EBSPA
MCID: EPD040
MIFTS: 41

Epidermolysis Bullosa Simplex with Pyloric Atresia (EBSPA)

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 56 58 73 29 13 6 71
Ebs-Pa 58 73
Epidermolysis Bullosa Simplex, with Pyloric Atresia 39
Ebs with Pyloric Atresia 56
Ebspa 56

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex with pyloric atresia
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epidermolysis bullosa simplex with pyloric atresia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Epidermolysis Bullosa Simplex with Pyloric Atresia

OMIM : 56 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 abnormality of the stomach and polyhydramnios

UniProtKB/Swiss-Prot : 73 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

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the stomach 58 31 hallmark (90%) Very frequent (99-80%) HP:0002577
2 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
3 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
4 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
5 aplasia cutis congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0001057
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 dehydration 58 31 frequent (33%) Frequent (79-30%) HP:0001944
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
10 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
11 sepsis 58 31 frequent (33%) Frequent (79-30%) HP:0100806
12 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
13 renal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000110
14 ureterocele 58 31 frequent (33%) Frequent (79-30%) HP:0000070
15 oral mucosal blisters 58 31 frequent (33%) Frequent (79-30%) HP:0200097
16 aplasia of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0010477
17 glomerulosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0000096
18 abnormal blistering of the skin 58 31 Very frequent (99-80%) HP:0008066
19 microtia 31 HP:0008551
20 flexion contracture 31 HP:0001371
21 deeply set eye 31 HP:0000490
22 underdeveloped nasal alae 31 HP:0000430
23 fragile skin 31 HP:0001030

Symptoms via clinical synopsis from OMIM:

56
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

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 29 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

40
Skin, Eye

Publications for Epidermolysis Bullosa Simplex with Pyloric Atresia

Articles related to Epidermolysis Bullosa Simplex with Pyloric Atresia:

(show all 14)
# Title Authors PMID Year
1
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). 6 56
15681471 2005
2
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 56 6
15654962 2005
3
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. 56 6
14675180 2003
4
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 56
18374450 2008
5
Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex. 56
11122061 2000
6
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 56
10827412 2000
7
Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia. 56
7136614 1982
8
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. 61
26739954 2016
9
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 61
23289980 2013
10
Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna. 61
22144912 2011
11
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. 61
21175599 2011
12
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. 61
21413955 2011
13
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 61
20665883 2010
14
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 61
20052759 2010

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 1505) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLEC NM_000445.5(PLEC):c.7585_7588del (p.Leu2529fs)deletion Pathogenic 538947 rs1554689309 8:144996482-144996485 8:143922314-143922317
2 PLEC NM_000445.5(PLEC):c.8161_8165dup (p.Ser2723fs)duplication Pathogenic 840189 8:144995904-144995905 8:143921736-143921737
3 PLEC NM_000445.5(PLEC):c.2681_2693+1deldeletion Pathogenic 8263 rs864309671 8:145004311-145004324 8:143930143-143930156
4 PLEC NM_000445.5(PLEC):c.913C>T (p.Gln305Ter)SNV Pathogenic 8264 rs137853160 8:145009091-145009091 8:143934923-143934923
5 PLEC NM_000445.5(PLEC):c.1344G>A (p.Ser448=)SNV Pathogenic 8265 rs864309672 8:145008166-145008166 8:143933998-143933998
6 PLEC NM_000445.5(PLEC):c.9085C>T (p.Arg3029Ter)SNV Pathogenic 8266 rs137853161 8:144994985-144994985 8:143920817-143920817
7 PLEC NM_000445.5(PLEC):c.9081_9082delinsTT (p.Gln3028Ter)indel Pathogenic/Likely pathogenic 499702 rs1554683108 8:144994988-144994989 8:143920820-143920821
8 PLEC NM_000445.5(PLEC):c.1141C>T (p.Gln381Ter)SNV Likely pathogenic 417887 rs1060499581 8:145008595-145008595 8:143934427-143934427
9 PLEC NM_000445.5(PLEC):c.11431C>T (p.Gln3811Ter)SNV Likely pathogenic 538961 rs1554675388 8:144992639-144992639 8:143918471-143918471
10 PLEC NM_000445.5(PLEC):c.3342-1G>ASNV Likely pathogenic 577780 rs111730406 8:145002161-145002161 8:143927993-143927993
11 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dupduplication Likely pathogenic 658433 8:145008783-145018851 8:143934615-143944683
12 PLEC NM_000445.5(PLEC):c.12750C>T (p.Arg4250=)SNV Conflicting interpretations of pathogenicity 595339 rs571894941 8:144991320-144991320 8:143917152-143917152
13 PLEC NM_000445.5(PLEC):c.2631C>G (p.Ala877=)SNV Conflicting interpretations of pathogenicity 598190 rs376777606 8:145004374-145004374 8:143930206-143930206
14 PLEC NM_000445.5(PLEC):c.4757G>A (p.Arg1586Gln)SNV Conflicting interpretations of pathogenicity 659895 8:144999421-144999421 8:143925253-143925253
15 PLEC NM_000445.5(PLEC):c.9273C>T (p.Thr3091=)SNV Conflicting interpretations of pathogenicity 594663 rs781876705 8:144994797-144994797 8:143920629-143920629
16 PLEC NM_000445.5(PLEC):c.1027-6T>CSNV Conflicting interpretations of pathogenicity 93016 rs200168705 8:145008904-145008904 8:143934736-143934736
17 PLEC NM_000445.5(PLEC):c.10498G>A (p.Gly3500Ser)SNV Conflicting interpretations of pathogenicity 93017 rs201765507 8:144993572-144993572 8:143919404-143919404
18 PLEC NM_000445.5(PLEC):c.10737G>A (p.Val3579=)SNV Conflicting interpretations of pathogenicity 93019 rs368312695 8:144993333-144993333 8:143919165-143919165
19 PLEC NM_000445.5(PLEC):c.12075C>T (p.Pro4025=)SNV Conflicting interpretations of pathogenicity 93027 rs113137721 8:144991995-144991995 8:143917827-143917827
20 PLEC NM_000445.5(PLEC):c.10006C>T (p.Arg3336Cys)SNV Conflicting interpretations of pathogenicity 93014 rs77303974 8:144994064-144994064 8:143919896-143919896
21 PLEC NM_000445.5(PLEC):c.4637C>T (p.Ser1546Leu)SNV Conflicting interpretations of pathogenicity 93053 rs182120395 8:144999541-144999541 8:143925373-143925373
22 PLEC NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg)SNV Conflicting interpretations of pathogenicity 129918 rs34132016 8:144994028-144994028 8:143919860-143919860
23 PLEC NM_000445.5(PLEC):c.7902C>T (p.Ala2634=)SNV Conflicting interpretations of pathogenicity 93079 rs398123402 8:144996168-144996168 8:143922000-143922000
24 PLEC NM_000445.5(PLEC):c.12696C>T (p.Ile4232=)SNV Conflicting interpretations of pathogenicity 129930 rs202116866 8:144991374-144991374 8:143917206-143917206
25 PLEC NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)SNV Conflicting interpretations of pathogenicity 129932 rs201820569 8:145049405-145049405 8:143975237-143975237
26 PLEC NM_000445.5(PLEC):c.7834G>C (p.Glu2612Gln)SNV Conflicting interpretations of pathogenicity 167507 rs200488179 8:144996236-144996236 8:143922068-143922068
27 PLEC NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln)SNV Conflicting interpretations of pathogenicity 167510 rs201430180 8:144999499-144999499 8:143925331-143925331
28 PLEC NM_000445.5(PLEC):c.2559C>T (p.Asp853=)SNV Conflicting interpretations of pathogenicity 167514 rs202135215 8:145004446-145004446 8:143930278-143930278
29 PLEC NM_000445.5(PLEC):c.255+10deldeletion Conflicting interpretations of pathogenicity 167515 rs528031000 8:145012789-145012789 8:143938621-143938621
30 PLEC NM_000445.5(PLEC):c.1131G>A (p.Val377=)SNV Conflicting interpretations of pathogenicity 193993 rs74461721 8:145008605-145008605 8:143934437-143934437
31 PLEC NM_000445.5(PLEC):c.1239C>G (p.Ser413Arg)SNV Conflicting interpretations of pathogenicity 193994 rs201667254 8:145008497-145008497 8:143934329-143934329
32 PLEC NM_000445.5(PLEC):c.1626C>T (p.Pro542=)SNV Conflicting interpretations of pathogenicity 194475 rs199968254 8:145007153-145007153 8:143932985-143932985
33 PLEC NM_000445.5(PLEC):c.2318G>A (p.Arg773His)SNV Conflicting interpretations of pathogenicity 195001 rs200887085 8:145005769-145005769 8:143931601-143931601
34 PLEC NM_000445.5(PLEC):c.2539-8C>TSNV Conflicting interpretations of pathogenicity 195654 rs201818691 8:145004474-145004474 8:143930306-143930306
35 PLEC NM_000445.5(PLEC):c.2632G>A (p.Val878Met)SNV Conflicting interpretations of pathogenicity 195656 rs200647397 8:145004373-145004373 8:143930205-143930205
36 PLEC NM_000445.5(PLEC):c.2925C>T (p.Pro975=)SNV Conflicting interpretations of pathogenicity 195801 rs200482255 8:145003893-145003893 8:143929725-143929725
37 PLEC NM_000445.5(PLEC):c.2829C>T (p.Thr943=)SNV Conflicting interpretations of pathogenicity 195802 rs372942259 8:145003989-145003989 8:143929821-143929821
38 PLEC NM_000445.5(PLEC):c.7911G>A (p.Ala2637=)SNV Conflicting interpretations of pathogenicity 167506 rs376112916 8:144996159-144996159 8:143921991-143921991
39 PLEC NM_000445.5(PLEC):c.3252G>A (p.Ser1084=)SNV Conflicting interpretations of pathogenicity 195915 rs371271326 8:145003360-145003360 8:143929192-143929192
40 PLEC NM_000445.5(PLEC):c.3812T>G (p.Val1271Gly)SNV Conflicting interpretations of pathogenicity 196105 rs187648086 8:145001603-145001603 8:143927435-143927435
41 PLEC NM_000445.5(PLEC):c.255+10G>ASNV Conflicting interpretations of pathogenicity 196274 rs181850748 8:145012789-145012789 8:143938621-143938621
42 PLEC NM_000445.5(PLEC):c.3966G>A (p.Pro1322=)SNV Conflicting interpretations of pathogenicity 196611 rs148465219 8:145001205-145001205 8:143927037-143927037
43 PLEC NM_000445.5(PLEC):c.7348G>A (p.Ala2450Thr)SNV Conflicting interpretations of pathogenicity 196716 rs193257576 8:144996830-144996830 8:143922662-143922662
44 PLEC NM_000445.5(PLEC):c.4732C>T (p.Arg1578Cys)SNV Conflicting interpretations of pathogenicity 196717 rs2857824 8:144999446-144999446 8:143925278-143925278
45 PLEC NM_000445.5(PLEC):c.6867G>A (p.Thr2289=)SNV Conflicting interpretations of pathogenicity 196721 rs373922545 8:144997311-144997311 8:143923143-143923143
46 PLEC NM_000445.5(PLEC):c.4605G>A (p.Gln1535=)SNV Conflicting interpretations of pathogenicity 196722 rs370168097 8:144999573-144999573 8:143925405-143925405
47 PLEC NM_000445.5(PLEC):c.5472C>T (p.Arg1824=)SNV Conflicting interpretations of pathogenicity 196732 rs551187778 8:144998706-144998706 8:143924538-143924538
48 PLEC NM_000445.5(PLEC):c.4157G>A (p.Arg1386His)SNV Conflicting interpretations of pathogenicity 196736 rs574482100 8:145000021-145000021 8:143925853-143925853
49 PLEC NM_000445.5(PLEC):c.6303C>T (p.Ser2101=)SNV Conflicting interpretations of pathogenicity 196738 rs370347438 8:144997875-144997875 8:143923707-143923707
50 PLEC NM_000445.5(PLEC):c.2910G>A (p.Ala970=)SNV Conflicting interpretations of pathogenicity 586329 rs369370495 8:145003908-145003908 8:143929740-143929740

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 PLEC ITGB4
2 focal adhesion GO:0005925 8.96 PLEC ITGB4
3 hemidesmosome GO:0030056 8.62 PLEC ITGB4

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 PLEC ITGB4

Sources for Epidermolysis Bullosa Simplex with Pyloric Atresia

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