MCID: EPD003
MIFTS: 49

Epidermolysis Bullosa Simplex

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 54 26 38 30 56 6 45 15 74
Epidermolysis Bullosa Intraepidermic 54
Ebs 26

Characteristics:

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:



External Ids:

Disease Ontology 12 DOID:4644
KEGG 38 H00584
MeSH 45 D016110
NCIt 51 C84692
SNOMED-CT 69 67144006
ICD10 34 Q81.0
UMLS 74 C0079298

Summaries for Epidermolysis Bullosa Simplex

NIH Rare Diseases : 54 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.

MalaCards based summary : Epidermolysis Bullosa Simplex, also known as epidermolysis bullosa intraepidermic, is related to epidermolysis bullosa simplex, autosomal recessive 1 and epidermolysis bullosa simplex with pyloric atresia. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (Keratin 14), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Erythromycin and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung, 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.

Genetics Home Reference : 26 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.

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 212)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, autosomal recessive 1 34.9 KRT14 KRT5
2 epidermolysis bullosa simplex with pyloric atresia 34.8 ITGB4 PLEC
3 epidermolysis bullosa simplex, generalized 34.8 KLHL24 KRT14 KRT5
4 epidermolysis bullosa simplex, localized 34.7 ITGB4 KRT14 KRT5
5 epidermolysis bullosa simplex, dowling-meara type 34.6 KRT10 KRT14 KRT5
6 epidermolysis bullosa simplex with mottled pigmentation 34.5 KRT10 KRT14 KRT5
7 epidermolysis bullosa simplex with muscular dystrophy 34.3 COL17A1 DST PLEC
8 epidermolysis bullosa with pyloric atresia 32.9 ITGB4 PLEC
9 epidermolysis bullosa junctionalis with pyloric atresia 32.1 COL17A1 DST ITGB4 PLEC
10 epidermolysis bullosa 31.3 COL17A1 DST ITGB4 KLHL24 KRT14 KRT5
11 epidermolysis bullosa acquisita 31.0 COL17A1 DST ITGB4
12 pyloric atresia 30.4 COL17A1 ITGB4 PLEC
13 kindler syndrome 30.3 DST ITGB4
14 epidermolytic hyperkeratosis 30.3 KRT1 KRT10 KRT5
15 autosomal dominant epidermolytic ichthyosis 30.2 KRT1 KRT10
16 junctional epidermolysis bullosa 29.9 COL17A1 DST ITGB4
17 ichthyosis 29.9 KRT1 KRT10 KRT5
18 bullous pemphigoid 29.8 COL17A1 DST ITGB4 PLEC
19 epidermolysis bullosa simplex, ogna type 13.1
20 epidermolysis bullosa simplex with migratory circinate erythema 13.0
21 epidermolysis bullosa simplex, autosomal recessive 2 13.0
22 epidermolysis bullosa simplex with nail dystrophy 12.9
23 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.8
24 epidermolysis bullosa simplex superficialis 12.7
25 epidermolysis bullosa simplex with anodontia/hypodontia 12.6
26 ectodermal dysplasia/skin fragility syndrome 12.3
27 epidermolysa bullosa simplex with muscular dystrophy 12.0
28 epidermolysis bullosa, lethal acantholytic 11.8
29 epidermolysis bullosa, nonspecific, autosomal recessive 11.8
30 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.7
31 epidermolysis bullosa dystrophica, autosomal dominant 11.4
32 recessive dystrophic epidermolysis bullosa-generalized other 11.2
33 late-onset junctional epidermolysis bullosa 11.1
34 epidermolysis bullosa pruriginosa 11.1
35 muscular dystrophy 10.8
36 pfeiffer syndrome 10.5
37 lymphoma 10.5
38 burkitt lymphoma 10.4
39 nasopharyngeal carcinoma 10.4
40 alopecia 10.3
41 peeling skin syndrome 10.3
42 benign breast adenomyoepithelioma 10.3 KRT14 KRT5
43 breast adenomyoepithelioma 10.3 KRT14 KRT5
44 apocrine sweat gland neoplasm 10.3 KRT14 KRT5
45 cervical clear cell adenocarcinoma 10.3 KRT14 KRT5
46 odontoma 10.3 KRT14 KRT5
47 breast myoepithelial neoplasm 10.3 KRT14 KRT5
48 breast benign neoplasm 10.3 KRT14 KRT5
49 thoracic benign neoplasm 10.3 KRT14 KRT5
50 atrial standstill 1 10.3

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:

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

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ITGB4 KRT1 KRT14 KRT5 PLEC

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 441411 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
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
5
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
6
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
7 Erythromycin stearate Phase 3
8 Gastrointestinal Agents Phase 3
9 Anti-Infective Agents Phase 3,Phase 2
10 Erythromycin Ethylsuccinate Phase 3
11 Erythromycin Estolate Phase 3
12 Anti-Bacterial Agents Phase 3,Phase 2
13 Anesthetics Phase 2, Phase 3
14 Acetylcholine Release Inhibitors Phase 2, Phase 3
15 abobotulinumtoxinA Phase 2, Phase 3
16 Botulinum Toxins, Type A Phase 2, Phase 3
17 Cholinergic Agents Phase 2, Phase 3
18 Neurotransmitter Agents Phase 2, Phase 3
19 Anti-Infective Agents, Local Phase 2, Phase 3
20
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
21
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
22
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
23 Neuromuscular Agents Phase 2
24 Botulinum Toxins Phase 2
25 Pharmaceutical Solutions Phase 2
26 Peripheral Nervous System Agents Phase 2
27 Immunologic Factors Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Immunosuppressive Agents Phase 2
30 Antifungal Agents Phase 2
31 Emollients Phase 2
32 Anti-Inflammatory Agents Phase 2
33 Sunscreening Agents Phase 2
34 Diacetylrhein Phase 2

Interventional clinical trials:

(show all 12)
# 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 Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex 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 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
5 A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients Completed NCT03468322 Phase 2 AC-203;Vehicle
6 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
7 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Active, not recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
8 Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex Enrolling by invitation NCT03389308 Phase 2 Diacerein 1% Ointment
9 Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects With Epidermolysis Bullosa Simplex (EBS) Terminated NCT03154333 Phase 2 Diacerein 1% Ointment Topical Formulation;Vehicle
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 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308 Not Applicable
12 Computational Drug Repurposing for EBS 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 30

Anatomical Context for Epidermolysis Bullosa Simplex

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

42
Skin, Breast, Lung, T Cells, Testes, Tongue, Bone

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 386)
# Title Authors Year
1
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. ( 30120936 )
2019
2
Bothersome blisters: localized epidermolysis bullosa simplex. ( 31039243 )
2019
3
Topical Diacerein Cream for Epidermolysis Bullosa Simplex: A Review ( 31095348 )
2019
4
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. ( 29932457 )
2019
5
An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex. ( 30099737 )
2019
6
Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases. ( 30226531 )
2019
7
Definitive radiotherapy for Merkel cell carcinoma in the setting of epidermolysis bullosa simplex. ( 30450568 )
2019
8
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. ( 30515866 )
2019
9
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5. ( 30690752 )
2019
10
Potential therapeutic targeting of inflammation in epidermolysis bullosa simplex. ( 30714107 )
2019
11
Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype. ( 30933721 )
2019
12
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
13
Keratins and epidermolysis bullosa simplex. ( 30078200 )
2018
14
Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy. ( 30180241 )
2018
15
A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex. ( 30240119 )
2018
16
Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex. ( 30382914 )
2018
17
Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review. ( 29024068 )
2018
18
Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability. ( 29080682 )
2018
19
A novel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema. ( 29180315 )
2018
20
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. ( 29410318 )
2018
21
p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex. ( 29464779 )
2018
22
Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex. ( 29574966 )
2018
23
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. ( 29779254 )
2018
24
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families. ( 29797489 )
2018
25
Epidermolysis bullosa simplex complicated by allergic contact dermatitis caused by a hydrocolloid dressing. ( 28220564 )
2017
26
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India. ( 28925504 )
2017
27
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. ( 28941359 )
2017
28
Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14. ( 27611893 )
2017
29
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. ( 27730678 )
2017
30
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology. ( 27868258 )
2017
31
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. ( 27878870 )
2017
32
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex. ( 28111128 )
2017
33
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex. ( 28119998 )
2017
34
"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex. ( 28425111 )
2017
35
Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules. ( 28558912 )
2017
36
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. ( 28561874 )
2017
37
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex. ( 28576738 )
2017
38
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. ( 28659151 )
2017
39
Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. ( 28765827 )
2017
40
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. ( 27136972 )
2017
41
[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene]. ( 28777847 )
2017
42
Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members. ( 26286811 )
2016
43
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
44
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy. ( 27882080 )
2016
45
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ( 28400893 )
2016
46
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. ( 26743602 )
2016
47
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations. ( 26929861 )
2016
48
Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report. ( 27030882 )
2016
49
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
50
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. ( 27283507 )
2016

Variations for Epidermolysis Bullosa Simplex

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT14 NM_000526.4(KRT14): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs60399023 GRCh37 Chromosome 17, 39742714: 39742714
2 KRT14 NM_000526.4(KRT14): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs60399023 GRCh38 Chromosome 17, 41586462: 41586462
3 KRT5 NM_000424.3(KRT5): c.1065A> C (p.Thr355=) single nucleotide variant Benign rs4761924 GRCh37 Chromosome 12, 52911401: 52911401
4 KRT5 NM_000424.3(KRT5): c.1065A> C (p.Thr355=) single nucleotide variant Benign rs4761924 GRCh38 Chromosome 12, 52517617: 52517617
5 KRT5 NM_000424.3(KRT5): c.1582A> G (p.Ser528Gly) single nucleotide variant Benign rs11549950 GRCh37 Chromosome 12, 52908917: 52908917
6 KRT5 NM_000424.3(KRT5): c.1582A> G (p.Ser528Gly) single nucleotide variant Benign rs11549950 GRCh38 Chromosome 12, 52515133: 52515133
7 KRT5 NM_000424.3(KRT5): c.1627G> A (p.Gly543Ser) single nucleotide variant Benign rs11549949 GRCh37 Chromosome 12, 52908872: 52908872
8 KRT5 NM_000424.3(KRT5): c.1627G> A (p.Gly543Ser) single nucleotide variant Benign rs11549949 GRCh38 Chromosome 12, 52515088: 52515088
9 KRT5 NM_000424.3(KRT5): c.413G> A (p.Gly138Glu) single nucleotide variant Benign rs11170164 GRCh37 Chromosome 12, 52913668: 52913668
10 KRT5 NM_000424.3(KRT5): c.413G> A (p.Gly138Glu) single nucleotide variant Benign rs11170164 GRCh38 Chromosome 12, 52519884: 52519884
11 KRT5 NM_000424.3(KRT5): c.555+9C> T single nucleotide variant Benign rs638907 GRCh37 Chromosome 12, 52913517: 52913517
12 KRT5 NM_000424.3(KRT5): c.555+9C> T single nucleotide variant Benign rs638907 GRCh38 Chromosome 12, 52519733: 52519733
13 KRT5 NM_000424.3(KRT5): c.591C> A (p.Asp197Glu) single nucleotide variant Benign rs641615 GRCh37 Chromosome 12, 52912909: 52912909
14 KRT5 NM_000424.3(KRT5): c.591C> A (p.Asp197Glu) single nucleotide variant Benign rs641615 GRCh38 Chromosome 12, 52519125: 52519125
15 KRT5 NM_000424.3(KRT5): c.594C> A (p.Thr198=) single nucleotide variant Benign rs641621 GRCh37 Chromosome 12, 52912906: 52912906
16 KRT5 NM_000424.3(KRT5): c.594C> A (p.Thr198=) single nucleotide variant Benign rs641621 GRCh38 Chromosome 12, 52519122: 52519122
17 KRT5 NM_000424.3(KRT5): c.630T> C (p.Thr210=) single nucleotide variant Benign rs17852231 GRCh37 Chromosome 12, 52912870: 52912870
18 KRT5 NM_000424.3(KRT5): c.630T> C (p.Thr210=) single nucleotide variant Benign rs17852231 GRCh38 Chromosome 12, 52519086: 52519086
19 KRT5 NM_000424.3(KRT5): c.732G> A (p.Leu244=) single nucleotide variant Benign rs1132948 GRCh37 Chromosome 12, 52912768: 52912768
20 KRT5 NM_000424.3(KRT5): c.732G> A (p.Leu244=) single nucleotide variant Benign rs1132948 GRCh38 Chromosome 12, 52518984: 52518984
21 KRT5 NM_000424.3(KRT5): c.631G> A (p.Val211Met) single nucleotide variant Likely benign rs147498164 GRCh37 Chromosome 12, 52912869: 52912869
22 KRT5 NM_000424.3(KRT5): c.631G> A (p.Val211Met) single nucleotide variant Likely benign rs147498164 GRCh38 Chromosome 12, 52519085: 52519085
23 KRT5 NM_000424.3(KRT5): c.556-15C> T single nucleotide variant Benign rs60314569 GRCh38 Chromosome 12, 52519175: 52519175
24 KRT5 NM_000424.3(KRT5): c.556-15C> T single nucleotide variant Benign rs60314569 GRCh37 Chromosome 12, 52912959: 52912959
25 KRT5 NM_000424.3(KRT5): c.351C> T (p.Leu117=) single nucleotide variant Benign rs11549951 GRCh38 Chromosome 12, 52519946: 52519946
26 KRT5 NM_000424.3(KRT5): c.351C> T (p.Leu117=) single nucleotide variant Benign rs11549951 GRCh37 Chromosome 12, 52913730: 52913730
27 KRT5 NM_000424.3(KRT5): c.156G> A (p.Ala52=) single nucleotide variant Benign/Likely benign rs74093478 GRCh38 Chromosome 12, 52520141: 52520141
28 KRT5 NM_000424.3(KRT5): c.156G> A (p.Ala52=) single nucleotide variant Benign/Likely benign rs74093478 GRCh37 Chromosome 12, 52913925: 52913925
29 KRT5 NM_000424.3(KRT5): c.30G> A (p.Arg10=) single nucleotide variant Likely benign rs61747182 GRCh38 Chromosome 12, 52520267: 52520267
30 KRT5 NM_000424.3(KRT5): c.30G> A (p.Arg10=) single nucleotide variant Likely benign rs61747182 GRCh37 Chromosome 12, 52914051: 52914051
31 KRT5 NM_000424.3(KRT5): c.*323T> C single nucleotide variant Likely benign rs550268995 GRCh37 Chromosome 12, 52908403: 52908403
32 KRT5 NM_000424.3(KRT5): c.*323T> C single nucleotide variant Likely benign rs550268995 GRCh38 Chromosome 12, 52514619: 52514619
33 KRT5 NM_000424.3(KRT5): c.*59C> T single nucleotide variant Uncertain significance rs886049624 GRCh37 Chromosome 12, 52908667: 52908667
34 KRT5 NM_000424.3(KRT5): c.*59C> T single nucleotide variant Uncertain significance rs886049624 GRCh38 Chromosome 12, 52514883: 52514883
35 KRT5 NM_000424.3(KRT5): c.1705G> A (p.Gly569Arg) single nucleotide variant Likely benign rs148276250 GRCh38 Chromosome 12, 52515010: 52515010
36 KRT5 NM_000424.3(KRT5): c.1705G> A (p.Gly569Arg) single nucleotide variant Likely benign rs148276250 GRCh37 Chromosome 12, 52908794: 52908794
37 KRT5 NM_000424.3(KRT5): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs202104381 GRCh38 Chromosome 12, 52515140: 52515140
38 KRT5 NM_000424.3(KRT5): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs202104381 GRCh37 Chromosome 12, 52908924: 52908924
39 KRT5 NM_000424.3(KRT5): c.1554C> A (p.Gly518=) single nucleotide variant Benign/Likely benign rs144226740 GRCh38 Chromosome 12, 52515161: 52515161
40 KRT5 NM_000424.3(KRT5): c.1554C> A (p.Gly518=) single nucleotide variant Benign/Likely benign rs144226740 GRCh37 Chromosome 12, 52908945: 52908945
41 KRT5 NM_000424.3(KRT5): c.381C> T (p.Phe127=) single nucleotide variant Likely benign rs150390099 GRCh38 Chromosome 12, 52519916: 52519916
42 KRT5 NM_000424.3(KRT5): c.381C> T (p.Phe127=) single nucleotide variant Likely benign rs150390099 GRCh37 Chromosome 12, 52913700: 52913700
43 KRT5 NM_000424.3(KRT5): c.381C> A (p.Phe127Leu) single nucleotide variant Uncertain significance rs150390099 GRCh38 Chromosome 12, 52519916: 52519916
44 KRT5 NM_000424.3(KRT5): c.381C> A (p.Phe127Leu) single nucleotide variant Uncertain significance rs150390099 GRCh37 Chromosome 12, 52913700: 52913700
45 KRT5 NM_000424.3(KRT5): c.357C> A (p.Gly119=) single nucleotide variant Uncertain significance rs138218183 GRCh38 Chromosome 12, 52519940: 52519940
46 KRT5 NM_000424.3(KRT5): c.357C> A (p.Gly119=) single nucleotide variant Uncertain significance rs138218183 GRCh37 Chromosome 12, 52913724: 52913724
47 KRT5 NM_000424.3(KRT5): c.259T> G (p.Phe87Val) single nucleotide variant Likely benign rs61747188 GRCh38 Chromosome 12, 52520038: 52520038
48 KRT5 NM_000424.3(KRT5): c.259T> G (p.Phe87Val) single nucleotide variant Likely benign rs61747188 GRCh37 Chromosome 12, 52913822: 52913822
49 KRT5 NM_000424.3(KRT5): c.123C> T (p.Gly41=) single nucleotide variant Uncertain significance rs769626917 GRCh38 Chromosome 12, 52520174: 52520174
50 KRT5 NM_000424.3(KRT5): c.123C> T (p.Gly41=) single nucleotide variant Uncertain significance rs769626917 GRCh37 Chromosome 12, 52913958: 52913958

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 COL17A1 DST ITGB4 PLEC
2
Show member pathways
12.21 COL17A1 DST ITGB4 PLEC
3
Show member pathways
12.08 COL17A1 DST ITGB4 PLEC
4 12.07 KRT10 KRT5 PLEC
5
Show member pathways
11.71 KRT1 KRT10 KRT14 KRT5
6
Show member pathways
11.05 DST KRT1 KRT14 KRT5 PLEC
7 10.86 COL17A1 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 extracellular exosome GO:0070062 9.8 ITGB4 KRT1 KRT10 KRT14 KRT5 PLEC
2 cell junction GO:0030054 9.55 COL17A1 DST ITGB4 KLHL24 PLEC
3 keratin filament GO:0045095 9.43 KRT1 KRT14 KRT5
4 intermediate filament GO:0005882 9.43 DST KRT1 KRT10 KRT14 KRT5 PLEC
5 cornified envelope GO:0001533 9.4 KRT1 KRT10
6 cell leading edge GO:0031252 9.37 DST ITGB4
7 hemidesmosome GO:0030056 8.92 COL17A1 DST ITGB4 PLEC

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.46 KRT1 KRT10 KRT14 KRT5
2 peptide cross-linking GO:0018149 9.43 KRT1 KRT10
3 epidermis development GO:0008544 9.43 COL17A1 KRT14 KRT5
4 protein heterotetramerization GO:0051290 9.4 KRT1 KRT10
5 cell motility GO:0048870 9.37 DST ITGB4
6 intermediate filament cytoskeleton organization GO:0045104 9.32 DST PLEC
7 cornification GO:0070268 9.26 KRT1 KRT10 KRT14 KRT5
8 hemidesmosome assembly GO:0031581 9.1 COL17A1 DST ITGB4 KRT14 KRT5 PLEC

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 9.16 KRT1 KRT10
2 structural constituent of cytoskeleton GO:0005200 9.13 KRT14 KRT5 PLEC
3 structural molecule activity GO:0005198 8.92 DST KRT1 KRT10 PLEC

Sources for Epidermolysis Bullosa Simplex

3 CDC
7 CNVD
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
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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