EBSPA
MCID: EPD040
MIFTS: 40

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 57 59 74 29 13 6 72
Ebs-Pa 59 74
Epidermolysis Bullosa Simplex, with Pyloric Atresia 40
Ebs with Pyloric Atresia 57
Ebspa 57

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex with pyloric atresia
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa simplex with pyloric atresia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 612138
ICD10 via Orphanet 34 Q81.0
UMLS via Orphanet 73 C2677349
Orphanet 59 ORPHA158684
MedGen 42 C2677349
UMLS 72 C2677349

Summaries for Epidermolysis Bullosa Simplex with Pyloric Atresia

OMIM : 57 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 : 74 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 33.0 PLEC ITGB4
2 epidermolysis bullosa junctionalis with pyloric atresia 32.6 PLEC ITGB4
3 epidermolysis bullosa 9.7 PLEC ITGB4
4 pyloric atresia 9.6 PLEC ITGB4
5 epidermolysis bullosa simplex 9.6 PLEC ITGB4
6 vesiculobullous skin disease 9.6 PLEC ITGB4
7 skin disease 9.5 PLEC ITGB4
8 epidermolysis bullosa, junctional, non-herlitz type 9.4 PLEC ITGB4
9 bullous pemphigoid 9.2 PLEC ITGB4

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the stomach 59 32 hallmark (90%) Very frequent (99-80%) HP:0002577
2 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
3 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
4 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
5 aplasia cutis congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0001057
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
8 dehydration 59 32 frequent (33%) Frequent (79-30%) HP:0001944
9 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
10 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
11 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
12 sepsis 59 32 frequent (33%) Frequent (79-30%) HP:0100806
13 ureterocele 59 32 frequent (33%) Frequent (79-30%) HP:0000070
14 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
15 oral mucosal blisters 59 32 frequent (33%) Frequent (79-30%) HP:0200097
16 glomerulosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0000096
17 aplasia of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0010477
18 abnormal blistering of the skin 59 32 Very frequent (99-80%) HP:0008066
19 microtia 32 HP:0008551
20 flexion contracture 32 HP:0001371
21 underdeveloped nasal alae 32 HP:0000430
22 deeply set eye 32 HP:0000490
23 fragile skin 32 HP:0001030

Symptoms via clinical synopsis from OMIM:

57
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:

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 8.62 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 29 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex with Pyloric Atresia

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

41
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). 8 71
15681471 2005
2
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 8 71
15654962 2005
3
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. 8 71
14675180 2003
4
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 8
18374450 2008
5
Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex. 8
11122061 2000
6
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 8
10827412 2000
7
Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia. 8
7136614 1982
8
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. 38
26739954 2016
9
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 38
23289980 2013
10
Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna. 38
22144912 2011
11
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. 38
21175599 2011
12
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. 38
21413955 2011
13
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 38
20665883 2010
14
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 38
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 1097)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLEC NM_000445.5(PLEC): c.7585_7588del (p.Leu2529fs) deletion Pathogenic rs1554689309 8:144996482-144996485 8:143922314-143922317
2 PLEC NM_000445.4(PLEC): c.2680_2693del (p.Glu894Alafs) deletion Pathogenic rs864309671 8:145004312-145004325 8:143930144-143930157
3 PLEC NM_000445.5(PLEC): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs137853160 8:145009091-145009091 8:143934923-143934923
4 PLEC NM_000445.5(PLEC): c.1344G> A (p.Ser448=) single nucleotide variant Pathogenic rs864309672 8:145008166-145008166 8:143933998-143933998
5 PLEC NM_000445.5(PLEC): c.9085C> T (p.Arg3029Ter) single nucleotide variant Pathogenic rs137853161 8:144994985-144994985 8:143920817-143920817
6 PLEC NM_000445.5(PLEC): c.9081_9082delinsTT (p.Gln3028Ter) indel Pathogenic/Likely pathogenic rs1554683108 8:144994988-144994989 8:143920820-143920821
7 PLEC NM_000445.5(PLEC): c.1141C> T (p.Gln381Ter) single nucleotide variant Likely pathogenic rs1060499581 8:145008595-145008595 8:143934427-143934427
8 PLEC NM_000445.5(PLEC): c.11431C> T (p.Gln3811Ter) single nucleotide variant Likely pathogenic rs1554675388 8:144992639-144992639 8:143918471-143918471
9 PLEC NM_000445.5(PLEC): c.3342-1G> A single nucleotide variant Likely pathogenic 8:145002161-145002161 8:143927993-143927993
10 PLEC NC_000008.10: g.(?_145008783)_(145018851_?)dup duplication Likely pathogenic 8:145008783-145018851 8:143934615-143944683
11 PLEC NM_000445.5(PLEC): c.4809G> A (p.Ala1603=) single nucleotide variant Conflicting interpretations of pathogenicity rs545266312 8:144999369-144999369 8:143925201-143925201
12 PLEC NM_000445.5(PLEC): c.6329C> T (p.Ala2110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs781878105 8:144997849-144997849 8:143923681-143923681
13 PLEC NM_000445.5(PLEC): c.12297C> T (p.Phe4099=) single nucleotide variant Conflicting interpretations of pathogenicity rs150427959 8:144991773-144991773 8:143917605-143917605
14 PLEC NM_000445.5(PLEC): c.2539-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372799330 8:145004473-145004473 8:143930305-143930305
15 PLEC NM_000445.5(PLEC): c.11499C> T (p.Thr3833=) single nucleotide variant Conflicting interpretations of pathogenicity rs559510708 8:144992571-144992571 8:143918403-143918403
16 PLEC NM_000445.5(PLEC): c.4491G> A (p.Gly1497=) single nucleotide variant Conflicting interpretations of pathogenicity rs782222671 8:144999687-144999687 8:143925519-143925519
17 PLEC NM_000445.5(PLEC): c.4473C> T (p.Thr1491=) single nucleotide variant Conflicting interpretations of pathogenicity rs372029672 8:144999705-144999705 8:143925537-143925537
18 PLEC NM_000445.5(PLEC): c.8397C> T (p.Arg2799=) single nucleotide variant Conflicting interpretations of pathogenicity rs782420340 8:144995673-144995673 8:143921505-143921505
19 PLEC NM_000445.5(PLEC): c.6330G> A (p.Ala2110=) single nucleotide variant Conflicting interpretations of pathogenicity rs377026986 8:144997848-144997848 8:143923680-143923680
20 PLEC NM_000445.5(PLEC): c.1818+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371976170 8:145006952-145006952 8:143932784-143932784
21 PLEC NM_000445.5(PLEC): c.12324C> T (p.Thr4108=) single nucleotide variant Conflicting interpretations of pathogenicity rs185022156 8:144991746-144991746 8:143917578-143917578
22 PLEC NM_000445.5(PLEC): c.13290G> A (p.Pro4430=) single nucleotide variant Conflicting interpretations of pathogenicity rs200338374 8:144990780-144990780 8:143916612-143916612
23 PLEC NM_000445.5(PLEC): c.6321C> T (p.Arg2107=) single nucleotide variant Conflicting interpretations of pathogenicity rs576688705 8:144997857-144997857 8:143923689-143923689
24 PLEC NM_000445.5(PLEC): c.13149C> T (p.Phe4383=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855765 8:144990921-144990921 8:143916753-143916753
25 PLEC NM_000445.5(PLEC): c.12799G> A (p.Ala4267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201688261 8:144991271-144991271 8:143917103-143917103
26 PLEC NM_000445.5(PLEC): c.6177G> C (p.Ser2059=) single nucleotide variant Conflicting interpretations of pathogenicity rs564245730 8:144998001-144998001 8:143923833-143923833
27 PLEC NM_000445.5(PLEC): c.8147G> A (p.Arg2716His) single nucleotide variant Conflicting interpretations of pathogenicity rs782161008 8:144995923-144995923 8:143921755-143921755
28 PLEC NM_000445.5(PLEC): c.5868G> A (p.Ala1956=) single nucleotide variant Conflicting interpretations of pathogenicity rs368886943 8:144998310-144998310 8:143924142-143924142
29 PLEC NM_000445.5(PLEC): c.1731C> T (p.Ser577=) single nucleotide variant Conflicting interpretations of pathogenicity rs541271992 8:145007048-145007048 8:143932880-143932880
30 PLEC NM_000445.5(PLEC): c.9396C> T (p.Tyr3132=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044818 8:144994674-144994674 8:143920506-143920506
31 PLEC NM_000445.5(PLEC): c.9162G> A (p.Ala3054=) single nucleotide variant Conflicting interpretations of pathogenicity rs199758196 8:144994908-144994908 8:143920740-143920740
32 PLEC NM_000445.5(PLEC): c.2856C> T (p.Ala952=) single nucleotide variant Conflicting interpretations of pathogenicity rs201202488 8:145003962-145003962 8:143929794-143929794
33 PLEC NM_000445.5(PLEC): c.5601C> T (p.Ala1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs374790646 8:144998577-144998577 8:143924409-143924409
34 PLEC NM_000445.5(PLEC): c.7301G> A (p.Arg2434Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs782618396 8:144996877-144996877 8:143922709-143922709
35 PLEC NM_000445.5(PLEC): c.1959T> A (p.Thr653=) single nucleotide variant Conflicting interpretations of pathogenicity rs377039110 8:145006667-145006667 8:143932499-143932499
36 PLEC NM_000445.5(PLEC): c.5955G> A (p.Thr1985=) single nucleotide variant Conflicting interpretations of pathogenicity rs185082202 8:144998223-144998223 8:143924055-143924055
37 PLEC NM_000445.5(PLEC): c.13560G> A (p.Ser4520=) single nucleotide variant Conflicting interpretations of pathogenicity rs781929758 8:144990510-144990510 8:143916342-143916342
38 PLEC NM_000445.5(PLEC): c.6507C> T (p.Ala2169=) single nucleotide variant Conflicting interpretations of pathogenicity rs200062782 8:144997671-144997671 8:143923503-143923503
39 PLEC NM_000445.5(PLEC): c.8523C> T (p.Gly2841=) single nucleotide variant Conflicting interpretations of pathogenicity rs186703073 8:144995547-144995547 8:143921379-143921379
40 PLEC NM_000445.5(PLEC): c.13059C> T (p.Thr4353=) single nucleotide variant Conflicting interpretations of pathogenicity rs781832846 8:144991011-144991011 8:143916843-143916843
41 PLEC NM_000445.5(PLEC): c.9556G> A (p.Ala3186Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201030020 8:144994514-144994514 8:143920346-143920346
42 PLEC NM_000445.5(PLEC): c.12752C> G (p.Ala4251Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs368212208 8:144991318-144991318 8:143917150-143917150
43 PLEC NM_000445.5(PLEC): c.5842C> T (p.Arg1948Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201278290 8:144998336-144998336 8:143924168-143924168
44 PLEC NM_000445.5(PLEC): c.8926C> T (p.Arg2976Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202241157 8:144995144-144995144 8:143920976-143920976
45 PLEC NM_000445.5(PLEC): c.2036C> T (p.Thr679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs190470017 8:145006590-145006590 8:143932422-143932422
46 PLEC NM_000445.5(PLEC): c.12957G> A (p.Val4319=) single nucleotide variant Conflicting interpretations of pathogenicity rs199509259 8:144991113-144991113 8:143916945-143916945
47 PLEC NM_000445.5(PLEC): c.13263C> T (p.Thr4421=) single nucleotide variant Conflicting interpretations of pathogenicity rs373958891 8:144990807-144990807 8:143916639-143916639
48 PLEC NM_000445.5(PLEC): c.5568C> T (p.Ala1856=) single nucleotide variant Conflicting interpretations of pathogenicity rs781998103 8:144998610-144998610 8:143924442-143924442
49 PLEC NM_000445.5(PLEC): c.12556C> T (p.Arg4186Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201069314 8:144991514-144991514 8:143917346-143917346
50 PLEC NM_000445.5(PLEC): c.853C> T (p.Leu285=) single nucleotide variant Conflicting interpretations of pathogenicity rs372233686 8:145009232-145009232 8:143935064-143935064

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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