLEC NM_201378.3(PLEC): c.1221G> A (p.Ser407=) single nucleotide variant Pathogenic rs864309672 GRCh38 Chromosome 8, 143933998: 143933998
7 PLEC NM_000445.4(PLEC): c.9085C> T (p.Arg3029Ter) single nucleotide variant Pathogenic rs137853161 GRCh37 Chromosome 8, 144994985: 144994985
8 PLEC NM_000445.4(PLEC): c.9085C> T (p.Arg3029Ter) single nucleotide variant Pathogenic rs137853161 GRCh38 Chromosome 8, 143920817: 143920817
9 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh37 Chromosome 8, 144994064: 144994064
10 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh38 Chromosome 8, 143919896: 143919896
11 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh37 Chromosome 8, 144994044: 144994044
12 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh38 Chromosome 8, 143919876: 143919876
13 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh37 Chromosome 8, 144993572: 144993572
14 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh38 Chromosome 8, 143919404: 143919404
15 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh37 Chromosome 8, 144993333: 144993333
16 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh38 Chromosome 8, 143919165: 143919165
17 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh37 Chromosome 8, 144993230: 144993230
18 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh38 Chromosome 8, 143919062: 143919062
19 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh37 Chromosome 8, 144992049: 144992049
20 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh38 Chromosome 8, 143917881: 143917881
21 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh37 Chromosome 8, 144991995: 144991995
22 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh38 Chromosome 8, 143917827: 143917827
23 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh37 Chromosome 8, 144991428: 144991428
24 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh38 Chromosome 8, 143917260: 143917260
25 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh37 Chromosome 8, 144991205: 144991205
26 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh38 Chromosome 8, 143917037: 143917037
27 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh37 Chromosome 8, 144990879: 144990879
28 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh38 Chromosome 8, 143916711: 143916711
29 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh37 Chromosome 8, 144990587: 144990587
30 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh38 Chromosome 8, 143916419: 143916419
31 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh37 Chromosome 8, 145006793: 145006793
32 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh38 Chromosome 8, 143932625: 143932625
33 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
34 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
35 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh37 Chromosome 8, 145004714: 145004714
36 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh38 Chromosome 8, 143930546: 143930546
37 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh37 Chromosome 8, 145002070: 145002070
38 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh38 Chromosome 8, 143927902: 143927902
39 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh37 Chromosome 8, 145002043: 145002043
40 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh38 Chromosome 8, 143927875: 143927875
41 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh37 Chromosome 8, 145001652: 145001652
42 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh38 Chromosome 8, 143927484: 143927484
43 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh37 Chromosome 8, 145001512: 145001512
44 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh38 Chromosome 8, 143927344: 143927344
45 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh37 Chromosome 8, 144999541: 144999541
46 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh38 Chromosome 8, 143925373: 143925373
47 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh37 Chromosome 8, 144999540: 144999540
48 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh38 Chromosome 8, 143925372: 143925372
49 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh37 Chromosome 8, 144999453: 144999453
50 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh38 Chromosome 8, 143925285: 143925285

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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