MCID: EPD003
MIFTS: 53

Epidermolysis Bullosa Simplex

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

MalaCards integrated aliases 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-mp and epidermolysis bullosa simplex, koebner type, and has symptoms including palmoplantar keratoderma, atypical scarring of skin and abnormality of skin pigmentation. 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 Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and tongue, 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 : 72 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, Autosomal Recessive 2 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 142)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex-mp 34.7 KLHL24 KRT14 KRT5
2 epidermolysis bullosa simplex, koebner type 34.6 KRT10 KRT14 KRT5
3 epidermolysis bullosa simplex, ogna type 34.4 COL17A1 DST PLEC
4 epidermolysis bullosa simplex, dowling-meara type 34.0 KRT1 KRT10 KRT14 PLEC
5 squamous cell carcinoma 30.3 KRT1 KRT10
6 epidermolysis bullosa simplex, weber-cockayne type 12.7
7 epidermolysis bullosa simplex with muscular dystrophy 12.7
8 epidermolysis bullosa simplex, autosomal recessive 2 12.5
9 epidermolysis bullosa simplex-mcr 12.5
10 epidermolysis bullosa simplex with pyloric atresia 12.5
11 epidermolysis bullosa simplex, recessive 1 12.5
12 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.4
13 epidermolysis bullosa simplex with nail dystrophy 12.4
14 epidermolysis bullosa simplex superficialis 12.4
15 epidermolysis bullosa simplex with anodontia/hypodontia 12.2
16 epidermolysis bullosa simplex, other generalized 12.1
17 epidermolysis bullosa 11.7
18 epidermolysa bullosa simplex with muscular dystrophy 11.7
19 ectodermal dysplasia/skin fragility syndrome 11.6
20 epidermolysis bullosa, lethal acantholytic 11.5
21 epidermolysis bullosa, nonspecific, autosomal recessive 11.4
22 epidermolysis bullosa dystrophica, ad 11.1
23 epidermolysis bullosa, late-onset localized junctional, with mental retardation 11.1
24 pachyonychia congenita 3 10.8 KRT14 KRT5
25 dowling-degos disease 1 10.8 KRT14 KRT5
26 congenital hemolytic anemia 10.7 KRT14 KRT5
27 female breast axillary tail cancer 10.7 KRT14 KRT5
28 lobular neoplasia 10.7 KRT14 KRT5
29 olivopontocerebellar atrophy deafness 10.7 KRT14 KRT5
30 urethra clear cell adenocarcinoma 10.7 KRT14 KRT5
31 vaginal adenoma 10.7 KRT14 KRT5
32 connective tissue benign neoplasm 10.7 KRT14 KRT5
33 hemoglobin e disease 10.6 KRT14 KRT17
34 comedo carcinoma 10.6 KRT14 KRT5
35 muscular dystrophy 10.6
36 pneumonia 10.6 KRT10 KRT5
37 malignant peritoneal solitary fibrous tumor 10.5 KRT10 KRT5
38 ercc2-related xeroderma pigmentosum 10.5 KLHL24 KRT14 KRT5
39 middle ear squamous cell carcinoma 10.5 KRT14 KRT17
40 penis agenesis 10.5 COL17A1 DST
41 sclerosteosis 1 10.5 KRT10 KRT17
42 rectum carcinoma in situ 10.5 COL17A1 DST
43 female reproductive system disease 10.5 KRT10 KRT14
44 ductal carcinoma in situ 10.4 KRT14 KRT17 KRT5
45 penis squamous cell carcinoma 10.4 KRT10 KRT14 KRT5
46 leptospirosis 10.4 KRT10 KRT14
47 basal cell carcinoma 4 10.4 KRT1 KRT17
48 keratosis palmoplantaris striata iii 10.4 KRT1 KRT17
49 epicardium cancer 10.4 KRT10 KRT14 KRT5
50 lacrimal gland mucoepidermoid carcinoma 10.4 KRT10 KRT14 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 frequent (33%) HP:0000982
2 atypical scarring of skin 32 occasional (7.5%) HP:0000987
3 abnormality of skin pigmentation 32 frequent (33%) HP:0001000
4 failure to thrive in infancy 32 frequent (33%) HP:0001531
5 dystrophic toenail 32 frequent (33%) HP:0001810
6 pyloric stenosis 32 frequent (33%) HP:0002021
7 neoplasm 32 occasional (7.5%) HP:0002664
8 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
9 aplasia/hypoplasia of the nails 32 frequent (33%) HP:0008386
10 dystrophic fingernails 32 frequent (33%) HP:0008391
11 skin ulcer 32 frequent (33%) HP:0200042

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 TGM5 KRT1 KRT5
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 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 3 114-07-8 12560
2 Anti-Bacterial Agents Phase 3,Phase 2
3 Anti-Infective Agents Phase 3,Phase 2
4 Erythromycin Estolate Phase 3
5 Erythromycin Ethylsuccinate Phase 3
6 Erythromycin stearate Phase 3
7 Gastrointestinal Agents Phase 3
8
Acetylcholine Approved Phase 2 51-84-3 187
9
Everolimus Approved Phase 2 159351-69-6 6442177
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
12 abobotulinumtoxinA Phase 2
13 Anesthetics Phase 2
14 Botulinum Toxins Phase 2
15 Botulinum Toxins, Type A Phase 2
16 Cholinergic Agents Phase 2
17 Neuromuscular Agents Phase 2
18 Neurotransmitter Agents Phase 2
19 onabotulinumtoxinA Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Pharmaceutical Solutions Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Diacetylrhein Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Antifungal Agents Phase 2
26 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show all 14)

id 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 ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Completed NCT02384460 Phase 3 SD-101-6.0 cream;SD-101-0.0 cream
3 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
4 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 3% SD-101 dermal cream;6% SD-101 dermal cream;Vehicle (0% SD-101)
5 Safety and Efficacy of Diacerein 1% Ointment Topical Formulation Compared to Placebo for Subjects With Epidermolysis Bullosa Simplex (EBS) Recruiting NCT03154333 Phase 2 Diacerein 1% Ointment Topical Formulation;Vehicle
6 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT02960997 Phase 2 Sirolimus, 2%;Vehicle
7 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2 Sirolimus 2%;Vehicle
8 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Not yet recruiting NCT02470689 Phase 2 Diacerin cream
9 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Unknown status NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
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 Completed NCT03158662
12 Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Active, not recruiting NCT02090283 SD-101 dermal cream (6%)
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 Zorblisa (SD-101-6.0) cream
14 Computational Drug Repurposing for EBS Enrolling by invitation 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:

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, Tongue, Breast

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 356)
id Title Authors Year
1
Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules. ( 28558912 )
2017
2
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. ( 28659151 )
2017
3
"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex. ( 28425111 )
2017
4
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. ( 28561874 )
2017
5
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India. ( 28925504 )
2017
6
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex. ( 28119998 )
2017
7
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex. ( 28576738 )
2017
8
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. ( 28941359 )
2017
9
Epidermolysis bullosa simplex complicated by allergic contact dermatitis caused by a hydrocolloid dressing. ( 28220564 )
2017
10
Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. ( 28765827 )
2017
11
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
12
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. ( 27384765 )
2016
13
Treatment of symptomatic epidermolysis bullosa simplex with botulinum toxin in a pediatric patient. ( 27486588 )
2016
14
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy. ( 27882080 )
2016
15
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. ( 27136972 )
2016
16
Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report. ( 27030882 )
2016
17
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. ( 27283507 )
2016
18
Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14. ( 27611893 )
2016
19
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. ( 27878870 )
2016
20
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations. ( 26929861 )
2016
21
Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe. ( 27284571 )
2016
22
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology. ( 27868258 )
2016
23
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. ( 27730678 )
2016
24
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ( 28400893 )
2016
25
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
26
Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. ( 26264477 )
2015
27
Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness. ( 25961909 )
2015
28
Apocytolysis, a proposed mechanism of blister formation in epidermolysis bullosa simplex. ( 25822146 )
2015
29
A fixed denture for a child with epidermolysis bullosa simplex. ( 26637257 )
2015
30
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. ( 25712130 )
2015
31
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
32
Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. ( 26211931 )
2015
33
A Drosophila model of Epidermolysis Bullosa Simplex. ( 25830653 )
2015
34
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
35
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
36
Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. ( 26604545 )
2015
37
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. ( 25601422 )
2015
38
Novel keratin 5 mutation in a family with epidermolysis bullosa simplex. ( 26668653 )
2015
39
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. ( 25454730 )
2015
40
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
41
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. ( 25209331 )
2014
42
Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant. ( 23746086 )
2014
43
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. ( 25059916 )
2014
44
Renal involvement in epidermolysis bullosa simplex: an unusual presentation. ( 23229918 )
2014
45
Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex. ( 25040198 )
2014
46
Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene. ( 25473227 )
2014
47
In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation. ( 25017986 )
2014
48
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. ( 23774525 )
2014
49
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. ( 24964947 )
2014
50
Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype. ( 24981776 )
2014

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 cell junction GO:0030054 9.67 COL17A1 DST ITGB4 PLEC
3 keratin filament GO:0045095 9.43 KRT1 KRT14 KRT5
4 cornified envelope GO:0001533 9.33 FLG KRT1 KRT10
5 hemidesmosome GO:0030056 9.26 COL17A1 DST ITGB4 PLEC
6 intermediate filament GO:0005882 9.17 DST FLG KRT1 KRT10 KRT14 KRT17

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 peptide cross-linking GO:0018149 9.62 FLG KRT1 KRT10 TGM5
3 epidermis development GO:0008544 9.55 COL17A1 KRT14 KRT17 KRT5 TGM5
4 cornification GO:0070268 9.5 FLG KRT1 KRT10 KRT14 KRT17 KRT5
5 cell motility GO:0048870 9.46 DST ITGB4
6 establishment of skin barrier GO:0061436 9.43 FLG KRT1
7 skin epidermis development GO:0098773 9.43 FLG KRT1 KRT10
8 intermediate filament organization GO:0045109 9.4 KLHL24 KRT17
9 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 9.33 KRT14 KRT17 KRT5
2 structural molecule activity GO:0005198 9.13 FLG KRT1 KRT17
3 structural constituent of epidermis GO:0030280 8.8 FLG KRT1 KRT10

Sources for Epidermolysis Bullosa Simplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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