WC-EBS
MCID: EPD030
MIFTS: 48

Epidermolysis Bullosa Simplex, Localized (WC-EBS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Localized

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Localized:

Name: Epidermolysis Bullosa Simplex, Localized 57 20 72
Epidermolysis Bullosa Simplex, Weber-Cockayne Type 57 20 58 72 6
Epidermolysis Bullosa of Hands and Feet 57 20 72 13
Localized Epidermolysis Bullosa Simplex 58 29 6
Epidermolysis Bullosa Simplex of Palms and Soles 20 58
Epidermolysis Bullosa Simplex Localized Type 12 15
Weber-Cockayne Syndrome 20 70
Ebs, Acral Form 57 72
Ebs-Loc 20 58
Epidermolysis Bullosa Simplex Weber-Cockayne Type 12
Weber-Cockayne Type Epidermolysis Bullosa Simplex 20
Localized Ebs 58
Wc-Ebs 72

Characteristics:

Orphanet epidemiological data:

58
localized epidermolysis bullosa simplex
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
disease exacerbation during summer due to heat
onset in early childhood or adolescence
early adult onset has been reported


HPO:

31
epidermolysis bullosa simplex, localized:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080510
OMIM® 57 131800
MeSH 44 D016110
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 71 C0080333
Orphanet 58 ORPHA79400
MedGen 41 C0080333
UMLS 70 C0080333

Summaries for Epidermolysis Bullosa Simplex, Localized

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79400 Definition Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. Epidemiology Reported prevalence ranges from 1/318,000 for localized EBS in the United States to 1/35,000 for localized EBS and non-Dowling-Meara generalized EBS (combined) in Scotland. About two-thirds of EBS patients have the localized basal form. Clinical description Onset is usually in late infancy or early childhood. The usual distribution of blisters in these patients is on the palms and soles, although other skin surfaces may also blister if subjected to significant trauma. Milia and scarring are rare in localized EBS, and dystrophic nails are uncommon. Focal keratoderma of the palms and soles may occur by adulthood in some patients. The only common extracutaneous finding in localized EBS, i.e. localized intraoral erosions or blisters, tends to be asymptomatic, occurs in about one third of patients, and is usually seen only during infancy. Etiology Localized EBS is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively. Genetic counseling Transmission is autosomal dominant and sporadic cases are frequent. Prognosis Although the disease can be disabling, life-expectancy is normal.

MalaCards based summary : Epidermolysis Bullosa Simplex, Localized, also known as epidermolysis bullosa simplex, weber-cockayne type, is related to epidermolysis bullosa simplex, generalized and skin disease. An important gene associated with Epidermolysis Bullosa Simplex, Localized is KRT5 (Keratin 5), and among its related pathways/superpathways are Adhesion and Glucocorticoid receptor regulatory network. The drugs Acetylcholine and Hydroxyzine have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and tonsil, and related phenotypes are bruising susceptibility and hyperhidrosis

Disease Ontology : 12 An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet.

OMIM® : 57 Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (131900) and the more severe Dowling-Meara type (131760). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008). (131800) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Epidermolysis bullosa simplex, Weber-Cockayne type: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.

Related Diseases for Epidermolysis Bullosa Simplex, Localized

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, Localized via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, generalized 31.1 PLEC KRT5 KRT14
2 skin disease 29.1 PLEC KRT5 KRT14 ITGB4 GALK1
3 epidermolysis bullosa 28.8 PLEC KRT5 KRT14 ITGB4 GALK1
4 epidermolysis bullosa simplex 28.8 PLEC KRT5 KRT14 ITGB4 GALK1
5 epidermolysis bullosa simplex, ogna type 11.2
6 aging 10.2
7 gingivitis 10.2
8 chronic pain 10.2
9 keratosis 10.1 KRT5 KRT14
10 ceruminous adenocarcinoma 10.1 KRT5 KRT14
11 benign breast adenomyoepithelioma 10.1 KRT5 KRT14
12 breast adenomyoepithelioma 10.1 KRT5 KRT14
13 micronodular basal cell carcinoma 10.1 KRT5 KRT14
14 breast myoepithelial neoplasm 10.1 KRT5 KRT14
15 breast myoepithelial carcinoma 10.1 KRT5 KRT14
16 squamous cell bile duct carcinoma 10.1 KRT5 KRT14
17 breast metaplastic carcinoma 10.1 KRT5 KRT14
18 large cell acanthoma 10.1 KRT5 KRT14
19 epidermolysis bullosa simplex, autosomal recessive 1 10.1 KRT5 KRT14
20 odontoma 10.1 KRT5 KRT14
21 lipid-rich carcinoma 10.1 KRT5 KRT14
22 eccrine papillary adenocarcinoma 10.1 KRT5 KRT14
23 eccrine sweat gland neoplasm 10.0 KRT5 KRT14
24 esophageal adenosquamous carcinoma 10.0 KRT5 KRT14
25 clear cell basal cell carcinoma 10.0 KRT5 KRT14
26 intracystic papillary adenoma 10.0 KRT5 KRT14
27 apocrine sweat gland neoplasm 10.0 KRT5 KRT14
28 cystic basal cell carcinoma 10.0 KRT5 KRT14
29 intraductal breast benign neoplasm 10.0 KRT5 KRT14
30 breast benign neoplasm 10.0 KRT5 KRT14
31 synchronous bilateral breast carcinoma 10.0 KRT5 KRT14
32 benign peritoneal mesothelioma 10.0 KRT5 KRT14
33 eccrine papillary adenoma 10.0 KRT5 KRT14
34 hair follicle neoplasm 10.0 KRT5 KRT14
35 intraductal papilloma 10.0 KRT5 KRT14
36 papilloma 10.0 KRT5 KRT14
37 borst-jadassohn intraepidermal carcinoma 10.0 KRT5 KRT14
38 sweat gland benign neoplasm 10.0 KRT5 KRT14
39 sebaceous adenocarcinoma 10.0 KRT5 KRT14
40 sweat gland disease 10.0 KRT5 KRT14
41 thoracic benign neoplasm 10.0 KRT5 KRT14
42 tonsil cancer 10.0 KRT5 KRT14
43 dowling-degos disease 10.0 KRT5 KRT14
44 oropharynx cancer 10.0 KRT5 KRT14
45 primary cutaneous amyloidosis 9.9 KRT5 KRT14
46 skin benign neoplasm 9.9 KRT5 KRT14
47 pre-malignant neoplasm 9.9 KRT5 KRT14
48 breast carcinoma in situ 9.9 KRT5 KRT14
49 craniopharyngioma 9.9 KRT5 KRT14
50 ductal carcinoma in situ 9.8 KRT5 KRT14

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



Diseases related to Epidermolysis Bullosa Simplex, Localized

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Localized

Human phenotypes related to Epidermolysis Bullosa Simplex, Localized:

31 58 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bruising susceptibility 31 hallmark (90%) HP:0000978
2 hyperhidrosis 58 31 frequent (33%) Occasional (29-5%) HP:0000975
3 nail dystrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0008404
4 milia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001056
5 atrophic scars 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001075
6 oral mucosal blisters 58 31 occasional (7.5%) Very rare (<4-1%) HP:0200097
7 hyperkeratosis 31 occasional (7.5%) HP:0000962
8 palmoplantar keratoderma 31 occasional (7.5%) HP:0000982
9 palmoplantar blistering 58 31 Very frequent (99-80%) HP:0007446
10 paresthesia 58 Frequent (79-30%)
11 pruritus 58 Very frequent (99-80%)
12 abnormal blistering of the skin 58 Very frequent (99-80%)
13 skin erosion 58 Occasional (29-5%)
14 plantar hyperkeratosis 58 Occasional (29-5%)
15 focal friction-related palmoplantar hyperkeratosis 58 Very frequent (99-80%)
16 skin plaque 58 Frequent (79-30%)
17 junctional split 58 Very frequent (99-80%)
18 skin fragility with non-scarring blistering 58 Very frequent (99-80%)
19 mixed hypo- and hyperpigmentation of the skin 58 Excluded (0%)
20 palmar hyperkeratosis 58 Occasional (29-5%)
21 foot pain 58 Very frequent (99-80%)
22 heat intolerance 58 Frequent (79-30%)
23 acute episodes of neuropathic symptoms 58 Frequent (79-30%)
24 upper limb pain 58 Frequent (79-30%)
25 erosion of oral mucosa 58 Occasional (29-5%)
26 erythematous papule 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Electron Microscopy:
cleavage within basal keratinocytes

Skin Nails Hair Skin:
blistering, recurrent, of the palms and soles
atrophic scarring (rare)
milia (rare)
hyperkeratosis, focal, on the palms and soles (in adulthood in some)

Clinical features from OMIM®:

131800 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex, Localized:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ITGB4 KRT14 KRT5 PLEC

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Localized

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2
Hydroxyzine Approved Phase 2, Phase 3 68-88-2 3658
3
Oxycodone Approved, Illicit, Investigational Phase 2, Phase 3 76-42-6 5284603
4
Prilocaine Approved Phase 2, Phase 3 721-50-6 4906
5
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
6 Anti-Infective Agents, Local Phase 2, Phase 3
7 abobotulinumtoxinA Phase 2, Phase 3
8 Anesthetics Phase 2, Phase 3
9 Cholinergic Agents Phase 2, Phase 3
10 Neurotransmitter Agents Phase 2, Phase 3
11 Botulinum Toxins, Type A Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy of Injections of Botulinic Toxin in Plantar Lesions of Patients Suffering From Localized Epidermolysis Bullosa Simplex : Double Blind Randomized Controlled Study. Recruiting NCT03453632 Phase 2, Phase 3 Botulinic toxin;Placebo

Search NIH Clinical Center for Epidermolysis Bullosa Simplex, Localized

Genetic Tests for Epidermolysis Bullosa Simplex, Localized

Genetic tests related to Epidermolysis Bullosa Simplex, Localized:

# Genetic test Affiliating Genes
1 Localized Epidermolysis Bullosa Simplex 29 ITGB4 KRT14 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex, Localized

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Localized:

40
Breast, Skin, Tonsil

Publications for Epidermolysis Bullosa Simplex, Localized

Articles related to Epidermolysis Bullosa Simplex, Localized:

(show all 43)
# Title Authors PMID Year
1
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. 57 6
16098032 2005
2
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 57 6
12485428 2002
3
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. 57 6
11973334 2002
4
A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne. 6 57
7537780 1995
5
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. 6 57
7520042 1994
6
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. 57 6
7506606 1993
7
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. 57 6
7688477 1993
8
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic. 6
26707537 2016
9
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
10
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 6
21623745 2011
11
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 6
20199538 2010
12
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. 6
20151404 2010
13
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
20108434 2010
14
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex. 57
19267394 2009
15
Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. 6
18384561 2008
16
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 57
18374450 2008
17
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. 6
17855059 2007
18
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. 6
17039244 2007
19
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 6
16882168 2006
20
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 6
16465624 2006
21
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. 6
12925204 2003
22
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. 6
12648226 2003
23
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 6
11851880 2002
24
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 6
11407988 2001
25
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 6
10484780 1999
26
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote. 6
9284105 1997
27
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 6
9036937 1997
28
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 6
8799157 1996
29
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. 6
8601736 1996
30
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland. 6
8807337 1996
31
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. 6
7561171 1995
32
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5. 6
8595431 1995
33
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 6
7686424 1993
34
Linkage of epidermolysis bullosa simplex to keratin gene loci. 57
1381443 1992
35
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. 57
1720261 1991
36
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 6
1717157 1991
37
Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety. 57
2539587 1989
38
Localized epidermolysis bullosa. 57
13740079 1961
39
Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review. 61
33562846 2021
40
Localized epidermolysis bullosa simplex (Weber-Cockayne type). 61
22206097 2011
41
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. 61
19153338 2009
42
A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist. 61
17549391 2007
43
Epidermolysis bullosa simplex: localized (Weber-Cockayne type). 61
15690931 2004

Variations for Epidermolysis Bullosa Simplex, Localized

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Localized:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT14 NM_000526.5(KRT14):c.1123_1125del (p.Glu375del) Deletion Pathogenic 66301 rs56974573 GRCh37: 17:39739636-39739638
GRCh38: 17:41583384-41583386
2 KRT14 NM_000526.5(KRT14):c.357G>A (p.Met119Ile) SNV Pathogenic 14620 rs57358989 GRCh37: 17:39742730-39742730
GRCh38: 17:41586478-41586478
3 KRT5 NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) SNV Pathogenic 14640 rs58058996 GRCh37: 12:52913599-52913599
GRCh38: 12:52519815-52519815
4 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
5 KRT5 NM_000424.4(KRT5):c.987C>A (p.Asn329Lys) SNV Pathogenic 14642 rs59730172 GRCh37: 12:52911479-52911479
GRCh38: 12:52517695-52517695
6 KRT5 NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) SNV Pathogenic 14644 rs60586163 GRCh37: 12:52912921-52912921
GRCh38: 12:52519137-52519137
7 KRT5 KRT5, 1-BP DEL, 1635G Deletion Pathogenic 14651 GRCh37:
GRCh38:
8 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic 14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
9 ITGB4 ITGB4, 2-BP DEL, 4733CT Deletion Pathogenic 14741 GRCh37:
GRCh38:
10 KRT5 NM_000424.4(KRT5):c.991C>T (p.Arg331Cys) SNV Pathogenic 66298 rs61297109 GRCh37: 12:52911475-52911475
GRCh38: 12:52517691-52517691
11 KRT14 NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) SNV Pathogenic 14612 rs60399023 GRCh37: 17:39742714-39742714
GRCh38: 17:41586462-41586462
12 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
13 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic 21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
14 KRT5 NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) SNV Pathogenic 14648 rs57499817 GRCh37: 12:52914007-52914007
GRCh38: 12:52520223-52520223
15 KRT5 NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) SNV Pathogenic 66246 rs267607456 GRCh37: 12:52913586-52913586
GRCh38: 12:52519802-52519802
16 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic 14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
17 KRT5 NM_000424.4(KRT5):c.556-16C>G SNV Pathogenic 1047955 GRCh37: 12:52912960-52912960
GRCh38: 12:52519176-52519176
18 KRT5 NM_000424.4(KRT5):c.556G>A (p.Val186Met) SNV Pathogenic 66267 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
19 KRT5 NM_000424.4(KRT5):c.556G>T (p.Val186Leu) SNV Pathogenic 14652 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
20 KRT5 NM_000424.4(KRT5):c.557T>A (p.Val186Glu) SNV Pathogenic 66268 rs267607457 GRCh37: 12:52912943-52912943
GRCh38: 12:52519159-52519159
21 KRT5 NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) SNV Pathogenic 1047987 GRCh37: 12:52912929-52912929
GRCh38: 12:52519145-52519145
22 KRT5 NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) SNV Pathogenic 14644 rs60586163 GRCh37: 12:52912921-52912921
GRCh38: 12:52519137-52519137
23 KRT5 NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) SNV Pathogenic 1047988 GRCh37: 12:52912913-52912913
GRCh38: 12:52519129-52519129
24 KRT5 NM_000424.4(KRT5):c.771delG Deletion Pathogenic 1047989 GRCh37: 12:52911947-52911947
GRCh38: 12:52518163-52518163
25 KRT5 NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) SNV Pathogenic 1047990 GRCh37: 12:52911505-52911505
GRCh38: 12:52517721-52517721
26 KRT5 NM_000424.4(KRT5):c.983A>T (p.Asp328Val) SNV Pathogenic 66293 rs57142010 GRCh37: 12:52911483-52911483
GRCh38: 12:52517699-52517699
27 KRT5 NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) SNV Pathogenic 66202 rs267607458 GRCh37: 12:52910578-52910578
GRCh38: 12:52516794-52516794
28 KRT5 NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) SNV Pathogenic 66203 rs59243757 GRCh37: 12:52910577-52910577
GRCh38: 12:52516793-52516793
29 KRT5 NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) SNV Pathogenic 14639 rs57599352 GRCh37: 12:52910472-52910472
GRCh38: 12:52516688-52516688
30 KRT5 NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) SNV Pathogenic 1047991 GRCh37: 12:52910464-52910464
GRCh38: 12:52516680-52516680
31 KRT5 NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) SNV Pathogenic 66208 rs62642056 GRCh37: 12:52910462-52910462
GRCh38: 12:52516678-52516678
32 KRT5 NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) SNV Pathogenic 1047992 GRCh37: 12:52910454-52910454
GRCh38: 12:52516670-52516670
33 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic 21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
34 KRT5 NM_000424.4(KRT5):c.1649del (p.Gly550fs) Deletion Pathogenic 14655 rs61126080 GRCh37: 12:52908850-52908850
GRCh38: 12:52515066-52515066
35 KRT14 NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) SNV Pathogenic 66339 rs60338701 GRCh37: 17:39742741-39742741
GRCh38: 17:41586489-41586489
36 KRT14 NM_000526.5(KRT14):c.397G>T (p.Val133Leu) SNV Pathogenic 66358 rs61027685 GRCh37: 17:39742690-39742690
GRCh38: 17:41586438-41586438
37 KRT14 NM_000526.5(KRT14):c.749del (p.Lys250fs) Deletion Pathogenic 66375 rs267607406 GRCh37: 17:39740525-39740525
GRCh38: 17:41584273-41584273
38 KRT14 NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) SNV Pathogenic 1048024 GRCh37: 17:39739617-39739617
GRCh38: 17:41583365-41583365
39 KRT14 NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) SNV Pathogenic 1048025 GRCh37: 17:39739556-39739556
GRCh38: 17:41583304-41583304
40 KRT14 NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) SNV Pathogenic 1048026 GRCh37: 17:39739538-39739538
GRCh38: 17:41583286-41583286
41 KRT14 NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) Deletion Pathogenic 66316 rs267607389 GRCh37: 17:39739528-39739530
GRCh38: 17:41583276-41583278
42 KRT14 NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) SNV Pathogenic 66322 rs59442925 GRCh37: 17:39739517-39739517
GRCh38: 17:41583265-41583265
43 KRT14 NM_000526.5(KRT14):c.1274+5G>C SNV Pathogenic 1048027 GRCh37: 17:39739482-39739482
GRCh38: 17:41583230-41583230
44 PLEC NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) SNV Pathogenic 1048028 GRCh37: 8:145001240-145001240
GRCh38: 8:143927072-143927072
45 PLEC NM_201384.3(PLEC):c.5663del (p.Lys1888fs) Deletion Pathogenic 1048029 GRCh37: 8:144998434-144998434
GRCh38: 8:143924266-143924266
46 PLEC NM_201384.3(PLEC):c.9294del (p.Glu3099fs) Deletion Pathogenic 1048030 GRCh37: 8:144994695-144994695
GRCh38: 8:143920527-143920527
47 KRT14 NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) SNV Pathogenic 66353 rs60470268 GRCh37: 17:39742702-39742702
GRCh38: 17:41586450-41586450
48 KRT5 NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) Deletion Likely pathogenic 623145 rs1565593355 GRCh37: 12:52911901-52911901
GRCh38: 12:52518117-52518117
49 GALK1 , ITGB4 NM_000213.5(ITGB4):c.5329+2T>C SNV Likely pathogenic 225396 rs762236241 GRCh37: 17:73753393-73753393
GRCh38: 17:75757312-75757312
50 KRT5 NM_000424.4(KRT5):c.*334A>G SNV Uncertain significance 880775 GRCh37: 12:52908392-52908392
GRCh38: 12:52514608-52514608

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex, Localized:

72 (show all 39)
# Symbol AA change Variation ID SNP ID
1 KRT14 p.Val270Met VAR_003840 rs58560979
2 KRT14 p.Lys116Asn VAR_010438 rs59271739
3 KRT14 p.Asp273Gly VAR_010448 rs59375065
4 KRT14 p.Ala274Asp VAR_010449 rs58785777
5 KRT14 p.Ile377Asn VAR_010450 rs61536893
6 KRT14 p.Arg388Cys VAR_010451 rs59966597
7 KRT14 p.Glu422Lys VAR_010452 rs58762773
8 KRT14 p.Met119Val VAR_023719 rs61263401
9 KRT14 p.Val133Leu VAR_023723 rs61027685
10 KRT14 p.Leu408Met VAR_023724 rs57200223
11 KRT14 p.Arg211Pro VAR_027718 rs60589227
12 KRT14 p.Arg148Cys VAR_031636 rs58378809
13 KRT14 p.Arg388His VAR_031637 rs58645163
14 KRT14 p.Tyr415Cys VAR_031638 rs59442925
15 KRT5 p.Ile161Ser VAR_003872 rs58058996
16 KRT5 p.Asn193Lys VAR_003873 rs60586163
17 KRT5 p.Met327Thr VAR_003874 rs58072617
18 KRT5 p.Arg331Cys VAR_003875 rs61297109
19 KRT5 p.Pro152Leu VAR_010454 rs60617604
20 KRT5 p.Met327Lys VAR_010462 rs58072617
21 KRT5 p.Asp328His VAR_010463 rs56790237
22 KRT5 p.Asp328Val VAR_010464 rs57142010
23 KRT5 p.Asn329Lys VAR_010465 rs59730172
24 KRT5 p.Lys404Glu VAR_023726 rs60809982
25 KRT5 p.Ala438Asp VAR_023727 rs57845028
26 KRT5 p.Glu167Lys VAR_026536 rs57378129
27 KRT5 p.Asn177Ser VAR_026538 rs61495052
28 KRT5 p.Lys199Thr VAR_026539 rs58766676
29 KRT5 p.Leu311Pro VAR_026540 rs59864957
30 KRT5 p.Val324Asp VAR_026541 rs59335325
31 KRT5 p.Asp328Glu VAR_026542 rs59464425
32 KRT5 p.Asp328Gly VAR_026543 rs57142010
33 KRT5 p.Glu190Lys VAR_027724 rs58976397
34 KRT5 p.Arg331His VAR_027725 rs56729325
35 KRT5 p.Asp158Val VAR_031641 rs61222761
36 KRT5 p.Arg352Ser VAR_031644 rs59112594
37 KRT5 p.Val186Glu VAR_071631 rs267607457
38 KRT5 p.Thr321Pro VAR_071632
39 KRT5 p.Ala428Thr VAR_071633 rs267607458

Expression for Epidermolysis Bullosa Simplex, Localized

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Localized.

Pathways for Epidermolysis Bullosa Simplex, Localized

Pathways related to Epidermolysis Bullosa Simplex, Localized according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.25 PLEC ITGB4
2 10.87 KRT5 KRT14
3
Show member pathways
10.83 PLEC KRT5 KRT14

GO Terms for Epidermolysis Bullosa Simplex, Localized

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.35 PLEC KRT5 KRT14 ITGB4 GALK1
2 intermediate filament GO:0005882 9.33 PLEC KRT5 KRT14
3 keratin filament GO:0045095 9.26 KRT5 KRT14
4 hemidesmosome GO:0030056 8.62 PLEC ITGB4

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

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.16 KRT5 KRT14
2 epidermis development GO:0008544 8.96 KRT5 KRT14
3 hemidesmosome assembly GO:0031581 8.92 PLEC KRT5 KRT14 ITGB4

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.8 PLEC KRT5 KRT14

Sources for Epidermolysis Bullosa Simplex, Localized

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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