EBS
MCID: EPD003
MIFTS: 57

Epidermolysis Bullosa Simplex (EBS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

MalaCards integrated aliases for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 12 25 20 43 58 36 29 54 6 44 15 70 32
Ebs 43 58
Epidermolysis Bullosa Intraepidermic 20

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (United States),1-9/1000000 (United States),1-9/100000 (United Kingdom); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

GeneReviews:

25
Penetrance Penetrance is 100% for known heterozygous (autosomal dominant) and biallelic (autosomal recessive) krt5 and krt14 pathogenic variants. penetrance is also 100% for known biallelic pathogenic variants in exph5 and tgm5. disease severity may be influenced by other factors and may show intrafamilial variation [indelman et al 2005].

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4644
KEGG 36 H00584
MeSH 44 D016110
NCIt 50 C84692
SNOMED-CT 67 205585003
ICD10 32 Q81.0
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 71 C0079298
Orphanet 58 ORPHA304
UMLS 70 C0079298

Summaries for Epidermolysis Bullosa Simplex

MedlinePlus Genetics : 43 Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.Researchers have identified four major types of epidermolysis bullosa simplex.Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms.The mildest form of epidermolysis bullosa simplex, known as the localized type (formerly called the Weber-Cockayne type), is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. Later in life, skin on the palms of the hands and soles of the feet may thicken and harden (hyperkeratosis).The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles.Another form of epidermolysis bullosa simplex, known as the other generalized type (formerly called the Koebner type), is associated with widespread blisters that appear at birth or in early infancy. The blistering tends to be less severe than in the Dowling-Meara type.Epidermolysis bullosa simplex with mottled pigmentation is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth.In addition to the four major types described above, researchers have identified another skin condition related to epidermolysis bullosa simplex, which they call the Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether the Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa.Several other variants of epidermolysis bullosa simplex have been proposed, but they appear to be very rare.

MalaCards based summary : Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex, localized and epidermolysis bullosa simplex, generalized. An important gene associated with Epidermolysis Bullosa Simplex is KRT5 (Keratin 5), and among its related pathways/superpathways are Developmental Biology and Collagen chain trimerization. The drugs Erythromycin and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and tongue, and related phenotypes are abnormal blistering of the skin and palmoplantar keratoderma

Disease Ontology : 12 An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has material basis in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.

GARD : 20 Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory. The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS). Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases. Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.

KEGG : 36 Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa demonstrate blister formation within the basal keratinocytes due to the mutations in the basal keratin genes, KRT5 and KRT14.

GeneReviews: NBK1369

Related Diseases for Epidermolysis Bullosa Simplex

Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Simplex, Autosomal Recessive 1
Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, localized 33.6 PLEC KRT5 KRT14 ITGB4 GALK1
2 epidermolysis bullosa simplex, generalized 33.6 PLEC KRT5 KRT14 KLHL24 COL17A1
3 epidermolysis bullosa simplex with muscular dystrophy 33.6 PLEC DST COL17A1
4 epidermolysis bullosa simplex, autosomal recessive 1 33.5 KRT5 KRT14
5 epidermolysis bullosa simplex with pyloric atresia 33.5 PLEC ITGB4
6 epidermolysis bullosa simplex, dowling-meara type 33.4 PLEC PKP1 KRT5 KRT14 KRT10 DSP
7 ectodermal dysplasia/skin fragility syndrome 33.3 PKP1 DSP
8 epidermolysis bullosa simplex with mottled pigmentation 33.3 PLEC PKP1 KRT5 KRT14 KRT10 EXPH5
9 epidermolysis bullosa with pyloric atresia 31.5 PLEC ITGB4 GALK1
10 pemphigoid 31.4 ITGB4 DST COL17A1
11 pyloric atresia 31.4 PLEC ITGB4 GALK1 COL17A1
12 aplasia cutis congenita, nonsyndromic 31.2 PLEC ITGB4
13 autosomal dominant epidermolytic ichthyosis 31.1 KRT10 KRT1 COL7A1
14 pemphigus 30.8 PKP1 DST DSP COL17A1
15 bullous pemphigoid 30.8 PLEC KRT5 KRT14 IVL ITGB4 DST
16 familial woolly hair syndrome 30.7 PLEC PKP1 DSP
17 junctional epidermolysis bullosa 30.7 PLEC KRT14 ITGB4 GALK1 EXPH5 DST
18 kindler syndrome 30.7 PLEC ITGB4 DST COL7A1 COL17A1
19 epidermolysis bullosa 30.7 TGM5 PLEC PKP1 KRT5 KRT17 KRT16
20 ichthyosis bullosa of siemens 30.7 KRT10 KRT1
21 pemphigoid gestationis 30.6 DST COL17A1
22 focal palmoplantar keratoderma 30.6 KRT17 KRT16
23 palmoplantar keratosis 30.6 PKP1 KRT5 KRT17 KRT16 KRT10 KRT1
24 keratosis 30.5 KRT5 KRT17 KRT16 KRT14 KRT10 KRT1
25 epidermolysis bullosa acquisita 30.5 ITGB4 DST COL7A1 COL17A1
26 bullous skin disease 30.5 PLEC PKP1 DST DSP COL17A1
27 pemphigus vulgaris, familial 30.5 IVL DST DSP COL17A1
28 epidermolysis bullosa junctionalis with pyloric atresia 30.4 PLEC KRT14 ITGB4 GALK1 DST COL17A1
29 epidermolysis bullosa, junctional, non-herlitz type 30.2 PLEC KRT14 ITGB4 GALK1 DST COL7A1
30 contact dermatitis 30.2 KRT16 IVL FLG
31 epidermolysis bullosa dystrophica 30.2 PLEC KRT5 KRT14 KRT1 IVL ITGB4
32 recessive dystrophic epidermolysis bullosa 30.1 KRT1 IVL FLG COL7A1 COL17A1
33 ichthyosis 30.1 KRT5 KRT17 KRT16 KRT10 KRT1 IVL
34 skin disease 30.0 PLEC KRT5 KRT17 KRT16 KRT14 KRT10
35 epidermolytic hyperkeratosis 29.9 PLEC KRT5 KRT17 KRT16 KRT14 KRT10
36 basal cell carcinoma 29.7 KRT5 KRT17 KRT16 KRT14 KRT10 KRT1
37 pachyonychia congenita 1 29.6 TGM5 PLEC KRT5 KRT17 KRT16 KRT14
38 epidermolysis bullosa simplex, ogna type 12.1
39 epidermolysis bullosa simplex with migratory circinate erythema 11.9
40 epidermolysis bullosa simplex, autosomal recessive 2 11.9
41 epidermolysis bullosa simplex, generalized, with scarring and hair loss 11.9
42 epidermolysis bullosa simplex with nail dystrophy 11.8
43 epidermolysa bullosa simplex with muscular dystrophy 11.7
44 epidermolysis bullosa simplex with anodontia/hypodontia 11.6
45 epidermolysis bullosa simplex superficialis 11.5
46 epidermolysis bullosa, nonspecific, autosomal recessive 11.3
47 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.3
48 epidermolysis bullosa simplex without extracutaneous involvement 11.3
49 epidermolysis bullosa, lethal acantholytic 11.3
50 epidermolysis bullosa dystrophica, autosomal dominant 11.3

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex:



Diseases related to Epidermolysis Bullosa Simplex

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex

Human phenotypes related to Epidermolysis Bullosa Simplex:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
2 palmoplantar keratoderma 31 frequent (33%) HP:0000982
3 failure to thrive in infancy 31 frequent (33%) HP:0001531
4 skin ulcer 31 frequent (33%) HP:0200042
5 pyloric stenosis 31 frequent (33%) HP:0002021
6 abnormality of skin pigmentation 31 frequent (33%) HP:0001000
7 dystrophic toenail 31 frequent (33%) HP:0001810
8 dystrophic fingernails 31 frequent (33%) HP:0008391
9 aplasia/hypoplasia of the nails 31 frequent (33%) HP:0008386
10 atypical scarring of skin 31 occasional (7.5%) HP:0000987
11 neoplasm 31 occasional (7.5%) HP:0002664

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 COL7A1 DSP ITGB4 KRT14 KRT16 KRT17
2 digestive/alimentary MP:0005381 9.5 COL7A1 DSP ITGB4 KRT14 KRT16 KRT17
3 integument MP:0010771 9.36 COL7A1 DSP ITGB4 KRT1 KRT14 KRT16

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

Drugs for Epidermolysis Bullosa Simplex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
2
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
3
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
4
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
5
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
6
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
7 Anti-Bacterial Agents Phase 3
8 Anti-Infective Agents Phase 3
9 Gastrointestinal Agents Phase 3
10 Erythromycin Estolate Phase 3
11 Erythromycin stearate Phase 3
12 Erythromycin Ethylsuccinate Phase 3
13 abobotulinumtoxinA Phase 2, Phase 3
14 Anesthetics Phase 2, Phase 3
15 Neurotransmitter Agents Phase 2, Phase 3
16 Anti-Infective Agents, Local Phase 2, Phase 3
17 Cholinergic Agents Phase 2, Phase 3
18 Botulinum Toxins, Type A Phase 2, Phase 3
19
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
20
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
21
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
22 Pharmaceutical Solutions Phase 2
23 Botulinum Toxins Phase 2
24 Sunscreening Agents Phase 2
25 Emollients Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Immunosuppressive Agents Phase 2
28 Immunologic Factors Phase 2
29 Antifungal Agents Phase 2
30 Diacetylrhein Phase 2
31 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
2 Evaluation of the Efficacy of Injections of Botulinic Toxin in Plantar Lesions of Patients Suffering From Localized Epidermolysis Bullosa Simplex : Double Blind Randomized Controlled Study. Recruiting NCT03453632 Phase 2, Phase 3 Botulinic toxin;Placebo
3 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
4 A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS) Unknown status NCT03016715 Phase 2 Sirolimus 2%;Vehicle
5 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
6 An International, Multicenter, Open-label, Long Term Extension Study Evaluating the Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex (EBS) Completed NCT03389308 Phase 2 diacerein 1% ointment
7 A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS) Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
8 An International, Multicenter, Randomized, Double-Blind, Parallel-Group Phase 2 Study Evaluating the Safety and Efficacy of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex Terminated NCT03154333 Phase 2 diacerein 1% ointment;A placebo ointment
9 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
10 A Multi-Center Study to Evaluate the Pharmacokinetics of Diacerein and Rhein and the Safety of Diacerein After Maximum Use, Topical Administration of CCP-020 (Diacerein 1% Ointment) to Patients With Epidermolysis Bullosa (EB) Completed NCT03472287 Phase 1 Diacerein 1% Ointment
11 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
12 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250
13 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa Recruiting NCT04213703
14 Computational Drug Repurposing for All Epidermolysis Bullosa Simplex (EBS) Cases Active, not recruiting NCT03269474

Search NIH Clinical Center for Epidermolysis Bullosa Simplex

Cochrane evidence based reviews: epidermolysis bullosa simplex

Genetic Tests for Epidermolysis Bullosa Simplex

Genetic tests related to Epidermolysis Bullosa Simplex:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex 29

Anatomical Context for Epidermolysis Bullosa Simplex

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

40
Skin, Skeletal Muscle, Tongue, Bone Marrow, Bone, Heart, Thyroid

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 646)
# Title Authors PMID Year
1
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. 61 54 6 25
17039244 2007
2
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 61 54 25 6
16882168 2006
3
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 61 25 6 54
9036937 1997
4
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 61 25 6
20199538 2010
5
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 61 6 25
11851880 2002
6
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. 61 6 54
20151404 2010
7
Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. 54 6 61
18384561 2008
8
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 6 25
16465624 2006
9
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. 54 61 6
12925204 2003
10
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 6 61 54
11407988 2001
11
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5. 54 61 6
8595431 1995
12
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6 61
23289980 2013
13
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 61 6
21623745 2011
14
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. 6 61
17855059 2007
15
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. 54 61 25
17229601 2006
16
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. 61 54 25
16960809 2006
17
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 61 25 54
16786515 2006
18
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. 61 54 25
16581562 2006
19
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. 25 54 61
16098032 2005
20
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. 25 61 54
15982306 2005
21
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). 61 54 25
15681471 2005
22
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. 25 54 61
15324323 2004
23
Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases. 61 54 25
15215887 2004
24
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. 25 61 54
15030360 2004
25
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. 61 54 25
14962092 2004
26
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. 61 6
11973334 2002
27
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. 61 54 25
10494094 1999
28
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote. 25 54 61
9284105 1997
29
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 6 61
8799157 1996
30
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. 6 61
8601736 1996
31
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 61 54 25
7534039 1995
32
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 61 6
7686424 1993
33
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 6 61
1717157 1991
34
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. 61 25
27384765 2016
35
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic. 6
26707537 2016
36
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. 61 25
25601422 2015
37
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. 61 25
24628291 2014
38
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. 25 61
23774525 2014
39
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. 61 25
22113475 2012
40
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. 61 25
21716320 2011
41
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. 61 25
21375516 2011
42
Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. 25 61
20618323 2010
43
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 61 25
20164846 2010
44
Ectodermal dysplasia-skin fragility syndrome. 25 61
19945625 2010
45
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
20108434 2010
46
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. 25 61
19153338 2009
47
Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara. 25 61
17707151 2007
48
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. 61 25
16601668 2006
49
A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex. 25 61
15654986 2005
50
The keratins and their disorders. 25 61
15452838 2004

Variations for Epidermolysis Bullosa Simplex

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) SNV Pathogenic 14648 rs57499817 GRCh37: 12:52914007-52914007
GRCh38: 12:52520223-52520223
2 KRT5 NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) SNV Pathogenic 66246 rs267607456 GRCh37: 12:52913586-52913586
GRCh38: 12:52519802-52519802
3 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic 14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
4 KRT5 NM_000424.4(KRT5):c.556-16C>G SNV Pathogenic 1047955 GRCh37: 12:52912960-52912960
GRCh38: 12:52519176-52519176
5 KRT5 NM_000424.4(KRT5):c.556G>A (p.Val186Met) SNV Pathogenic 66267 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
6 KRT5 NM_000424.4(KRT5):c.556G>T (p.Val186Leu) SNV Pathogenic 14652 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
7 KRT5 NM_000424.4(KRT5):c.557T>A (p.Val186Glu) SNV Pathogenic 66268 rs267607457 GRCh37: 12:52912943-52912943
GRCh38: 12:52519159-52519159
8 KRT5 NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) SNV Pathogenic 1047987 GRCh37: 12:52912929-52912929
GRCh38: 12:52519145-52519145
9 KRT5 NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) SNV Pathogenic 14644 rs60586163 GRCh37: 12:52912921-52912921
GRCh38: 12:52519137-52519137
10 KRT5 NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) SNV Pathogenic 1047988 GRCh37: 12:52912913-52912913
GRCh38: 12:52519129-52519129
11 KRT5 NM_000424.4(KRT5):c.771delG Deletion Pathogenic 1047989 GRCh37: 12:52911947-52911947
GRCh38: 12:52518163-52518163
12 KRT5 NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) SNV Pathogenic 1047990 GRCh37: 12:52911505-52911505
GRCh38: 12:52517721-52517721
13 KRT5 NM_000424.4(KRT5):c.983A>T (p.Asp328Val) SNV Pathogenic 66293 rs57142010 GRCh37: 12:52911483-52911483
GRCh38: 12:52517699-52517699
14 KRT5 NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) SNV Pathogenic 66202 rs267607458 GRCh37: 12:52910578-52910578
GRCh38: 12:52516794-52516794
15 KRT5 NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) SNV Pathogenic 66203 rs59243757 GRCh37: 12:52910577-52910577
GRCh38: 12:52516793-52516793
16 KRT5 NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) SNV Pathogenic 14639 rs57599352 GRCh37: 12:52910472-52910472
GRCh38: 12:52516688-52516688
17 KRT5 NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) SNV Pathogenic 1047991 GRCh37: 12:52910464-52910464
GRCh38: 12:52516680-52516680
18 KRT5 NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) SNV Pathogenic 66208 rs62642056 GRCh37: 12:52910462-52910462
GRCh38: 12:52516678-52516678
19 KRT5 NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) SNV Pathogenic 1047992 GRCh37: 12:52910454-52910454
GRCh38: 12:52516670-52516670
20 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic 21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
21 KRT5 NM_000424.4(KRT5):c.1649del (p.Gly550fs) Deletion Pathogenic 14655 rs61126080 GRCh37: 12:52908850-52908850
GRCh38: 12:52515066-52515066
22 KRT14 NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) SNV Pathogenic 66339 rs60338701 GRCh37: 17:39742741-39742741
GRCh38: 17:41586489-41586489
23 KRT14 NM_000526.5(KRT14):c.397G>T (p.Val133Leu) SNV Pathogenic 66358 rs61027685 GRCh37: 17:39742690-39742690
GRCh38: 17:41586438-41586438
24 KRT14 NM_000526.5(KRT14):c.749del (p.Lys250fs) Deletion Pathogenic 66375 rs267607406 GRCh37: 17:39740525-39740525
GRCh38: 17:41584273-41584273
25 KRT14 NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) SNV Pathogenic 1048024 GRCh37: 17:39739617-39739617
GRCh38: 17:41583365-41583365
26 KRT14 NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) SNV Pathogenic 1048025 GRCh37: 17:39739556-39739556
GRCh38: 17:41583304-41583304
27 KRT14 NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) SNV Pathogenic 1048026 GRCh37: 17:39739538-39739538
GRCh38: 17:41583286-41583286
28 KRT14 NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) Deletion Pathogenic 66316 rs267607389 GRCh37: 17:39739528-39739530
GRCh38: 17:41583276-41583278
29 KRT14 NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) SNV Pathogenic 66322 rs59442925 GRCh37: 17:39739517-39739517
GRCh38: 17:41583265-41583265
30 KRT14 NM_000526.5(KRT14):c.1274+5G>C SNV Pathogenic 1048027 GRCh37: 17:39739482-39739482
GRCh38: 17:41583230-41583230
31 PLEC NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) SNV Pathogenic 1048028 GRCh37: 8:145001240-145001240
GRCh38: 8:143927072-143927072
32 PLEC NM_201384.3(PLEC):c.5663del (p.Lys1888fs) Deletion Pathogenic 1048029 GRCh37: 8:144998434-144998434
GRCh38: 8:143924266-143924266
33 PLEC NM_201384.3(PLEC):c.9294del (p.Glu3099fs) Deletion Pathogenic 1048030 GRCh37: 8:144994695-144994695
GRCh38: 8:143920527-143920527
34 KRT14 NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) SNV Pathogenic 66353 rs60470268 GRCh37: 17:39742702-39742702
GRCh38: 17:41586450-41586450
35 KRT14 NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) SNV Pathogenic 14612 rs60399023 GRCh37: 17:39742714-39742714
GRCh38: 17:41586462-41586462
36 KRT5 NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) Deletion Likely pathogenic 623145 rs1565593355 GRCh37: 12:52911901-52911901
GRCh38: 12:52518117-52518117
37 KRT5 NM_000424.4(KRT5):c.*334A>G SNV Uncertain significance 880775 GRCh37: 12:52908392-52908392
GRCh38: 12:52514608-52514608
38 KRT5 NM_000424.4(KRT5):c.1118G>C (p.Gly373Ala) SNV Uncertain significance 309562 rs561738497 GRCh37: 12:52910991-52910991
GRCh38: 12:52517207-52517207
39 KRT5 NM_000424.4(KRT5):c.78T>G (p.Ser26=) SNV Uncertain significance 880894 GRCh37: 12:52914003-52914003
GRCh38: 12:52520219-52520219
40 KRT5 NM_000424.4(KRT5):c.72C>A (p.Thr24=) SNV Uncertain significance 880895 GRCh37: 12:52914009-52914009
GRCh38: 12:52520225-52520225
41 KRT5 NM_000424.4(KRT5):c.1575C>T (p.Ala525=) SNV Uncertain significance 309556 rs202104381 GRCh37: 12:52908924-52908924
GRCh38: 12:52515140-52515140
42 KRT5 NM_000424.4(KRT5):c.*134A>G SNV Uncertain significance 309552 rs568942940 GRCh37: 12:52908592-52908592
GRCh38: 12:52514808-52514808
43 KRT5 NM_000424.4(KRT5):c.-7A>C SNV Uncertain significance 880896 GRCh37: 12:52914087-52914087
GRCh38: 12:52520303-52520303
44 KRT5 NM_000424.4(KRT5):c.*271C>T SNV Uncertain significance 882167 GRCh37: 12:52908455-52908455
GRCh38: 12:52514671-52514671
45 KRT5 NM_000424.4(KRT5):c.*232T>C SNV Uncertain significance 882168 GRCh37: 12:52908494-52908494
GRCh38: 12:52514710-52514710
46 KRT5 NM_000424.4(KRT5):c.556-4C>A SNV Uncertain significance 882223 GRCh37: 12:52912948-52912948
GRCh38: 12:52519164-52519164
47 KRT5 NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln) SNV Uncertain significance 882418 GRCh37: 12:52908823-52908823
GRCh38: 12:52515039-52515039
48 KRT5 NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser) SNV Uncertain significance 882419 GRCh37: 12:52908878-52908878
GRCh38: 12:52515094-52515094
49 KRT5 NM_000424.4(KRT5):c.364G>A (p.Gly122Ser) SNV Uncertain significance 882467 GRCh37: 12:52913717-52913717
GRCh38: 12:52519933-52519933
50 KRT5 NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys) SNV Uncertain significance 66213 rs267607448 GRCh37: 12:52910449-52910449
GRCh38: 12:52516665-52516665

Expression for Epidermolysis Bullosa Simplex

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex.

Pathways for Epidermolysis Bullosa Simplex

Pathways related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 TGM5 PKP1 KRT5 KRT17 KRT16 KRT14
2
Show member pathways
12.53 PLEC ITGB4 DST COL7A1 COL17A1
3
Show member pathways
12.37 PLEC ITGB4 DST COL7A1 COL17A1
4 12.25 PLEC KRT5 KRT17 KRT10
5
Show member pathways
11.82 TGM5 PKP1 KRT5 KRT17 KRT16 KRT14
6 11.76 PLEC ITGB4 DSP
7
Show member pathways
11.72 PLEC PKP1 DSP
8
Show member pathways
11.64 PLEC PKP1 KRT5 KRT17 KRT16 KRT14
9 11.58 KRT14 KRT1 IVL
10 11.54 KRT17 KRT16 KRT14 KRT10
11 11.46 KRT5 KRT17 KRT14

GO Terms for Epidermolysis Bullosa Simplex

Cellular components related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.07 PLEC KRT5 KRT16 KRT14 KRT10 KRT1
2 cell junction GO:0030054 9.95 PLEC PKP1 KLHL24 ITGB4 DST DSP
3 keratin filament GO:0045095 9.61 KRT5 KRT14 KRT1
4 basement membrane GO:0005604 9.56 ITGB4 DST COL7A1 COL17A1
5 desmosome GO:0030057 9.5 PKP1 KLHL24 DSP
6 hemidesmosome GO:0030056 9.46 PLEC ITGB4 DST COL17A1
7 cornified envelope GO:0001533 9.43 PKP1 KRT10 KRT1 IVL FLG DSP
8 intermediate filament GO:0005882 9.4 PLEC PKP1 KRT5 KRT17 KRT16 KRT14

Biological processes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.85 TGM5 KRT5 KRT14 DSP COL7A1 COL17A1
2 keratinization GO:0031424 9.81 PKP1 KRT5 KRT17 KRT16 KRT14 KRT10
3 keratinocyte differentiation GO:0030216 9.8 KRT16 KRT10 IVL FLG DSP
4 cytoskeleton organization GO:0007010 9.78 KRT5 KRT16 DST BFSP2
5 intermediate filament organization GO:0045109 9.73 KRT17 KLHL24 DSP BFSP2
6 peptide cross-linking GO:0018149 9.73 TGM5 KRT10 KRT1 IVL FLG DSP
7 intermediate filament cytoskeleton organization GO:0045104 9.72 PLEC KRT16 DST DSP BFSP2
8 wound healing GO:0042060 9.7 PLEC DST DSP
9 establishment of skin barrier GO:0061436 9.63 KRT16 KRT1 FLG
10 morphogenesis of an epithelium GO:0002009 9.55 KRT17 KRT16
11 hair cycle GO:0042633 9.54 KRT16 KRT14
12 protein heterotetramerization GO:0051290 9.51 KRT10 KRT1
13 intermediate filament bundle assembly GO:0045110 9.49 PKP1 KRT14
14 hemidesmosome assembly GO:0031581 9.43 PLEC KRT5 KRT14 ITGB4 DST COL17A1
15 cornification GO:0070268 9.36 TGM5 PKP1 KRT5 KRT17 KRT16 KRT14

Molecular functions related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TGM5 PLEC PKP1 KRT5 KRT17 KRT16
2 structural constituent of epidermis GO:0030280 9.46 PKP1 KRT10 KRT1 FLG
3 structural constituent of cytoskeleton GO:0005200 9.43 PLEC KRT5 KRT16 KRT14 DSP BFSP2
4 structural molecule activity GO:0005198 9.28 PLEC KRT17 KRT16 KRT14 KRT10 FLG

Sources for Epidermolysis Bullosa Simplex

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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