EBLA
MCID: EPD033
MIFTS: 41

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 57 20 72 13 39 70
Lethal Acantholytic Epidermolysis Bullosa 57 72 29 6
Ebla 57 20 72
Laeb 57 72
Lethal Acantholytic Epidermolysis Bullosa; Laeb 57
Lethal Acantholytic Erosive Disorder 58

Characteristics:

Orphanet epidemiological data:

58
lethal acantholytic erosive disorder
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
neonatal death

Inheritance:
autosomal recessive


HPO:

31
epidermolysis bullosa, lethal acantholytic:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 609638
MeSH 44 D016109
MESH via Orphanet 45 C535493
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 71 C1864826
Orphanet 58 ORPHA158687
MedGen 41 C1864826
UMLS 70 C1864826

Summaries for Epidermolysis Bullosa, Lethal Acantholytic

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 158687 Definition Lethal 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. Epidemiology Prevalence is unknown but 3 cases have been reported to date. Clinical description Onset 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. Etiology This form of EBS is due to mutations in the DSP (6p24) gene encoding desmoplakin. A homozygous nonsense mutation in the JUP gene (17q21) has been reported in a patient with a very similar phenotype. Genetic counseling Transmission is autosomal recessive. Prognosis In 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.

MalaCards based summary : Epidermolysis Bullosa, Lethal Acantholytic, also known as lethal acantholytic epidermolysis bullosa, is related to arrhythmogenic right ventricular dysplasia, familial, 8 and cardiomyopathy, dilated, with woolly hair and keratoderma, 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. Affiliated tissues include skin and heart, and related phenotypes are alopecia and skin erosion

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 609638

Related Diseases for Epidermolysis Bullosa, Lethal Acantholytic

Diseases related to Epidermolysis Bullosa, Lethal Acantholytic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 8 30.3 JUP DSP
2 cardiomyopathy, dilated, with woolly hair and keratoderma 30.3 JUP DSP
3 pemphigus 30.0 JUP DSP
4 familial woolly hair syndrome 29.9 JUP DSP
5 palmoplantar keratosis 29.9 JUP DSP
6 arrhythmogenic right ventricular cardiomyopathy 29.8 JUP DSP
7 epidermolysis bullosa 10.6
8 epidermolysis bullosa simplex 10.6
9 alopecia 10.5
10 skin fragility-woolly hair syndrome 10.2
11 autosomal recessive disease 10.2
12 heart disease 10.2
13 erythrokeratoderma ''en cocardes'' 10.2
14 striate palmoplantar keratoderma 10.2
15 grover's disease 9.8 JUP DSP
16 arrhythmogenic right ventricular dysplasia, familial, 4 9.8 JUP DSP
17 arrhythmogenic right ventricular dysplasia, familial, 6 9.8 JUP DSP
18 palmoplantar keratoderma and woolly hair 9.8 JUP DSP
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.8 JUP DSP
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.8 JUP DSP
21 ectodermal dysplasia/skin fragility syndrome 9.8 JUP DSP
22 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.8 JUP DSP
23 diffuse palmoplantar keratoderma 9.8 JUP DSP
24 arrhythmogenic right ventricular dysplasia, familial, 5 9.8 JUP DSP
25 arrhythmogenic right ventricular dysplasia, familial, 11 9.8 JUP DSP
26 arrhythmogenic right ventricular dysplasia, familial, 9 9.8 JUP DSP
27 arrhythmogenic right ventricular dysplasia, familial, 10 9.8 JUP DSP
28 naxos disease 9.8 JUP DSP
29 palmoplantar keratoderma, nonepidermolytic 9.8 JUP DSP
30 benign chronic pemphigus 9.8 JUP DSP
31 darier-white disease 9.8 JUP DSP
32 pemphigus vulgaris, familial 9.7 JUP DSP
33 cardiac arrhythmia 9.7 JUP DSP
34 atrial standstill 1 9.7 JUP DSP
35 left ventricular noncompaction 9.6 JUP DSP
36 brugada syndrome 9.5 JUP DSP

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:

31 58 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 31 hallmark (90%) HP:0001596
2 skin erosion 31 hallmark (90%) HP:0200041
3 anonychia 31 hallmark (90%) HP:0001798
4 oral mucosal blisters 31 hallmark (90%) HP:0200097
5 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
6 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
7 natal tooth 58 31 occasional (7.5%) Frequent (79-30%) HP:0000695
8 esophageal ulceration 31 occasional (7.5%) HP:0004791
9 acantholysis 58 31 Frequent (79-30%) HP:0100792
10 abnormality of the helix 58 Occasional (29-5%)
11 abnormality of the nail 31 HP:0001597
12 cleft palate 58 Occasional (29-5%)
13 intrauterine growth retardation 58 Occasional (29-5%)
14 abnormality of the skeletal system 58 Occasional (29-5%)
15 sandal gap 31 HP:0001852
16 clinodactyly of the 5th finger 58 Occasional (29-5%)
17 respiratory failure 58 Frequent (79-30%)
18 absent eyelashes 58 Frequent (79-30%)
19 oligohydramnios 58 Occasional (29-5%)
20 absent eyebrow 58 Frequent (79-30%)
21 alopecia universalis 31 HP:0002289
22 congenital alopecia totalis 58 Frequent (79-30%)
23 aplasia cutis congenita 31 HP:0001057
24 absent fingernail 58 Frequent (79-30%)
25 absent toenail 58 Frequent (79-30%)
26 2-3 finger syndactyly 58 Occasional (29-5%)
27 camptodactyly of toe 58 Occasional (29-5%)
28 finger clinodactyly 31 HP:0040019
29 fragile skin 58 Frequent (79-30%)
30 phimosis 31 HP:0001741
31 syndactyly 31 HP:0001159
32 mitten deformity 31 HP:0004057
33 3-4 finger syndactyly 58 Occasional (29-5%)
34 impaired myocardial contractility 58 Occasional (29-5%)
35 absent hair 58 Frequent (79-30%)
36 hypovolemic shock 58 Frequent (79-30%)
37 abnormal dermoepidermal junction morphology 58 Frequent (79-30%)
38 abnormal dermoepidermal hemidesmosome morphology 58 Frequent (79-30%)
39 4-5 finger syndactyly 58 Occasional (29-5%)
40 bilateral external ear deformity 58 Occasional (29-5%)
41 widely spaced toes 31 HP:0008094
42 tapered distal phalanges of finger 31 HP:0009884

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
sandal gap
widely spaced toes
globular distal phalanges

Skin Nails Hair Nails:
absent nails
nail loss

Skeletal Hands:
fifth-finger clinodactyly
pseudosyndactyly
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 (Updated 20-May-2021)

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 Lethal Acantholytic Epidermolysis Bullosa 29 DSP

Anatomical Context for Epidermolysis Bullosa, Lethal Acantholytic

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

40
Skin, Heart

Publications for Epidermolysis Bullosa, Lethal Acantholytic

Articles related to Epidermolysis Bullosa, Lethal Acantholytic:

# Title Authors PMID Year
1
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. 6 61 57
20613772 2010
2
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. 61 6 57
20302578 2010
3
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61 57 6
16175511 2005
4
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma. 61
29607617 2019
5
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations. 61
28442525 2017
6
Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes. 61
24738885 2014
7
Lethal acantholytic epidermolysis bullosa. 61
19945626 2010

Variations for Epidermolysis Bullosa, Lethal Acantholytic

ClinVar genetic disease variations for Epidermolysis Bullosa, Lethal Acantholytic:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) SNV Pathogenic 16843 rs121912996 GRCh37: 6:7583295-7583295
GRCh38: 6:7583062-7583062
2 DSP NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) Deletion Pathogenic 16844 rs397514040 GRCh37: 6:7583585-7583586
GRCh38: 6:7583352-7583353
3 DSP NM_004415.4(DSP):c.2876_2877+3del Deletion Pathogenic 180180 rs730880023 GRCh37: 6:7577272-7577276
GRCh38: 6:7577039-7577043
4 DSP NM_004415.4(DSP):c.7248del (p.Phe2416fs) Deletion Pathogenic 180181 rs730880024 GRCh37: 6:7584738-7584738
GRCh38: 6:7584505-7584505
5 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 GRCh37: 6:7562986-7562986
GRCh38: 6:7562753-7562753
6 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Likely pathogenic 199916 rs794728137 GRCh37: 6:7565740-7565741
GRCh38: 6:7565507-7565508
7 DSP NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) SNV Uncertain significance 161226 rs148147581 GRCh37: 6:7570791-7570791
GRCh38: 6:7570558-7570558
8 DSP NM_004415.4(DSP):c.5283C>T (p.Asn1761=) SNV Uncertain significance 357957 rs763355815 GRCh37: 6:7581706-7581706
GRCh38: 6:7581473-7581473
9 DSP NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) SNV Uncertain significance 222575 rs869025391 GRCh37: 6:7575024-7575024
GRCh38: 6:7574791-7574791
10 DSP NM_004415.4(DSP):c.273+5G>A SNV Uncertain significance 163237 rs200473206 GRCh37: 6:7556058-7556058
GRCh38: 6:7555825-7555825
11 DSP NM_004415.4(DSP):c.137G>A (p.Gly46Asp) SNV Uncertain significance 451932 rs140403872 GRCh37: 6:7542285-7542285
GRCh38: 6:7542052-7542052
12 DSP NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) SNV Uncertain significance 519064 rs1554107098 GRCh37: 6:7571779-7571779
GRCh38: 6:7571546-7571546
13 DSP NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) SNV Uncertain significance 263528 rs772381363 GRCh37: 6:7584397-7584397
GRCh38: 6:7584164-7584164
14 DSP NM_004415.4(DSP):c.3423A>C (p.Gln1141His) SNV Uncertain significance 908051 GRCh37: 6:7579846-7579846
GRCh38: 6:7579613-7579613
15 DSP NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) SNV Uncertain significance 566122 rs200745877 GRCh37: 6:7580540-7580540
GRCh38: 6:7580307-7580307
16 DSP NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) SNV Uncertain significance 631403 rs377344768 GRCh37: 6:7581609-7581609
GRCh38: 6:7581376-7581376
17 DSP NM_004415.4(DSP):c.5649G>A (p.Ser1883=) SNV Uncertain significance 534329 rs760974941 GRCh37: 6:7583144-7583144
GRCh38: 6:7582911-7582911
18 DSP NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) SNV Uncertain significance 357967 rs764232504 GRCh37: 6:7586002-7586002
GRCh38: 6:7585769-7585769
19 DSP NM_004415.4(DSP):c.-228C>A SNV Uncertain significance 357930 rs886061739 GRCh37: 6:7541921-7541921
GRCh38: 6:7541688-7541688
20 DSP NM_004415.3(DSP):c.-260A>G SNV Uncertain significance 357929 rs886061738 GRCh37: 6:7541889-7541889
GRCh38: 6:7541656-7541656
21 DSP NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) SNV Uncertain significance 357953 rs796530013 GRCh37: 6:7581102-7581102
GRCh38: 6:7580869-7580869
22 DSP NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) SNV Uncertain significance 357963 rs777901747 GRCh37: 6:7584463-7584463
GRCh38: 6:7584230-7584230
23 DSP NM_004415.4(DSP):c.7557G>A (p.Leu2519=) SNV Uncertain significance 44953 rs397516957 GRCh37: 6:7585052-7585052
GRCh38: 6:7584819-7584819
24 DSP NM_004415.4(DSP):c.8301C>G (p.Thr2767=) SNV Uncertain significance 36025 rs145362059 GRCh37: 6:7585796-7585796
GRCh38: 6:7585563-7585563
25 DSP NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) SNV Uncertain significance 199895 rs140663822 GRCh37: 6:7583322-7583322
GRCh38: 6:7583089-7583089
26 DSP NM_004415.4(DSP):c.1469G>A (p.Arg490His) SNV Uncertain significance 357940 rs747815091 GRCh37: 6:7569468-7569468
GRCh38: 6:7569235-7569235
27 DSP NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) SNV Uncertain significance 357945 rs749051278 GRCh37: 6:7576615-7576615
GRCh38: 6:7576382-7576382
28 DSP NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) SNV Uncertain significance 357949 rs886061746 GRCh37: 6:7579812-7579812
GRCh38: 6:7579579-7579579
29 DSP NM_004415.4(DSP):c.-179T>C SNV Uncertain significance 357932 rs886061741 GRCh37: 6:7541970-7541970
GRCh38: 6:7541737-7541737
30 DSP NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) SNV Uncertain significance 357965 rs147484870 GRCh37: 6:7585378-7585378
GRCh38: 6:7585145-7585145
31 DSP NM_004415.4(DSP):c.5064G>A (p.Ala1688=) SNV Uncertain significance 357955 rs886061747 GRCh37: 6:7581487-7581487
GRCh38: 6:7581254-7581254
32 DSP NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) SNV Uncertain significance 44969 rs142717240 GRCh37: 6:7585962-7585962
GRCh38: 6:7585729-7585729
33 DSP NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) SNV Uncertain significance 161227 rs34738426 GRCh37: 6:7581747-7581747
GRCh38: 6:7581514-7581514
34 DSP NM_004415.4(DSP):c.5316T>C (p.Asp1772=) SNV Uncertain significance 357958 rs376186141 GRCh37: 6:7581739-7581739
GRCh38: 6:7581506-7581506
35 DSP NM_004415.4(DSP):c.36C>T (p.Asn12=) SNV Uncertain significance 357936 rs886061744 GRCh37: 6:7542184-7542184
GRCh38: 6:7541951-7541951
36 DSP NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) SNV Uncertain significance 357950 rs751566392 GRCh37: 6:7580024-7580024
GRCh38: 6:7579791-7579791
37 DSP NM_004415.4(DSP):c.943C>T (p.Arg315Cys) SNV Uncertain significance 44982 rs200476515 GRCh37: 6:7566613-7566613
GRCh38: 6:7566380-7566380
38 DSP NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) SNV Uncertain significance 357943 rs755067397 GRCh37: 6:7574969-7574969
GRCh38: 6:7574736-7574736
39 DSP NM_004415.4(DSP):c.*358A>T SNV Uncertain significance 357978 rs886061752 GRCh37: 6:7586469-7586469
GRCh38: 6:7586236-7586236
40 DSP NM_004415.4(DSP):c.727-11T>C SNV Uncertain significance 357937 rs886061745 GRCh37: 6:7563958-7563958
GRCh38: 6:7563725-7563725
41 DSP NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) SNV Uncertain significance 357941 rs764951792 GRCh37: 6:7571754-7571754
GRCh38: 6:7571521-7571521
42 DSP NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) SNV Uncertain significance 357947 rs751361395 GRCh37: 6:7579569-7579569
GRCh38: 6:7579336-7579336
43 DSP NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) SNV Uncertain significance 228649 rs142078450 GRCh37: 6:7585117-7585117
GRCh38: 6:7584884-7584884
44 DSP NM_004415.4(DSP):c.*386G>T SNV Uncertain significance 357980 rs886061754 GRCh37: 6:7586497-7586497
GRCh38: 6:7586264-7586264
45 DSP NM_004415.4(DSP):c.2247A>G (p.Leu749=) SNV Uncertain significance 357942 rs28763963 GRCh37: 6:7574435-7574435
GRCh38: 6:7574202-7574202
46 DSP NM_004415.4(DSP):c.4857G>C (p.Leu1619=) SNV Uncertain significance 357954 rs373385083 GRCh37: 6:7581280-7581280
GRCh38: 6:7581047-7581047
47 DSP NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) SNV Uncertain significance 199875 rs139799237 GRCh37: 6:7576670-7576670
GRCh38: 6:7576437-7576437
48 DSP NM_004415.4(DSP):c.264C>T (p.Ile88=) SNV Uncertain significance 163235 rs727502997 GRCh37: 6:7556044-7556044
GRCh38: 6:7555811-7555811
49 DSP NM_004415.4(DSP):c.*577G>A SNV Uncertain significance 357981 rs886061755 GRCh37: 6:7586688-7586688
GRCh38: 6:7586455-7586455
50 DSP NM_004415.4(DSP):c.*62A>T SNV Uncertain significance 357970 rs182788116 GRCh37: 6:7586173-7586173
GRCh38: 6:7585940-7585940

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 JUP DSP
2 11.44 JUP DSP
3 11.25 JUP DSP
4 10.7 JUP DSP
5 10.13 JUP DSP

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 JUP DSP
2 cell-cell junction GO:0005911 9.32 JUP DSP
3 intercalated disc GO:0014704 9.26 JUP DSP
4 cornified envelope GO:0001533 9.16 JUP DSP
5 desmosome GO:0030057 8.96 JUP DSP
6 fascia adherens GO:0005916 8.62 JUP DSP

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.46 JUP DSP
2 keratinization GO:0031424 9.43 JUP DSP
3 cell-cell adhesion GO:0098609 9.4 JUP DSP
4 cornification GO:0070268 9.37 JUP DSP
5 skin development GO:0043588 9.32 JUP DSP
6 adherens junction organization GO:0034332 9.26 JUP DSP
7 regulation of heart rate by cardiac conduction GO:0086091 9.16 JUP DSP
8 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.96 JUP DSP
9 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.62 JUP DSP

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 JUP DSP
2 cell adhesion molecule binding GO:0050839 8.96 JUP DSP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 JUP DSP

Sources for Epidermolysis Bullosa, Lethal Acantholytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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