EBS
MCID: EPD003
MIFTS: 54

Epidermolysis Bullosa Simplex (EBS)

Categories: Genetic diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Epidermolysis Bullosa Simplex

MalaCards integrated aliases for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 11 24 19 42 58 28 53 5 43 14 71 75 31 33
Ebs 42 58
Epidermolysis Bullosa Intraepidermic 19
Epidermolytic Epidermolysis Bullosa 33

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/1000000 (Worldwide, Australia, Romania) 1-9/100000 (Netherlands) 58

Age Of Onset:

Adolescent,Childhood,Infancy,Neonatal 58

Age Of Death:

adolescent,early childhood,infantile,late childhood,normal life expectancy,stillbirth 58

GeneReviews:

24
Penetrance Penetrance is 100% for biallelic krt5 and krt14 loss-of-function variants but appears to be less than 100% for heterozygous dominant-negative variants, as rare heterozygotes for dominant-negative variants are asymptomatic [wertheim-tysarowska et al 2016]. heterozygous pathogenic variants in plec and klhl24 and biallelic pathogenic variants in cd151, dst, exph5, and plec are presumed to be fully penetrant as asymptomatic individuals have not been reported to date.

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:4644
MeSH 43 D016110
NCIt 49 C84692
SNOMED-CT 68 205585003
ICD10 31 Q81.0
ICD10 via Orphanet 32 Q81.0
UMLS via Orphanet 72 C0079298
Orphanet 58 ORPHA304
ICD11 33 1860717527
UMLS 71 C0079298

Summaries for Epidermolysis Bullosa Simplex

MedlinePlus Genetics: 42 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 1b, generalized intermediate and epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive. An important gene associated with Epidermolysis Bullosa Simplex is KRT5 (Keratin 5), and among its related pathways/superpathways are Nervous system development and Collagen chain trimerization. The drugs Erythromycin and Prilocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and bone marrow, and related phenotypes are growth/size/body region and digestive/alimentary

GARD: 19 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. 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 genetic changes in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases.

Disease Ontology: 11 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.

Orphanet: 58 A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.

Wikipedia: 75 Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin... more...

GeneReviews: NBK1369

Related Diseases for Epidermolysis Bullosa Simplex

Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex 1c, Localized Epidermolysis Bullosa Simplex 2c, Localized
Epidermolysis Bullosa Simplex Localized Type

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

(show top 50) (show all 304)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex 1b, generalized intermediate 33.7 KRT5 KRT14
2 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive 33.6 KRT5 KRT14
3 epidermolysis bullosa simplex 5c, with pyloric atresia 33.6 PLEC ITGB4
4 epidermolysis bullosa simplex 5b, with muscular dystrophy 33.6 PLEC DST
5 epidermolysis bullosa simplex 2f, with mottled pigmentation 33.6 PLEC KRT5 KRT14 KRT1 EXPH5
6 epidermolysis bullosa simplex 1c, localized 33.5 KRT5 KRT14 ITGB4
7 epidermolysis bullosa simplex generalized type 33.5 PLEC KRT5 KRT14 KLHL24 COL17A1
8 epidermolysis bullosa simplex 1a, generalized severe 33.4 TGM5 PLEC KRT5 KRT14 KRT10 KLHL24
9 epidermolysis bullosa simplex localized type 33.2 PLEC KRT5 KRT17 KRT16 KRT14 KRT10
10 epidermolysis bullosa, junctional 5b, with pyloric atresia 31.9 PLEC LAMA3 KRT5 KRT14 ITGB4 DST
11 pyloric atresia 31.6 PLEC ITGB4 COL17A1
12 autosomal dominant epidermolytic ichthyosis 31.4 KRT10 KRT1
13 epidermolysis bullosa with pyloric atresia 31.4 PLEC ITGB4
14 pemphigoid 31.2 PLEC LAMA3 ITGB4 DST COL17A1
15 epidermolysis bullosa 31.1 TGM5 PLEC LAMA3 KRT5 KRT17 KRT16
16 palmoplantar keratosis 31.1 KRT5 KRT17 KRT16 KRT10 KRT1
17 alopecia 31.1 KRT15 KRT14 FLG
18 aplasia cutis congenita 30.9 PLEC ITGB4
19 bullous pemphigoid 30.9 PLEC LAMA3 KRT5 KRT14 IVL ITGB4
20 scabies 30.9 FLG DST COL17A1
21 ichthyosis bullosa of siemens 30.7 KRT10 KRT1
22 focal palmoplantar keratoderma 30.7 KRT17 KRT16
23 pemphigoid gestationis 30.6 DST COL17A1
24 pemphigus vulgaris, familial 30.6 IVL DST COL17A1
25 skin disease 30.6 PLEC LAMA3 KRT5 KRT17 KRT16 KRT14
26 epidermolysis bullosa, junctional 1a, intermediate 30.6 LAMA3 ITGB4 COL17A1
27 keratosis 30.5 KRT5 KRT17 KRT16 KRT14 KRT10 KRT1
28 ichthyosis 30.5 TGM5 KRT5 KRT16 KRT10 KRT1 IVL
29 epidermolytic hyperkeratosis 30.4 PLEC KRT5 KRT17 KRT16 KRT15 KRT14
30 verrucous carcinoma 30.4 KRT5 KRT14
31 contact dermatitis 30.4 KRT17 KRT16 IVL FLG
32 epidermolysis bullosa acquisita 30.4 LAMA3 ITGB4 DST COL7A1 COL17A1
33 kindler syndrome 30.3 PLEC LAMA3 KRT15 ITGB4 DST COL7A1
34 junctional epidermolysis bullosa 30.3 KRT5 KRT14 KRT10 KRT1 ITGB4 EXPH5
35 junctional epidermolysis bullosa non-herlitz type 30.2 PLEC LAMA3 KRT14 ITGB4 DST COL7A1
36 epidermolysis bullosa dystrophica 30.1 PLEC LAMA3 KRT5 KRT14 KRT1 IVL
37 autosomal recessive congenital ichthyosis 30.1 TGM5 KRT16 KRT14 KRT10 KRT1 IVL
38 bullous skin disease 30.0 PLEC LAMA3 KRT5 KRT14 KLHL24 ITGB4
39 transient bullous dermolysis of the newborn 30.0 PLEC LAMA3 KRT5 KRT14 KLHL24 EXPH5
40 basal cell carcinoma 30.0 KRT5 KRT17 KRT16 KRT15 KRT14 KRT10
41 recessive dystrophic epidermolysis bullosa 29.8 PLEC LAMA3 KRT15 KRT14 KRT10 KRT1
42 pachyonychia congenita 1 29.7 TGM5 PLEC KRT5 KRT17 KRT16 KRT14
43 epidermolysis bullosa simplex 5a, ogna type 12.1
44 epidermolysis bullosa simplex 2e, with migratory circinate erythema 12.0
45 epidermolysis bullosa simplex 2c, localized 11.9
46 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency 11.9
47 epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive 11.9
48 epidermolysis bullosa simplex 2a, generalized severe 11.9
49 epidermolysis bullosa simplex 2b, generalized intermediate 11.9
50 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 11.9

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



Diseases related to Epidermolysis Bullosa Simplex

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CD151 COL17A1 COL7A1 DST ITGB4 IVL
2 digestive/alimentary MP:0005381 9.97 COL7A1 DST ITGB4 KRT14 KRT15 KRT16
3 immune system MP:0005387 9.93 CD151 COL17A1 COL7A1 DST EXPH5 ITGB4
4 craniofacial MP:0005382 9.91 COL7A1 DST ITGB4 KRT10 KRT14 KRT16
5 pigmentation MP:0001186 9.8 COL17A1 DST KRT1 KRT14 KRT17
6 mortality/aging MP:0010768 9.8 CD151 COL17A1 COL7A1 DST ITGB4 KRT1
7 integument MP:0010771 9.47 CD151 COL17A1 COL7A1 DST ITGB4 KRT1

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 55-31-2, 114-07-8 12560
2
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
3
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
4
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
5
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
6
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
7 Anti-Infective Agents Phase 3
8 Anti-Bacterial Agents Phase 3
9 Gastrointestinal Agents Phase 3
10 Erythromycin stearate Phase 3
11 Erythromycin Ethylsuccinate Phase 3
12 Erythromycin Estolate Phase 3
13 Cholinergic Agents Phase 2, Phase 3
14
abobotulinumtoxinA Phase 2, Phase 3
15 Botulinum Toxins, Type A Phase 2, Phase 3
16 Anesthetics Phase 2, Phase 3
17 Anti-Infective Agents, Local Phase 2, Phase 3
18 Neurotransmitter Agents Phase 2, Phase 3
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
21
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
22 Botulinum Toxins Phase 2
23 Pharmaceutical Solutions Phase 2
24 Antifungal Agents Phase 2
25 Immunosuppressive Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Immunologic Factors Phase 2
28 Sunscreening Agents Phase 2
29 Emollients Phase 2
30 Anti-Inflammatory Agents Phase 2
31 Diacetylrhein Phase 2
32
Epitestosterone Approved, Experimental, Investigational 481-30-1, 58-22-0 5408 10204 6013
33
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
34
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
35
Polyestradiol phosphate Approved 28014-46-2
36
Hydrocortisone succinate Approved 2203-97-6 3643
37
Hydrocortisone acetate Approved, Vet_approved 50-03-3
38
Prasterone Approved, Investigational, Nutraceutical 53-43-0 5881
39 Follicle Stimulating Hormone
40 17 alpha-Hydroxyprogesterone Caproate
41 11-hydroxyprogesterone
42
Insulin
43 Hormones
44 Estradiol 3-benzoate
45 Estradiol 17 beta-cypionate
46 Hormone Antagonists
47 Hydrocortisone 17-butyrate 21-propionate
48 Insulin, Globin Zinc
49 DHEA (Dehydroepiandrosterone)

Interventional clinical trials:

(show all 17)
# 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 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
4 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
5 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream
6 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) Completed NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
7 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
8 A Randomised, Double-Blind, Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa Recruiting NCT04908215 Phase 2 INM-755 (cannabinol) cream;Vehicle Cream
9 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
10 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
11 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
12 A Phase I/II, Closed Label, Randomized, Pilot Study for the Safety and Efficacy of TolaSure Gel, 5% w/w Targeting Aggregated Mutant Keratin in Severe Epidermolysis Bullosa Simplex (TAMES) Recruiting NCT05062070 Phase 1 TolaSure Topical Gel;Vehicle Topical Gel
13 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
14 Computational Drug Repurposing for All Epidermolysis Bullosa Simplex (EBS) Cases Recruiting NCT03269474
15 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250
16 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa Recruiting NCT04213703
17 The State of Sexual Development in Children With Inherited Epidermolysis Bullosa Active, not recruiting NCT05033574

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 28

Anatomical Context for Epidermolysis Bullosa Simplex

Organs/tissues related to Epidermolysis Bullosa Simplex:

MalaCards : Skin, Skeletal Muscle, Bone Marrow, Tongue, Heart, Thyroid, Breast

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 737)
# Title Authors PMID Year
1
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 53 62 24 5
9036937 1997
2
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 62 24 5
23289980 2013
3
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 62 24 5
21623745 2011
4
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 62 24 5
20199538 2010
5
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 62 24 5
11851880 2002
6
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. 53 62 5
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. 53 62 5
18384561 2008
8
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. 53 62 5
17039244 2007
9
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 53 62 5
16882168 2006
10
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. 53 62 5
12925204 2003
11
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 53 62 5
11407988 2001
12
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5. 53 62 5
8595431 1995
13
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 53 62 24
20016501 2010
14
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14. 53 62 24
18713255 2008
15
5' trans-splicing repair of the PLEC1 gene. 53 62 24
17989727 2008
16
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. 62 5
17855059 2007
17
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. 53 62 24
17229601 2006
18
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 53 62 24
16786515 2006
19
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. 53 62 24
16581562 2006
20
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. 53 62 24
16098032 2005
21
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. 53 62 24
15982306 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. 53 62 24
15324323 2004
23
Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases. 53 62 24
15215887 2004
24
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. 53 62 24
14962092 2004
25
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. 62 5
11973334 2002
26
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. 53 62 24
10494094 1999
27
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 62 5
8799157 1996
28
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. 62 5
8601736 1996
29
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 62 5
7686424 1993
30
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 62 5
1717157 1991
31
Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex. 62 24
35490743 2022
32
Detection and characterization of low-level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases. 62 24
35191026 2022
33
A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. 62 24
35841105 2022
34
Expanding the spectrum of epidermolysis bullosa simplex: Syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect-a case report and review of the literature. 62 24
35519797 2022
35
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants. 62 24
35234827 2022
36
Transcriptomic Repositioning Analysis Identifies mTOR Inhibitor as Potential Therapy for Epidermolysis Bullosa Simplex. 62 24
34536484 2022
37
Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study. 62 24
33960018 2021
38
Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care. 62 24
34116697 2021
39
Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature. 62 24
33471381 2021
40
Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review. 62 24
32176379 2020
41
Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex. 62 24
31919841 2020
42
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema. 62 24
31965605 2020
43
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out". 62 24
31302245 2019
44
Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy. 62 24
31649980 2019
45
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex. 62 24
31312705 2019
46
Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency. 62 24
30880037 2019
47
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. 62 24
29932457 2019
48
An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex. 62 24
30099737 2019
49
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. 62 24
30120936 2019
50
KLHL24: Beyond Skin Fragility. 62 24
30579426 2019

Variations for Epidermolysis Bullosa Simplex

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex:

5 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) SNV Pathogenic
66246 rs267607456 GRCh37: 12:52913586-52913586
GRCh38: 12:52519802-52519802
2 KRT5 NM_000424.4(KRT5):c.556-16C>G SNV Pathogenic
1047955 rs376462752 GRCh37: 12:52912960-52912960
GRCh38: 12:52519176-52519176
3 KRT5 NM_000424.4(KRT5):c.557T>A (p.Val186Glu) SNV Pathogenic
66268 rs267607457 GRCh37: 12:52912943-52912943
GRCh38: 12:52519159-52519159
4 KRT5 NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) SNV Pathogenic
1047987 rs1938667202 GRCh37: 12:52912929-52912929
GRCh38: 12:52519145-52519145
5 KRT5 NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) SNV Pathogenic
1047988 rs1938666838 GRCh37: 12:52912913-52912913
GRCh38: 12:52519129-52519129
6 KRT5 NM_000424.4(KRT5):c.771delG DEL Pathogenic
1047989 rs1938645889 GRCh37: 12:52911947-52911947
GRCh38: 12:52518163-52518163
7 KRT5 NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) SNV Pathogenic
1047990 rs1938635857 GRCh37: 12:52911505-52911505
GRCh38: 12:52517721-52517721
8 KRT5 NM_000424.4(KRT5):c.983A>T (p.Asp328Val) SNV Pathogenic
66293 rs57142010 GRCh37: 12:52911483-52911483
GRCh38: 12:52517699-52517699
9 KRT5 NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) SNV Pathogenic
66202 rs267607458 GRCh37: 12:52910578-52910578
GRCh38: 12:52516794-52516794
10 KRT5 NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) SNV Pathogenic
66203 rs59243757 GRCh37: 12:52910577-52910577
GRCh38: 12:52516793-52516793
11 KRT5 NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) SNV Pathogenic
1047991 rs1938615785 GRCh37: 12:52910464-52910464
GRCh38: 12:52516680-52516680
12 KRT5 NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) SNV Pathogenic
1047992 rs1264710617 GRCh37: 12:52910454-52910454
GRCh38: 12:52516670-52516670
13 KRT14 NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) SNV Pathogenic
66339 rs60338701 GRCh37: 17:39742741-39742741
GRCh38: 17:41586489-41586489
14 KRT14 NM_000526.5(KRT14):c.397G>T (p.Val133Leu) SNV Pathogenic
66358 rs61027685 GRCh37: 17:39742690-39742690
GRCh38: 17:41586438-41586438
15 KRT14 NM_000526.5(KRT14):c.749del (p.Lys250fs) DEL Pathogenic
66375 rs267607406 GRCh37: 17:39740525-39740525
GRCh38: 17:41584273-41584273
16 KRT14 NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) SNV Pathogenic
1048024 rs773920224 GRCh37: 17:39739617-39739617
GRCh38: 17:41583365-41583365
17 KRT14 NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) SNV Pathogenic
1048025 rs1907401835 GRCh37: 17:39739556-39739556
GRCh38: 17:41583304-41583304
18 KRT14 NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) SNV Pathogenic
1048026 rs1907400034 GRCh37: 17:39739538-39739538
GRCh38: 17:41583286-41583286
19 KRT14 NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) DEL Pathogenic
66316 rs267607389 GRCh37: 17:39739528-39739530
GRCh38: 17:41583276-41583278
20 KRT14 NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) SNV Pathogenic
66322 rs59442925 GRCh37: 17:39739517-39739517
GRCh38: 17:41583265-41583265
21 KRT14 NM_000526.5(KRT14):c.1274+5G>C SNV Pathogenic
1048027 rs1907395416 GRCh37: 17:39739482-39739482
GRCh38: 17:41583230-41583230
22 KRT14 NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) SNV Pathogenic
66353 rs60470268 GRCh37: 17:39742702-39742702
GRCh38: 17:41586450-41586450
23 KRT5 NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) SNV Pathogenic
66208 rs62642056 GRCh37: 12:52910462-52910462
GRCh38: 12:52516678-52516678
24 PLEC NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) SNV Pathogenic
1048028 rs782169513 GRCh37: 8:145001240-145001240
GRCh38: 8:143927072-143927072
25 PLEC NM_201384.3(PLEC):c.5663del (p.Lys1888fs) DEL Pathogenic
1048029 rs1824069966 GRCh37: 8:144998434-144998434
GRCh38: 8:143924266-143924266
26 PLEC NM_201384.3(PLEC):c.9294del (p.Glu3099fs) DEL Pathogenic
1048030 rs1822243280 GRCh37: 8:144994695-144994695
GRCh38: 8:143920527-143920527
27 KRT5 NM_000424.4(KRT5):c.556G>A (p.Val186Met) SNV Pathogenic
Pathogenic
66267 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
28 KRT14 NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) SNV Pathogenic
14612 rs60399023 GRCh37: 17:39742714-39742714
GRCh38: 17:41586462-41586462
29 KRT5 NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) SNV Pathogenic
14648 rs57499817 GRCh37: 12:52914007-52914007
GRCh38: 12:52520223-52520223
30 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic
14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
31 KRT5 NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) SNV Pathogenic
14644 rs60586163 GRCh37: 12:52912921-52912921
GRCh38: 12:52519137-52519137
32 KRT5 NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) SNV Pathogenic
14639 rs57599352 GRCh37: 12:52910472-52910472
GRCh38: 12:52516688-52516688
33 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic
21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
34 KRT5 NM_000424.4(KRT5):c.1649del (p.Gly550fs) DEL Pathogenic
14655 rs61126080 GRCh37: 12:52908850-52908850
GRCh38: 12:52515066-52515066
35 KRT5 NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) DEL Likely Pathogenic
623145 rs1565593355 GRCh37: 12:52911901-52911901
GRCh38: 12:52518117-52518117
36 KRT5 NM_000424.4(KRT5):c.*334A>G SNV Uncertain Significance
880775 rs958335838 GRCh37: 12:52908392-52908392
GRCh38: 12:52514608-52514608
37 KRT5 NM_000424.4(KRT5):c.78T>G (p.Ser26=) SNV Uncertain Significance
880894 rs1047343874 GRCh37: 12:52914003-52914003
GRCh38: 12:52520219-52520219
38 KRT5 NM_000424.4(KRT5):c.72C>A (p.Thr24=) SNV Uncertain Significance
880895 rs749195594 GRCh37: 12:52914009-52914009
GRCh38: 12:52520225-52520225
39 KRT5 NM_000424.4(KRT5):c.-7A>C SNV Uncertain Significance
880896 rs1938697448 GRCh37: 12:52914087-52914087
GRCh38: 12:52520303-52520303
40 KRT5 NM_000424.4(KRT5):c.*271C>T SNV Uncertain Significance
882167 rs942362509 GRCh37: 12:52908455-52908455
GRCh38: 12:52514671-52514671
41 KRT5 NM_000424.4(KRT5):c.*232T>C SNV Uncertain Significance
882168 rs761866506 GRCh37: 12:52908494-52908494
GRCh38: 12:52514710-52514710
42 KRT5 NM_000424.4(KRT5):c.556-4C>A SNV Uncertain Significance
882223 rs1938667889 GRCh37: 12:52912948-52912948
GRCh38: 12:52519164-52519164
43 KRT5 NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln) SNV Uncertain Significance
882418 rs182482982 GRCh37: 12:52908823-52908823
GRCh38: 12:52515039-52515039
44 KRT5 NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser) SNV Uncertain Significance
882419 rs200216169 GRCh37: 12:52908878-52908878
GRCh38: 12:52515094-52515094
45 KRT5 NM_000424.4(KRT5):c.364G>A (p.Gly122Ser) SNV Uncertain Significance
882467 rs781712315 GRCh37: 12:52913717-52913717
GRCh38: 12:52519933-52519933
46 KRT5 NM_000424.4(KRT5):c.1344G>A (p.Arg448=) SNV Uncertain Significance
884125 rs1199438663 GRCh37: 12:52910516-52910516
GRCh38: 12:52516732-52516732
47 KRT5 NM_000424.4(KRT5):c.1263G>A (p.Gly421=) SNV Uncertain Significance
884126 rs151313162 GRCh37: 12:52910597-52910597
GRCh38: 12:52516813-52516813
48 KRT5 NM_000424.4(KRT5):c.1244C>T (p.Ala415Val) SNV Uncertain Significance
884127 rs1938619348 GRCh37: 12:52910616-52910616
GRCh38: 12:52516832-52516832
49 KRT5 NM_000424.4(KRT5):c.249C>T (p.Phe83=) SNV Uncertain Significance
884175 rs780670406 GRCh37: 12:52913832-52913832
GRCh38: 12:52520048-52520048
50 KRT5 NM_000424.4(KRT5):c.247T>C (p.Phe83Leu) SNV Uncertain Significance
884176 rs1372929067 GRCh37: 12:52913834-52913834
GRCh38: 12:52520050-52520050

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 TGM5 KRT5 KRT17 KRT16 KRT15 KRT14
2
Show member pathways
12.57 CD151 COL17A1 COL7A1 DST ITGB4 LAMA3
3
Show member pathways
12.44 PLEC LAMA3 ITGB4 DST COL7A1 COL17A1
4 12.29 PLEC KRT5 KRT17 KRT10 CD151
5
Show member pathways
12.19 PLEC KRT5 KRT17 KRT16 KRT14 KRT1
6
Show member pathways
12.17 PLEC LAMA3 KRT5 KRT14 ITGB4 DST
7
Show member pathways
11.86 TGM5 KRT5 KRT17 KRT16 KRT15 KRT14
8 11.78 PLEC ITGB4 CD151
9 11.63 KRT14 KRT1 IVL
10 11.54 KRT5 KRT17 KRT14
11 11.2 LAMA3 ITGB4 COL17A1
12 11.15 LAMA3 IVL ITGB4

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 cytoskeleton GO:0005856 10.27 BFSP2 DST KRT1 KRT10 KRT14 KRT15
2 collagen-containing extracellular matrix GO:0062023 10.13 LAMA3 KRT1 FLG COL7A1 COL17A1
3 basement membrane GO:0005604 10.03 CD151 COL17A1 COL7A1 DST ITGB4 LAMA3
4 keratin filament GO:0045095 10.02 KRT5 KRT17 KRT14 KRT10 KRT1
5 cornified envelope GO:0001533 10 KRT17 KRT16 KRT14 KRT10 KRT1 IVL
6 anchoring junction GO:0070161 9.8 PLEC KLHL24 ITGB4 DST COL17A1
7 hemidesmosome GO:0030056 9.65 COL17A1 DST ITGB4 LAMA3 PLEC
8 intermediate filament GO:0005882 9.58 PLEC KRT5 KRT17 KRT16 KRT15 KRT14

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 epithelial cell differentiation GO:0030855 10.16 KRT17 KRT16 KRT15 KRT14 KRT10
2 keratinization GO:0031424 10.1 KRT5 KRT17 KRT16 KRT1 IVL
3 epidermis development GO:0008544 10.06 COL17A1 COL7A1 KRT10 KRT14 KRT15 KRT5
4 establishment of skin barrier GO:0061436 10.03 FLG KRT1 KRT16 PLEC
5 peptide cross-linking GO:0018149 10.02 FLG IVL KRT1 KRT10 TGM5
6 keratinocyte differentiation GO:0030216 10 PLEC KRT16 KRT14 KRT10 IVL FLG
7 cell motility GO:0048870 9.89 PLEC ITGB4 DST
8 morphogenesis of an epithelium GO:0002009 9.88 KRT17 KRT16 KRT10
9 intermediate filament cytoskeleton organization GO:0045104 9.85 PLEC KRT16 DST BFSP2
10 keratinocyte development GO:0003334 9.81 PLEC EXPH5
11 hemidesmosome assembly GO:0031581 9.65 PLEC LAMA3 ITGB4 DST COL17A1
12 intermediate filament organization GO:0045109 9.58 PLEC KRT5 KRT17 KRT16 KRT15 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.86 LAMA3 ITGB4 DST CD151
2 structural constituent of skin epidermis GO:0030280 9.76 KRT5 KRT10 KRT1 FLG
3 structural constituent of cytoskeleton GO:0005200 9.73 BFSP2 KRT14 KRT15 KRT16 KRT5 PLEC
4 structural molecule activity GO:0005198 9.47 PLEC LAMA3 KRT17 KRT16 KRT15 KRT14

Sources for Epidermolysis Bullosa Simplex

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....