EBS
MCID: EPD003
MIFTS: 53

Epidermolysis Bullosa Simplex (EBS) malady

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

Aliases & Descriptions for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 12 23 50 24 25 29 52 42 14 69
Ebs 24 25
Epidermolysis Bullosa Intraepidermic 50

Characteristics:

GeneReviews:

23
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
ICD10 33 Q81.0
MeSH 42 D016110
NCIt 47 C84692
SNOMED-CT 64 205585003 67144006
UMLS 69 C0079298

Summaries for Epidermolysis Bullosa Simplex

NIH Rare Diseases : 50 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. last updated: 7/22/2011

MalaCards based summary : Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex with nail dystrophy and epidermolysis bullosa simplex-mp, and has symptoms including palmoplantar keratoderma, neoplasm and abnormal blistering of the skin. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (Keratin 14), and among its related pathways/superpathways are Developmental Biology and Collagen chain trimerization. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and breast, and related phenotypes are Increased shRNA abundance (Z-score > 2) and integument

Genetics Home Reference : 25 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.

Wikipedia : 71 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, Recessive 1

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

(show top 50) (show all 131)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex with nail dystrophy 34.0 ITGB4 PLEC
2 epidermolysis bullosa simplex-mp 33.7 KRT1 KRT10 KRT14 PLEC
3 epidermylysis bullosa simplex-mcr 33.7 KRT14 KRT5
4 darier disease 30.1 ITGB4 KRT14 KRT5
5 squamous cell carcinoma 29.8 KRT1 KRT10 KRT14
6 epidermolysis bullosa simplex, dowling-meara type 12.8
7 epidermolysis bullosa simplex, weber-cockayne type 12.7
8 epidermolysis bullosa simplex with muscular dystrophy 12.7
9 epidermolysis bullosa simplex, koebner type 12.7
10 epidermolysis bullosa simplex, ogna type 12.6
11 epidermolysis bullosa simplex, sutosomal recessive 2 12.6
12 epidermolysis bullosa simplex, recessive 1 12.6
13 epidermolysis bullosa simplex with pyloric atresia 12.5
14 epidermolysis bullosa simplex superficialis 12.4
15 epidermolysis bullosa simplex with anodontia/hypodontia 12.3
16 epidermolysis bullosa simplex, other generalized 12.1
17 epidermolysis bullosa 11.7
18 ectodermal dysplasia/skin fragility syndrome 11.6
19 epidermolysis bullosa, nonspecific, autosomal recessive 11.4
20 epidermolysis bullosa dystrophica, ad 11.1
21 epidermolysis bullosa, late-onset localized junctional, with mental retardation 11.1
22 epidermolysa bullosa simplex with muscular dystrophy 11.1
23 muscular dystrophy 10.6
24 evc-related ellis-van creveld syndrome 10.3 KRT14 KRT5
25 pachyonychia congenita 4 10.3 KRT14 KRT5
26 sed congenita 10.3 KRT14 KRT5
27 clear cell cystadenofibroma 10.3 KRT14 KRT5
28 female breast axillary tail cancer 10.3 KRT14 KRT5
29 breast granular cell tumor 10.3 KRT14 KRT5
30 frmd7-related infantile nystagmus 10.3 ITGB4 PLEC
31 onychodystrophy-anonychia 10.3 KRT14 KRT5
32 female reproductive system disease 10.2 KRT10 KRT14
33 anal squamous cell carcinoma 10.2 KRT10 KRT5
34 adult botryoid rhabdomyosarcoma 10.2 KRT14 KRT17
35 persian gulf syndrome 10.2 KRT10 KRT5
36 vulvar alveolar soft part sarcoma 10.2 KRT14 KRT5
37 dowling-degos disease 1 10.2 KRT10 KRT14 KRT5
38 basaloid squamous cell carcinoma 10.2 KRT10 KRT14 KRT5
39 craniodiaphyseal dysplasia, autosomal dominant 10.2 KRT10 KRT17
40 peptidic growth factors deficiency 10.2 COL17A1 DST
41 spinocerebellar ataxia 23 10.2 DST ITGB4
42 mongolian spot 10.2 KRT10 KRT14 KRT5
43 dyskinesia of esophagus 10.2 COL17A1 DST
44 estrogen-receptor positive breast cancer 10.2 KRT14 KRT17 KRT5
45 insulinoma 10.2 FLG KRT10
46 epidermolysis bullosa, lethal acantholytic 10.2
47 lin-gettig syndrome 10.1 COL17A1 KRT14 KRT5
48 pyomyositis 10.1 ITGB4 KRT17 KRT5
49 anal margin basal cell carcinoma 10.1 KRT10 KRT14 KRT17
50 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 10.1 KRT10 KRT17 KRT5

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:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 neoplasm 32 HP:0002664
3 abnormal blistering of the skin 32 HP:0008066
4 atypical scarring of skin 32 HP:0000987
5 skin ulcer 32 HP:0200042
6 failure to thrive in infancy 32 HP:0001531
7 pyloric stenosis 32 HP:0002021
8 abnormality of skin pigmentation 32 HP:0001000
9 dystrophic toenail 32 HP:0001810
10 dystrophic fingernails 32 HP:0008391
11 aplasia/hypoplasia of the nails 32 HP:0008386

GenomeRNAi Phenotypes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.62 TGM5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.62 TGM5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.62 KRT5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.62 KRT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.62 TGM5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.62 KRT5 TGM5 KRT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.62 TGM5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.62 TGM5 KRT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 KRT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.62 KRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.62 KRT5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.62 KRT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.62 KRT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.62 TGM5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.62 TGM5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.62 TGM5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 KRT1

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ITGB4 KRT1 KRT14 KRT17 KRT5 PLEC

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 3 114-07-8 12560
2 Gastrointestinal Agents Phase 3
3 Erythromycin Estolate Phase 3
4 Erythromycin Ethylsuccinate Phase 3
5 Erythromycin stearate Phase 3
6 Anti-Bacterial Agents Phase 3,Phase 2
7 Anti-Infective Agents Phase 3,Phase 2
8
Acetylcholine Approved Phase 2 51-84-3 187
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Everolimus Approved Phase 2 159351-69-6 6442177
11
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
12 Cholinergic Agents Phase 2
13 Neuromuscular Agents Phase 2
14 Neurotransmitter Agents Phase 2
15 Anesthetics Phase 2
16 Peripheral Nervous System Agents Phase 2
17 Pharmaceutical Solutions Phase 2
18 abobotulinumtoxinA Phase 2
19 incobotulinumtoxinA Phase 2
20 onabotulinumtoxinA Phase 2
21 Botulinum Toxins Phase 2
22 Botulinum Toxins, Type A Phase 2
23 Diacetylrhein Phase 2
24 Immunosuppressive Agents Phase 2
25 Anti-Inflammatory Agents Phase 2
26 Antifungal Agents Phase 2
27 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3
2 ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Active, not recruiting NCT02384460 Phase 3
3 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2
4 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2
5 Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects With Epidermolysis Bullosa Simplex (EBS) Recruiting NCT03154333 Phase 2
6 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT02960997 Phase 2
7 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2
8 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Not yet recruiting NCT02470689 Phase 2
9 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Recruiting NCT02592954 Phase 1
10 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
11 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Recruiting NCT03158662
12 Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Active, not recruiting NCT02090283
13 Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa Active, not recruiting NCT02670330

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:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex 29 24 KRT5 KRT14

Anatomical Context for Epidermolysis Bullosa Simplex

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

39
Skin, Testes, Breast, Tongue

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 345)
id Title Authors Year
1
Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe. ( 27284571 )
2016
2
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. ( 27878870 )
2016
3
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. ( 27730678 )
2016
4
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. ( 27283507 )
2016
5
Treatment of symptomatic epidermolysis bullosa simplex with botulinum toxin in a pediatric patient. ( 27486588 )
2016
6
Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report. ( 27030882 )
2016
7
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology. ( 27868258 )
2016
8
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy. ( 27882080 )
2016
9
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations. ( 26929861 )
2016
10
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
11
Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14. ( 27611893 )
2016
12
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
13
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. ( 27384765 )
2016
14
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. ( 27136972 )
2016
15
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. ( 25712130 )
2015
16
A Drosophila model of Epidermolysis Bullosa Simplex. ( 25830653 )
2015
17
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. ( 25454730 )
2015
18
Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. ( 26604545 )
2015
19
A fixed denture for a child with epidermolysis bullosa simplex. ( 26637257 )
2015
20
Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: Identification of a recurrent p.P25L mutation in KRT5 in four affected family members. ( 26286811 )
2015
21
Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. ( 26264477 )
2015
22
Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness. ( 25961909 )
2015
23
Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. ( 26211931 )
2015
24
Novel keratin 5 mutation in a family with epidermolysis bullosa simplex. ( 26668653 )
2015
25
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. ( 26432462 )
2015
26
Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways. ( 26666517 )
2015
27
Apocytolysis, a proposed mechanism of blister formation in epidermolysis bullosa simplex. ( 25822146 )
2015
28
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. ( 25601422 )
2015
29
Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype. ( 24981776 )
2014
30
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
31
In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation. ( 25017986 )
2014
32
Renal involvement in epidermolysis bullosa simplex: an unusual presentation. ( 23229918 )
2014
33
Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene. ( 25473227 )
2014
34
Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex. ( 25040198 )
2014
35
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. ( 23774525 )
2014
36
Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant. ( 23746086 )
2014
37
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. ( 25209331 )
2014
38
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. ( 25059916 )
2014
39
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. ( 24964947 )
2014
40
T-lymphocytes are Directly Involved in the Clinical Expression of Migratory Circinate Erythema in Epidermolysis Bullosa Simplex Patients. ( 24104543 )
2013
41
The pathogenetic role of IL-1I^ in severe epidermolysis bullosa simplex. ( 23344459 )
2013
42
MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex. ( 23894602 )
2013
43
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. ( 24019772 )
2013
44
A novel keratin 5 mutation in an African family with Epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains. ( 23450297 )
2013
45
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. ( 23289980 )
2013
46
Imbalance of intermediate filament component keratin 14 contributes to increased stress signalling in epidermolysis bullosa simplex. ( 23528216 )
2013
47
Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene. ( 23588208 )
2013
48
New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy. ( 23496806 )
2013
49
Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex. ( 23993914 )
2013
50
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. ( 24024749 )
2013

Variations for Epidermolysis Bullosa Simplex

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 FLG KRT1 KRT10 KRT14 KRT17 KRT5
2
Show member pathways
12.48 COL17A1 DST ITGB4 PLEC
3
Show member pathways
12.36 COL17A1 DST ITGB4 PLEC
4
Show member pathways
12.29 COL17A1 DST ITGB4 PLEC
5 12.11 KRT10 KRT17 KRT5 PLEC
6
Show member pathways
11.95 FLG KRT1 KRT10 KRT14 KRT17 KRT5
7 11.35 KRT14 KRT17 KRT5
8
Show member pathways
11.13 DST KRT1 KRT14 KRT17 KRT5 PLEC
9 10.92 COL17A1 ITGB4

GO Terms for Epidermolysis Bullosa Simplex

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 DST ITGB4 KRT1 KRT10 KRT14 KRT17
2 keratin filament GO:0045095 9.43 KRT1 KRT14 KRT5
3 cornified envelope GO:0001533 9.33 FLG KRT1 KRT10
4 hemidesmosome GO:0030056 9.26 COL17A1 DST ITGB4 PLEC
5 intermediate filament GO:0005882 9.23 BFSP2 DST FLG KRT1 KRT10 KRT14

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

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.77 KRT1 KRT10 KRT14 KRT17 KRT5
2 cytoskeleton organization GO:0007010 9.65 BFSP2 DST KRT5
3 peptide cross-linking GO:0018149 9.62 FLG KRT1 KRT10 TGM5
4 epidermis development GO:0008544 9.55 COL17A1 KRT14 KRT17 KRT5 TGM5
5 cornification GO:0070268 9.5 FLG KRT1 KRT10 KRT14 KRT17 KRT5
6 cell motility GO:0048870 9.46 DST ITGB4
7 establishment of skin barrier GO:0061436 9.43 FLG KRT1
8 skin epidermis development GO:0098773 9.43 FLG KRT1 KRT10
9 intermediate filament cytoskeleton organization GO:0045104 9.4 BFSP2 DST
10 hemidesmosome assembly GO:0031581 9.02 COL17A1 ITGB4 KRT14 KRT5 PLEC

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.26 BFSP2 KRT14 KRT17 KRT5
2 structural constituent of epidermis GO:0030280 8.8 FLG KRT1 KRT10

Sources for Epidermolysis Bullosa Simplex

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
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