MCID: EPD003
MIFTS: 51

Epidermolysis Bullosa Simplex

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

MalaCards integrated aliases for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 12 24 53 25 37 29 55 6 44 15 73
Epidermolysis Bullosa Intraepidermic 53
Ebs 25

Characteristics:

GeneReviews:

24
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 44 D016110
NCIt 50 C84692
SNOMED-CT 68 205585003 67144006
KEGG 37 H00584
UMLS 73 C0079298

Summaries for Epidermolysis Bullosa Simplex

NIH Rare Diseases : 53 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 PLEC (Plectin), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and tongue, and related phenotypes are palmoplantar keratoderma and atypical scarring of skin

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 : 76 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, 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 121)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, autosomal recessive 1 35.0 KRT14 KRT5
2 epidermolysis bullosa simplex with pyloric atresia 34.7 ITGB4 PLEC
3 epidermolysis bullosa simplex, generalized 34.5 KLHL24 KRT14 KRT5
4 epidermolysis bullosa simplex, localized 34.4 ITGB4 KRT14 KRT5
5 epidermolysis bullosa simplex, dowling-meara type 34.2 KRT10 KRT14 KRT5
6 epidermolysis bullosa simplex with mottled pigmentation 34.1 KRT10 KRT14 KRT5
7 epidermolysis bullosa simplex with muscular dystrophy 33.7 COL17A1 DST PLEC
8 kindler syndrome 30.2 DST ITGB4
9 pyloric atresia 29.7 COL17A1 ITGB4 PLEC
10 epidermolytic hyperkeratosis 29.7 KRT1 KRT10 KRT5
11 epidermolysis bullosa 29.2 COL17A1 DST ITGB4 KLHL24 KRT14 KRT5
12 junctional epidermolysis bullosa 29.2 COL17A1 DST ITGB4
13 bullous pemphigoid 28.8 COL17A1 DST ITGB4 PLEC
14 epidermolysis bullosa simplex with migratory circinate erythema 12.8
15 epidermolysis bullosa simplex, ogna type 12.8
16 epidermolysis bullosa simplex, autosomal recessive 2 12.7
17 epidermolysis bullosa simplex, generalized, with scarring and hair loss 12.6
18 epidermolysis bullosa simplex with nail dystrophy 12.5
19 epidermolysis bullosa simplex superficialis 12.5
20 epidermolysis bullosa simplex with anodontia/hypodontia 12.4
21 generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss 12.2
22 ectodermal dysplasia/skin fragility syndrome 12.1
23 epidermolysa bullosa simplex with muscular dystrophy 11.8
24 epidermolysis bullosa, lethal acantholytic 11.6
25 epidermolysis bullosa, nonspecific, autosomal recessive 11.6
26 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.5
27 epidermolysis bullosa dystrophica, autosomal dominant 11.2
28 muscular dystrophy 10.7
29 benign breast adenomyoepithelioma 10.6 KRT14 KRT5
30 apocrine sweat gland neoplasm 10.5 KRT14 KRT5
31 odontoma 10.5 KRT14 KRT5
32 breast adenomyoepithelioma 10.5 KRT14 KRT5
33 breast myoepithelial neoplasm 10.5 KRT14 KRT5
34 cervical clear cell adenocarcinoma 10.5 KRT14 KRT5
35 lipoadenoma 10.5 KRT14 KRT5
36 lipid-rich carcinoma 10.5 KRT14 KRT5
37 epidermolysis bullosa with pyloric atresia 10.4 ITGB4 PLEC
38 ichthyosis hystrix, curth-macklin type 10.4 KRT1 KRT5
39 pre-malignant neoplasm 10.4 KRT14 KRT5
40 sweat gland cancer 10.3 KRT14 KRT5
41 gastric squamous cell carcinoma 10.2 KRT10 KRT5
42 basal cell carcinoma, infundibulocystic 10.2 KRT10 KRT14
43 malignant biphasic mesothelioma 10.2 KRT10 KRT5
44 alopecia 10.2
45 peeling skin syndrome 10.2
46 osteofibrous dysplasia 10.2 KRT1 KRT5
47 hidradenitis suppurativa 10.1 KRT10 KRT14
48 hidradenitis 10.1 KRT10 KRT14
49 peeling skin syndrome 2 10.1
50 muscular dystrophy, congenital, lmna-related 10.1

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)
# 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

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

46
# 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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560
2 Gastrointestinal Agents Phase 3
3 Anti-Bacterial Agents Phase 3,Phase 2
4 Erythromycin Estolate Phase 3
5 Erythromycin Ethylsuccinate Phase 3
6 Erythromycin stearate Phase 3
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 abobotulinumtoxinA Phase 2
13 Cholinergic Agents Phase 2
14 Neuromuscular Agents Phase 2
15 Neurotransmitter Agents Phase 2
16 Anesthetics Phase 2
17 onabotulinumtoxinA Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Pharmaceutical Solutions Phase 2
20 Botulinum Toxins, Type A Phase 2
21 Botulinum Toxins Phase 2
22 Diacetylrhein Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Immunosuppressive Agents Phase 2
25 Antifungal Agents Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Sunscreening Agents Phase 2
28 Emollients 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 Not yet 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 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 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 A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients Not yet recruiting NCT03468322 Phase 2 AC-203;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 29

Anatomical Context for Epidermolysis Bullosa Simplex

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

41
Skin, Testes, Tongue, Breast

Publications for Epidermolysis Bullosa Simplex

Articles related to Epidermolysis Bullosa Simplex:

(show top 50) (show all 366)
# Title Authors Year
1
Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment. ( 29932457 )
2018
2
Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex. ( 29574966 )
2018
3
A novel PLEC nonsense homozygous mutation (c.7159Ga88>a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
4
p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex. ( 29464779 )
2018
5
Diacerein Orphan Drug Development for Epidermolysis Bullosa Simplex: A Phase 2/3 Randomized, Placebo-Controlled, Double-Blind Clinical Trial. ( 29410318 )
2018
6
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
7
Cardiomyopathy in epidermolysis bullosa simplex patients with mutations in the KLHL24 gene. ( 29779254 )
2018
8
Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review. ( 29024068 )
2017
9
"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex. ( 28425111 )
2017
10
Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability. ( 29080682 )
2017
11
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India. ( 28925504 )
2017
12
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex. ( 28119998 )
2017
13
Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules. ( 28558912 )
2017
14
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex. ( 28659151 )
2017
15
Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. ( 28765827 )
2017
16
[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene]. ( 28777847 )
2017
17
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex. ( 28576738 )
2017
18
A novel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema. ( 29180315 )
2017
19
Epidermolysis bullosa simplex complicated by allergic contact dermatitis caused by a hydrocolloid dressing. ( 28220564 )
2017
20
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. ( 28561874 )
2017
21
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. ( 28941359 )
2017
22
Vulvar Exacerbation of Epidermolysis Bullosa Simplex: A Case Report. ( 27030882 )
2016
23
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations. ( 26929861 )
2016
24
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy. ( 27882080 )
2016
25
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology. ( 27868258 )
2016
26
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
27
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. ( 27730678 )
2016
28
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. ( 27283507 )
2016
29
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ( 28400893 )
2016
30
Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14. ( 27611893 )
2016
31
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. ( 27878870 )
2016
32
Kaposi varicelliform eruption in a patient with epidermolysis bullosa simplex generalized severe. ( 27284571 )
2016
33
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. ( 27136972 )
2016
34
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. ( 27384765 )
2016
35
Treatment of symptomatic epidermolysis bullosa simplex with botulinum toxin in a pediatric patient. ( 27486588 )
2016
36
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
37
Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness. ( 25961909 )
2015
38
Novel keratin 5 mutation in a family with epidermolysis bullosa simplex. ( 26668653 )
2015
39
Apocytolysis, a proposed mechanism of blister formation in epidermolysis bullosa simplex. ( 25822146 )
2015
40
Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. ( 26604545 )
2015
41
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
42
Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. ( 26211931 )
2015
43
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. ( 25712130 )
2015
44
A Drosophila model of Epidermolysis Bullosa Simplex. ( 25830653 )
2015
45
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. ( 25454730 )
2015
46
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
47
A fixed denture for a child with epidermolysis bullosa simplex. ( 26637257 )
2015
48
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. ( 25601422 )
2015
49
Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. ( 26264477 )
2015
50
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

Variations for Epidermolysis Bullosa Simplex

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex:

6
(show top 50) (show all 80)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT5 NM_000424.3(KRT5): c.631G> A (p.Val211Met) single nucleotide variant Likely benign rs147498164 GRCh37 Chromosome 12, 52912869: 52912869
2 KRT5 NM_000424.3(KRT5): c.631G> A (p.Val211Met) single nucleotide variant Likely benign rs147498164 GRCh38 Chromosome 12, 52519085: 52519085
3 KRT5 NM_000424.3(KRT5): c.556-15C> T single nucleotide variant Benign rs60314569 GRCh38 Chromosome 12, 52519175: 52519175
4 KRT5 NM_000424.3(KRT5): c.556-15C> T single nucleotide variant Benign rs60314569 GRCh37 Chromosome 12, 52912959: 52912959
5 KRT5 NM_000424.3(KRT5): c.351C> T (p.Leu117=) single nucleotide variant Benign rs11549951 GRCh38 Chromosome 12, 52519946: 52519946
6 KRT5 NM_000424.3(KRT5): c.351C> T (p.Leu117=) single nucleotide variant Benign rs11549951 GRCh37 Chromosome 12, 52913730: 52913730
7 KRT5 NM_000424.3(KRT5): c.156G> A (p.Ala52=) single nucleotide variant Benign/Likely benign rs74093478 GRCh38 Chromosome 12, 52520141: 52520141
8 KRT5 NM_000424.3(KRT5): c.156G> A (p.Ala52=) single nucleotide variant Benign/Likely benign rs74093478 GRCh37 Chromosome 12, 52913925: 52913925
9 KRT5 NM_000424.3(KRT5): c.30G> A (p.Arg10=) single nucleotide variant Likely benign rs61747182 GRCh38 Chromosome 12, 52520267: 52520267
10 KRT5 NM_000424.3(KRT5): c.30G> A (p.Arg10=) single nucleotide variant Likely benign rs61747182 GRCh37 Chromosome 12, 52914051: 52914051
11 KRT5 NM_000424.3(KRT5): c.*323T> C single nucleotide variant Likely benign rs550268995 GRCh37 Chromosome 12, 52908403: 52908403
12 KRT5 NM_000424.3(KRT5): c.*323T> C single nucleotide variant Likely benign rs550268995 GRCh38 Chromosome 12, 52514619: 52514619
13 KRT5 NM_000424.3(KRT5): c.*59C> T single nucleotide variant Uncertain significance rs886049624 GRCh37 Chromosome 12, 52908667: 52908667
14 KRT5 NM_000424.3(KRT5): c.*59C> T single nucleotide variant Uncertain significance rs886049624 GRCh38 Chromosome 12, 52514883: 52514883
15 KRT5 NM_000424.3(KRT5): c.1705G> A (p.Gly569Arg) single nucleotide variant Likely benign rs148276250 GRCh38 Chromosome 12, 52515010: 52515010
16 KRT5 NM_000424.3(KRT5): c.1705G> A (p.Gly569Arg) single nucleotide variant Likely benign rs148276250 GRCh37 Chromosome 12, 52908794: 52908794
17 KRT5 NM_000424.3(KRT5): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs202104381 GRCh38 Chromosome 12, 52515140: 52515140
18 KRT5 NM_000424.3(KRT5): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs202104381 GRCh37 Chromosome 12, 52908924: 52908924
19 KRT5 NM_000424.3(KRT5): c.1554C> A (p.Gly518=) single nucleotide variant Benign/Likely benign rs144226740 GRCh38 Chromosome 12, 52515161: 52515161
20 KRT5 NM_000424.3(KRT5): c.1554C> A (p.Gly518=) single nucleotide variant Benign/Likely benign rs144226740 GRCh37 Chromosome 12, 52908945: 52908945
21 KRT5 NM_000424.3(KRT5): c.381C> T (p.Phe127=) single nucleotide variant Likely benign rs150390099 GRCh38 Chromosome 12, 52519916: 52519916
22 KRT5 NM_000424.3(KRT5): c.381C> T (p.Phe127=) single nucleotide variant Likely benign rs150390099 GRCh37 Chromosome 12, 52913700: 52913700
23 KRT5 NM_000424.3(KRT5): c.381C> A (p.Phe127Leu) single nucleotide variant Uncertain significance rs150390099 GRCh38 Chromosome 12, 52519916: 52519916
24 KRT5 NM_000424.3(KRT5): c.381C> A (p.Phe127Leu) single nucleotide variant Uncertain significance rs150390099 GRCh37 Chromosome 12, 52913700: 52913700
25 KRT5 NM_000424.3(KRT5): c.357C> A (p.Gly119=) single nucleotide variant Uncertain significance rs138218183 GRCh38 Chromosome 12, 52519940: 52519940
26 KRT5 NM_000424.3(KRT5): c.357C> A (p.Gly119=) single nucleotide variant Uncertain significance rs138218183 GRCh37 Chromosome 12, 52913724: 52913724
27 KRT5 NM_000424.3(KRT5): c.259T> G (p.Phe87Val) single nucleotide variant Likely benign rs61747188 GRCh38 Chromosome 12, 52520038: 52520038
28 KRT5 NM_000424.3(KRT5): c.259T> G (p.Phe87Val) single nucleotide variant Likely benign rs61747188 GRCh37 Chromosome 12, 52913822: 52913822
29 KRT5 NM_000424.3(KRT5): c.123C> T (p.Gly41=) single nucleotide variant Uncertain significance rs769626917 GRCh38 Chromosome 12, 52520174: 52520174
30 KRT5 NM_000424.3(KRT5): c.123C> T (p.Gly41=) single nucleotide variant Uncertain significance rs769626917 GRCh37 Chromosome 12, 52913958: 52913958
31 KRT5 NM_000424.3(KRT5): c.39C> T (p.Gly13=) single nucleotide variant Likely benign rs116931869 GRCh38 Chromosome 12, 52520258: 52520258
32 KRT5 NM_000424.3(KRT5): c.39C> T (p.Gly13=) single nucleotide variant Likely benign rs116931869 GRCh37 Chromosome 12, 52914042: 52914042
33 KRT5 NM_000424.3(KRT5): c.-69C> T single nucleotide variant Uncertain significance rs886049626 GRCh38 Chromosome 12, 52520365: 52520365
34 KRT5 NM_000424.3(KRT5): c.-69C> T single nucleotide variant Uncertain significance rs886049626 GRCh37 Chromosome 12, 52914149: 52914149
35 KRT5 NM_000424.3(KRT5): c.-73T> C single nucleotide variant Benign rs3741725 GRCh37 Chromosome 12, 52914153: 52914153
36 KRT5 NM_000424.3(KRT5): c.-73T> C single nucleotide variant Benign rs3741725 GRCh38 Chromosome 12, 52520369: 52520369
37 KRT5 NM_000424.3(KRT5): c.-109C> T single nucleotide variant Uncertain significance rs534901190 GRCh37 Chromosome 12, 52914189: 52914189
38 KRT5 NM_000424.3(KRT5): c.-109C> T single nucleotide variant Uncertain significance rs534901190 GRCh38 Chromosome 12, 52520405: 52520405
39 KRT5 NM_000424.3(KRT5): c.*263T> C single nucleotide variant Likely benign rs543314808 GRCh37 Chromosome 12, 52908463: 52908463
40 KRT5 NM_000424.3(KRT5): c.*263T> C single nucleotide variant Likely benign rs543314808 GRCh38 Chromosome 12, 52514679: 52514679
41 KRT5 NM_000424.3(KRT5): c.*134A> G single nucleotide variant Uncertain significance rs568942940 GRCh37 Chromosome 12, 52908592: 52908592
42 KRT5 NM_000424.3(KRT5): c.*134A> G single nucleotide variant Uncertain significance rs568942940 GRCh38 Chromosome 12, 52514808: 52514808
43 KRT5 NM_000424.3(KRT5): c.1475-6C> T single nucleotide variant Likely benign rs142320369 GRCh37 Chromosome 12, 52909030: 52909030
44 KRT5 NM_000424.3(KRT5): c.1475-6C> T single nucleotide variant Likely benign rs142320369 GRCh38 Chromosome 12, 52515246: 52515246
45 KRT5 NM_000424.3(KRT5): c.-81C> T single nucleotide variant Uncertain significance rs886049627 GRCh37 Chromosome 12, 52914161: 52914161
46 KRT5 NM_000424.3(KRT5): c.-81C> T single nucleotide variant Uncertain significance rs886049627 GRCh38 Chromosome 12, 52520377: 52520377
47 KRT5 NM_000424.3(KRT5): c.*320T> A single nucleotide variant Uncertain significance rs886049623 GRCh37 Chromosome 12, 52908406: 52908406
48 KRT5 NM_000424.3(KRT5): c.*320T> A single nucleotide variant Uncertain significance rs886049623 GRCh38 Chromosome 12, 52514622: 52514622
49 KRT5 NM_000424.3(KRT5): c.*253C> T single nucleotide variant Benign rs6603 GRCh37 Chromosome 12, 52908473: 52908473
50 KRT5 NM_000424.3(KRT5): c.*253C> T single nucleotide variant Benign rs6603 GRCh38 Chromosome 12, 52514689: 52514689

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 9.87 DST ITGB4 KRT1 KRT10 KRT14 KRT5
2 cell junction GO:0030054 9.55 COL17A1 DST ITGB4 KLHL24 PLEC
3 keratin filament GO:0045095 9.43 KRT1 KRT14 KRT5
4 cornified envelope GO:0001533 9.4 KRT1 KRT10
5 cell leading edge GO:0031252 9.37 DST ITGB4
6 intermediate filament GO:0005882 9.35 DST KRT1 KRT10 KRT14 KRT5
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 epidermis development GO:0008544 9.43 COL17A1 KRT14 KRT5
3 peptide cross-linking GO:0018149 9.37 KRT1 KRT10
4 cell motility GO:0048870 9.32 DST ITGB4
5 cornification GO:0070268 9.26 KRT1 KRT10 KRT14 KRT5
6 hemidesmosome assembly GO:0031581 9.02 COL17A1 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 8.62 KRT1 KRT10

Sources for Epidermolysis Bullosa Simplex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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