EBSB1
MCID: EPD080
MIFTS: 36

Epidermolysis Bullosa Simplex, Autosomal Recessive 1 (EBSB1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

Name: Epidermolysis Bullosa Simplex, Autosomal Recessive 1 58 76 74
Ebsb1 58 76
Krt14-Related Autosomal Recessive Epidermolysis Bullosa Simplex 60
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 1 41
Epidermolysis Bullosa Simplex, Autosomal Recessive K14 60
Epidermolysis Bullosa Simplex, Recessive 1 58
Krt14-Related Autosomal Recessive Ebs 60
Ebs, Autosomal Recessive K14 60
Ebs-Ar Krt14 60

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex, autosomal recessive k14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
disease exacerbation during summer due to heat
onset at birth or early childhood
heterozygotes are not affected
blistering tends to improve with age


HPO:

33
epidermolysis bullosa simplex, autosomal recessive 1:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

OMIM : 58 Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., 131800, 131760, and 131900), but autosomal recessive inheritance has been described (Fine et al., 2008). (601001)

MalaCards based summary : Epidermolysis Bullosa Simplex, Autosomal Recessive 1, also known as ebsb1, is related to benign breast adenomyoepithelioma and breast adenomyoepithelioma, and has symptoms including pachyonychia An important gene associated with Epidermolysis Bullosa Simplex, Autosomal Recessive 1 is KRT14 (Keratin 14), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, breast and tonsil, and related phenotypes are abnormal blistering of the skin and atrophic scars

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa simplex, autosomal recessive 1: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering and cleavage within basal keratinocytes, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma.

Related Diseases for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

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, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 benign breast adenomyoepithelioma 9.9 KRT14 KRT5
2 breast adenomyoepithelioma 9.9 KRT14 KRT5
3 lichen planopilaris 9.9 KRT14 KRT5
4 epidermolysis bullosa 9.9 KRT14 KRT5
5 epidermolysis bullosa simplex 9.9 KRT14 KRT5
6 large cell acanthoma 9.9 KRT14 KRT5
7 apocrine sweat gland neoplasm 9.9 KRT14 KRT5
8 epidermolysis bullosa simplex, localized 9.9 KRT14 KRT5
9 epidermolysis bullosa simplex, generalized 9.9 KRT14 KRT5
10 breast squamous cell carcinoma 9.9 KRT14 KRT5
11 epidermolysis bullosa simplex with mottled pigmentation 9.9 KRT14 KRT5
12 cervical clear cell adenocarcinoma 9.9 KRT14 KRT5
13 odontoma 9.9 KRT14 KRT5
14 breast myoepithelial neoplasm 9.9 KRT14 KRT5
15 vesiculobullous skin disease 9.9 KRT14 KRT5
16 skin disease 9.9 KRT14 KRT5
17 breast benign neoplasm 9.9 KRT14 KRT5
18 thoracic benign neoplasm 9.9 KRT14 KRT5
19 lipoadenoma 9.9 KRT14 KRT5
20 epidermolysis bullosa simplex, dowling-meara type 9.9 KRT14 KRT5
21 lipid-rich carcinoma 9.9 KRT14 KRT5
22 pregnancy adenoma 9.9 KRT14 KRT5
23 sweat gland disease 9.8 KRT14 KRT5
24 intraneural perineurioma 9.8 KRT14 KRT5
25 tonsil cancer 9.8 KRT14 KRT5
26 pre-malignant neoplasm 9.8 KRT14 KRT5
27 oropharynx cancer 9.8 KRT14 KRT5
28 in situ carcinoma 9.8 KRT14 KRT5
29 spindle cell carcinoma 9.8 KRT14 KRT5
30 primary cutaneous amyloidosis 9.8 KRT14 KRT5
31 skin benign neoplasm 9.8 KRT14 KRT5
32 dowling-degos disease 9.8 KRT14 KRT5
33 sweat gland cancer 9.7 KRT14 KRT5
34 ductal carcinoma in situ 9.7 KRT14 KRT5
35 papilloma 9.7 KRT14 KRT5
36 adenoid cystic carcinoma 9.6 KRT14 KRT5
37 cervical cancer 9.5 KRT14 KRT5

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1:



Diseases related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Human phenotypes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
2 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
3 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
4 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
5 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
6 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
7 hypoplasia of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0006297
8 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
9 milia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001056
10 ridged nail 33 HP:0001807
11 onychogryposis 33 HP:0001805

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
thickened nails
ridged nails

Head And Neck Mouth:
oral blistering

Skin Nails Hair Skin:
blistering, recurrent
atrophic scarring (less common)
cleavage within basal keratinocytes
epidermolysis bullosa simplex
blistering may be generalized or localized

Clinical features from OMIM:

601001

UMLS symptoms related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1:


pachyonychia

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Genetic Tests for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Anatomical Context for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

42
Skin, Breast, Tonsil

Publications for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Articles related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

# Title Authors Year
1
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. ( 11973334 )
2002
2
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. ( 10971341 )
2000
3
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote. ( 9284105 )
1997
4
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. ( 8875963 )
1996
5
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. ( 7561171 )
1995
6
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. ( 7525408 )
1994
7
A functional "knockout" of human keratin 14. ( 7525407 )
1994
8
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. ( 7526933 )
1993

Variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

76
# Symbol AA change Variation ID SNP ID
1 KRT14 p.Glu144Ala VAR_003839 rs57121345
2 KRT5 p.Glu170Lys VAR_026537 rs59115483
3 KRT5 p.Glu418Lys VAR_026544 rs121912476

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT14 NM_000526.4(KRT14): c.431A> C (p.Glu144Ala) single nucleotide variant Pathogenic rs57121345 GRCh37 Chromosome 17, 39742656: 39742656
2 KRT14 NM_000526.4(KRT14): c.431A> C (p.Glu144Ala) single nucleotide variant Pathogenic rs57121345 GRCh38 Chromosome 17, 41586404: 41586404
3 KRT14 NM_000526.4(KRT14): c.612T> A (p.Tyr204Ter) single nucleotide variant Pathogenic rs60725382 GRCh37 Chromosome 17, 39740662: 39740662
4 KRT14 NM_000526.4(KRT14): c.612T> A (p.Tyr204Ter) single nucleotide variant Pathogenic rs60725382 GRCh38 Chromosome 17, 41584410: 41584410
5 KRT14 NM_000526.4(KRT14): c.357G> A (p.Met119Ile) single nucleotide variant Pathogenic rs57358989 GRCh37 Chromosome 17, 39742730: 39742730
6 KRT14 NM_000526.4(KRT14): c.357G> A (p.Met119Ile) single nucleotide variant Pathogenic rs57358989 GRCh38 Chromosome 17, 41586478: 41586478
7 KRT5 NM_000424.3(KRT5): c.980T> C (p.Met327Thr) single nucleotide variant Pathogenic rs58072617 GRCh37 Chromosome 12, 52911486: 52911486
8 KRT5 NM_000424.3(KRT5): c.980T> C (p.Met327Thr) single nucleotide variant Pathogenic rs58072617 GRCh38 Chromosome 12, 52517702: 52517702
9 KRT5 NM_000424.3(KRT5): c.508G> A (p.Glu170Lys) single nucleotide variant Pathogenic rs59115483 GRCh37 Chromosome 12, 52913573: 52913573
10 KRT5 NM_000424.3(KRT5): c.508G> A (p.Glu170Lys) single nucleotide variant Pathogenic rs59115483 GRCh38 Chromosome 12, 52519789: 52519789
11 KRT5 NM_000424.3(KRT5): c.1252G> A (p.Glu418Lys) single nucleotide variant Pathogenic rs121912476 GRCh37 Chromosome 12, 52910608: 52910608
12 KRT5 NM_000424.3(KRT5): c.1252G> A (p.Glu418Lys) single nucleotide variant Pathogenic rs121912476 GRCh38 Chromosome 12, 52516824: 52516824
13 KRT14 NM_000526.4(KRT14): c.313_314delGC (p.Ala105Trpfs) deletion Pathogenic rs57278315 GRCh37 Chromosome 17, 39742773: 39742774
14 KRT14 NM_000526.4(KRT14): c.313_314delGC (p.Ala105Trpfs) deletion Pathogenic rs57278315 GRCh38 Chromosome 17, 41586521: 41586522
15 KRT14 NM_000526.4(KRT14): c.526-2A> C single nucleotide variant Pathogenic rs200779504 GRCh37 Chromosome 17, 39741311: 39741311
16 KRT14 NM_000526.4(KRT14): c.526-2A> C single nucleotide variant Pathogenic rs200779504 GRCh38 Chromosome 17, 41585059: 41585059
17 KRT14 NM_000526.4(KRT14): c.88C> T (p.Arg30Cys) single nucleotide variant Uncertain significance rs201069984 GRCh37 Chromosome 17, 39742999: 39742999
18 KRT14 NM_000526.4(KRT14): c.88C> T (p.Arg30Cys) single nucleotide variant Uncertain significance rs201069984 GRCh38 Chromosome 17, 41586747: 41586747
19 KRT14 NM_000526.4(KRT14): c.92delT (p.Ile31Thrfs) deletion Pathogenic rs60231560 GRCh37 Chromosome 17, 39742995: 39742995
20 KRT14 NM_000526.4(KRT14): c.92delT (p.Ile31Thrfs) deletion Pathogenic rs60231560 GRCh38 Chromosome 17, 41586743: 41586743

Expression for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Autosomal Recessive 1.

Pathways for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Pathways related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 KRT14 KRT5
2
Show member pathways
10.99 KRT14 KRT5
3 10.54 KRT14 KRT5

GO Terms for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Cellular components related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT14 KRT5
2 keratin filament GO:0045095 8.62 KRT14 KRT5

Biological processes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 KRT14 KRT5
2 cornification GO:0070268 9.16 KRT14 KRT5
3 epidermis development GO:0008544 8.96 KRT14 KRT5
4 hemidesmosome assembly GO:0031581 8.62 KRT14 KRT5

Molecular functions related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 KRT14 KRT5

Sources for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

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75 UMLS via Orphanet
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