EBLA
MCID: EPD033
MIFTS: 38

Epidermolysis Bullosa, Lethal Acantholytic (EBLA)

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

Aliases & Classifications for Epidermolysis Bullosa, Lethal Acantholytic

MalaCards integrated aliases for Epidermolysis Bullosa, Lethal Acantholytic:

Name: Epidermolysis Bullosa, Lethal Acantholytic 58 54 76 30 13 6 41 74
Lethal Acantholytic Epidermolysis Bullosa 58 60 76
Ebla 58 54 76
Laeb 58 60 76
Lethal Acantholytic Epidermolysis Bullosa; Laeb 58

Characteristics:

Orphanet epidemiological data:

60
lethal acantholytic epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Miscellaneous:
neonatal death

Inheritance:
autosomal recessive


HPO:

33
epidermolysis bullosa, lethal acantholytic:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 609638
MeSH 45 D016109
MESH via Orphanet 46 C535493
ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C1864826
Orphanet 60 ORPHA158687
MedGen 43 C1864826
UMLS 74 C1864826

Summaries for Epidermolysis Bullosa, Lethal Acantholytic

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 158687Disease definitionLethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.EpidemiologyPrevalence is unknown but 3 cases have been reported to date.Clinical descriptionOnset of the disease is at birth. Erosions are associated with absent nails, universal alopecia, and, in one patient, neonatal teeth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity, and gastrointestinal, genitourinary and respiratory tract abnormalities. Cardiomyopathy has been reported in one case.EtiologyThis form of EBS is due to mutations in the DSP (6p24) gene encoding desmoplakin. A homozygousnonsense mutation in the JUP gene (17q21) has been reported in a patient with a very similar phenotype.Genetic counselingTransmission is autosomal recessive.PrognosisIn reported cases, death occurred within the first month of life from multiorgan failure secondary to huge transcutaneous fluid loss or airway obstruction due to mucosal sloughing.Visit the Orphanet disease page for more resources.

MalaCards based summary : Epidermolysis Bullosa, Lethal Acantholytic, also known as lethal acantholytic epidermolysis bullosa, is related to epidermolysis bullosa and grover's disease, and has symptoms including onychomadesis An important gene associated with Epidermolysis Bullosa, Lethal Acantholytic is DSP (Desmoplakin), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include skin and heart, and related phenotypes are alopecia and anonychia

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa, lethal acantholytic: A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.

Description from OMIM: 609638

Related Diseases for Epidermolysis Bullosa, Lethal Acantholytic

Graphical network of the top 20 diseases related to Epidermolysis Bullosa, Lethal Acantholytic:



Diseases related to Epidermolysis Bullosa, Lethal Acantholytic

Symptoms & Phenotypes for Epidermolysis Bullosa, Lethal Acantholytic

Human phenotypes related to Epidermolysis Bullosa, Lethal Acantholytic:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
2 anonychia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001798
3 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
4 oral mucosal blisters 60 33 hallmark (90%) Very frequent (99-80%) HP:0200097
5 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
6 natal tooth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000695
7 esophageal ulceration 60 33 occasional (7.5%) Occasional (29-5%) HP:0004791
8 cardiomegaly 33 occasional (7.5%) HP:0001640
9 abnormality of the nail 33 HP:0001597
10 sandal gap 33 HP:0001852
11 finger clinodactyly 33 HP:0040019
12 acantholysis 33 HP:0100792
13 syndactyly 33 HP:0001159
14 aplasia cutis congenita 33 HP:0001057
15 alopecia universalis 33 HP:0002289
16 phimosis 33 HP:0001741
17 mitten deformity 33 HP:0004057
18 widely spaced toes 33 HP:0008094
19 tapered distal phalanges of finger 33 HP:0009884

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
sandal gap
globular distal phalanges
widely spaced toes

Skin Nails Hair Nails:
absent nails
nail loss

Skeletal Hands:
pseudosyndactyly
fifth-finger clinodactyly
tapered distal phalanges
syndactyly of 2-3, 3-4, and 4-5 fingers

Cardiovascular Heart:
enlarged heart (in some patients)
poor myocardial contractility (in some patients)

Genitourinary External Genitalia Male:
phimosis, secondary to epidermolysis

Skin Nails Hair Skin Electron Microscopy:
disconnection of keratin intermediate filaments from desmosomes
acantholysis throughout epidermis
swollen mitochondria
reduced numbers of desmosomes
hypoplastic desmosomes
more
Skin Nails Hair Skin Histology:
acantholysis
suprabasal clefting

Head And Neck Teeth:
neonatal teeth

Head And Neck Ears:
prominent antihelices
squared-off superior helices
unravelling of superior helices
retroverted ears

Respiratory Airways:
obstruction of airways due to sloughed mucosa

Skin Nails Hair Skin:
progressive generalized skin erosions
cutis aplasia

Skin Nails Hair Hair:
universal alopecia

Clinical features from OMIM:

609638

UMLS symptoms related to Epidermolysis Bullosa, Lethal Acantholytic:


onychomadesis

Drugs & Therapeutics for Epidermolysis Bullosa, Lethal Acantholytic

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa, Lethal Acantholytic

Genetic Tests for Epidermolysis Bullosa, Lethal Acantholytic

Genetic tests related to Epidermolysis Bullosa, Lethal Acantholytic:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa, Lethal Acantholytic 30 DSP

Anatomical Context for Epidermolysis Bullosa, Lethal Acantholytic

MalaCards organs/tissues related to Epidermolysis Bullosa, Lethal Acantholytic:

42
Skin, Heart

Publications for Epidermolysis Bullosa, Lethal Acantholytic

Articles related to Epidermolysis Bullosa, Lethal Acantholytic:

# Title Authors Year
1
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel <i>DSP</i> Mutations. ( 28442525 )
2017
2
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. ( 20613772 )
2010
3
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. ( 20302578 )
2010
4
Lethal acantholytic epidermolysis bullosa. ( 19945626 )
2010
5
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. ( 16175511 )
2005

Variations for Epidermolysis Bullosa, Lethal Acantholytic

ClinVar genetic disease variations for Epidermolysis Bullosa, Lethal Acantholytic:

6 (show top 50) (show all 290)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
2 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
3 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
4 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
5 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
6 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
7 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
8 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
9 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
10 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
11 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
12 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
13 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
14 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
15 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
16 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
17 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
18 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
19 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh37 Chromosome 6, 7583039: 7583039
20 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh38 Chromosome 6, 7582806: 7582806
21 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
22 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
23 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
24 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
25 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
26 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178
27 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh37 Chromosome 6, 7585686: 7585686
28 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh38 Chromosome 6, 7585453: 7585453
29 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh37 Chromosome 6, 7556044: 7556044
30 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh38 Chromosome 6, 7555811: 7555811
31 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh37 Chromosome 6, 7556049: 7556049
32 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh38 Chromosome 6, 7555816: 7555816
33 DSP NM_004415.3(DSP): c.2874_2877+1delTAAGG deletion Pathogenic rs730880023 GRCh37 Chromosome 6, 7577272: 7577276
34 DSP NM_004415.3(DSP): c.2874_2877+1delTAAGG deletion Pathogenic rs730880023 GRCh38 Chromosome 6, 7577039: 7577043
35 DSP NM_004415.3(DSP): c.7248delT (p.Phe2416Leufs) deletion Pathogenic rs730880024 GRCh38 Chromosome 6, 7584510: 7584510
36 DSP NM_004415.3(DSP): c.7248delT (p.Phe2416Leufs) deletion Pathogenic rs730880024 GRCh37 Chromosome 6, 7584743: 7584743
37 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh37 Chromosome 6, 7581309: 7581309
38 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh38 Chromosome 6, 7581076: 7581076
39 DSP NM_001008844.2(DSP): c.4510A> G (p.Lys1504Glu) single nucleotide variant Uncertain significance rs149513743 GRCh37 Chromosome 6, 7583802: 7583802
40 DSP NM_001008844.2(DSP): c.4510A> G (p.Lys1504Glu) single nucleotide variant Uncertain significance rs149513743 GRCh38 Chromosome 6, 7583569: 7583569
41 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh37 Chromosome 6, 7584620: 7584620
42 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh38 Chromosome 6, 7584387: 7584387
43 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh38 Chromosome 6, 7580931: 7580931
44 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh37 Chromosome 6, 7581164: 7581164
45 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
46 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509
47 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh38 Chromosome 6, 7576437: 7576437
48 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh37 Chromosome 6, 7576670: 7576670
49 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh37 Chromosome 6, 7583322: 7583322
50 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh38 Chromosome 6, 7583089: 7583089

Expression for Epidermolysis Bullosa, Lethal Acantholytic

Search GEO for disease gene expression data for Epidermolysis Bullosa, Lethal Acantholytic.

Pathways for Epidermolysis Bullosa, Lethal Acantholytic

Pathways related to Epidermolysis Bullosa, Lethal Acantholytic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 DSP JUP
2
Show member pathways
11.66 DSP JUP
3 11.25 DSP JUP
4 10.7 DSP JUP
5 10.13 DSP JUP

GO Terms for Epidermolysis Bullosa, Lethal Acantholytic

Cellular components related to Epidermolysis Bullosa, Lethal Acantholytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.37 DSP JUP
2 cell-cell junction GO:0005911 9.32 DSP JUP
3 cornified envelope GO:0001533 9.26 DSP JUP
4 intercalated disc GO:0014704 9.16 DSP JUP
5 desmosome GO:0030057 8.96 DSP JUP
6 fascia adherens GO:0005916 8.62 DSP JUP

Biological processes related to Epidermolysis Bullosa, Lethal Acantholytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 DSP JUP
2 cell-cell adhesion GO:0098609 9.4 DSP JUP
3 cornification GO:0070268 9.37 DSP JUP
4 skin development GO:0043588 9.32 DSP JUP
5 adherens junction organization GO:0034332 9.26 DSP JUP
6 regulation of heart rate by cardiac conduction GO:0086091 9.16 DSP JUP
7 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.96 DSP JUP
8 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.62 DSP JUP

Molecular functions related to Epidermolysis Bullosa, Lethal Acantholytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.16 DSP JUP
2 cell adhesion molecule binding GO:0050839 8.96 DSP JUP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 DSP JUP

Sources for Epidermolysis Bullosa, Lethal Acantholytic

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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