EBSB1
MCID: EPD080
MIFTS: 35

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 57 72 6 70
Ebsb1 57 72
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex 58
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 1 39
Epidermolysis Bullosa Simplex, Recessive 1 57
Autosomal Recessive Generalized Ebs 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive generalized epidermolysis bullosa simplex
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
epidermolysis bullosa simplex, autosomal recessive 1:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 601001
MeSH 44 D016110
ICD10 via Orphanet 33 Q81.0
Orphanet 58 ORPHA89838
SNOMED-CT via HPO 68 258211005 271768001 52897009
UMLS 70 C3715082

Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Epidermolysis Bullosa Simplex, Autosomal Recessive 1, also known as ebsb1, is related to ceruminous adenocarcinoma and benign 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 breast, skin and tonsil, and related phenotypes are ridged nail and oral mucosal blisters

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 ceruminous adenocarcinoma 9.9 KRT5 KRT14
2 benign breast adenomyoepithelioma 9.9 KRT5 KRT14
3 breast adenomyoepithelioma 9.9 KRT5 KRT14
4 micronodular basal cell carcinoma 9.9 KRT5 KRT14
5 basal cell carcinoma 9.9 KRT5 KRT14
6 breast myoepithelial neoplasm 9.9 KRT5 KRT14
7 breast myoepithelial carcinoma 9.9 KRT5 KRT14
8 squamous cell bile duct carcinoma 9.9 KRT5 KRT14
9 breast metaplastic carcinoma 9.9 KRT5 KRT14
10 large cell acanthoma 9.9 KRT5 KRT14
11 epidermolysis bullosa 9.9 KRT5 KRT14
12 epidermolysis bullosa simplex 9.9 KRT5 KRT14
13 odontoma 9.9 KRT5 KRT14
14 lipid-rich carcinoma 9.9 KRT5 KRT14
15 eccrine papillary adenocarcinoma 9.9 KRT5 KRT14
16 eccrine sweat gland neoplasm 9.9 KRT5 KRT14
17 esophageal adenosquamous carcinoma 9.9 KRT5 KRT14
18 clear cell basal cell carcinoma 9.9 KRT5 KRT14
19 intracystic papillary adenoma 9.9 KRT5 KRT14
20 apocrine sweat gland neoplasm 9.9 KRT5 KRT14
21 cystic basal cell carcinoma 9.9 KRT5 KRT14
22 intraductal breast benign neoplasm 9.9 KRT5 KRT14
23 breast benign neoplasm 9.9 KRT5 KRT14
24 synchronous bilateral breast carcinoma 9.9 KRT5 KRT14
25 benign peritoneal mesothelioma 9.9 KRT5 KRT14
26 eccrine papillary adenoma 9.9 KRT5 KRT14
27 hair follicle neoplasm 9.9 KRT5 KRT14
28 intraductal papilloma 9.9 KRT5 KRT14
29 papilloma 9.9 KRT5 KRT14
30 borst-jadassohn intraepidermal carcinoma 9.9 KRT5 KRT14
31 epidermolysis bullosa simplex, localized 9.8 KRT5 KRT14
32 sweat gland benign neoplasm 9.8 KRT5 KRT14
33 epidermolysis bullosa simplex, generalized 9.8 KRT5 KRT14
34 sebaceous adenocarcinoma 9.8 KRT5 KRT14
35 sweat gland disease 9.8 KRT5 KRT14
36 thoracic benign neoplasm 9.8 KRT5 KRT14
37 epidermolysis bullosa simplex with mottled pigmentation 9.8 KRT5 KRT14
38 epidermolysis bullosa simplex, dowling-meara type 9.8 KRT5 KRT14
39 tonsil cancer 9.8 KRT5 KRT14
40 epidermolysis bullosa dystrophica 9.8 KRT5 KRT14
41 dowling-degos disease 9.8 KRT5 KRT14
42 pachyonychia congenita 1 9.8 KRT5 KRT14
43 oropharynx cancer 9.8 KRT5 KRT14
44 primary cutaneous amyloidosis 9.8 KRT5 KRT14
45 skin benign neoplasm 9.8 KRT5 KRT14
46 pre-malignant neoplasm 9.8 KRT5 KRT14
47 in situ carcinoma 9.8 KRT5 KRT14
48 breast carcinoma in situ 9.8 KRT5 KRT14
49 craniopharyngioma 9.8 KRT5 KRT14
50 epidermolytic hyperkeratosis 9.8 KRT5 KRT14

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ridged nail 58 31 Occasional (29-5%) HP:0001807
2 oral mucosal blisters 58 31 Frequent (79-30%) HP:0200097
3 failure to thrive 58 Occasional (29-5%)
4 hyperkeratosis 58 Frequent (79-30%)
5 abnormal fingernail morphology 58 Frequent (79-30%)
6 nevus 58 Occasional (29-5%)
7 pruritus 58 Occasional (29-5%)
8 abnormal toenail morphology 58 Frequent (79-30%)
9 hypopigmentation of the skin 58 Occasional (29-5%)
10 dystrophic toenail 58 Occasional (29-5%)
11 abnormal blistering of the skin 58 Frequent (79-30%)
12 skin erosion 58 Frequent (79-30%)
13 milia 58 Occasional (29-5%)
14 onychogryposis 31 HP:0001805
15 palmoplantar hyperkeratosis 58 Frequent (79-30%)
16 absent toenail 58 Occasional (29-5%)
17 atrophic scars 58 Occasional (29-5%)
18 hyperpigmentation of the skin 58 Occasional (29-5%)
19 aplasia cutis congenita on trunk or limbs 58 Occasional (29-5%)
20 genital blistering 58 Occasional (29-5%)
21 palmoplantar blistering 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Breast, Skin, Tonsil

Publications for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

Articles related to Epidermolysis Bullosa Simplex, Autosomal Recessive 1:

(show all 11)
# Title Authors PMID Year
1
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
2
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote. 6 57
9284105 1997
3
A functional "knockout" of human keratin 14. 57 6
7525407 1994
4
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. 57 6
7525408 1994
5
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. 6 57
7526933 1993
6
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 57
18374450 2008
7
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. 6
10971341 2000
8
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. 6
8875963 1996
9
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. 6
7561171 1995
10
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 57
7534039 1995
11
Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety. 57
2539587 1989

Variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT14 NM_000526.5(KRT14):c.431A>C (p.Glu144Ala) SNV Pathogenic 14614 rs57121345 GRCh37: 17:39742656-39742656
GRCh38: 17:41586404-41586404
2 KRT14 NM_000526.5(KRT14):c.313_314del (p.Ala105fs) Deletion Pathogenic 66337 rs57278315 GRCh37: 17:39742773-39742774
GRCh38: 17:41586521-41586522
3 KRT5 NM_000424.4(KRT5):c.1252G>A (p.Glu418Lys) SNV Pathogenic 14658 rs121912476 GRCh37: 12:52910608-52910608
GRCh38: 12:52516824-52516824
4 KRT14 NM_000526.5(KRT14):c.92del (p.Ile31fs) Deletion Pathogenic 66385 rs60231560 GRCh37: 17:39742995-39742995
GRCh38: 17:41586743-41586743
5 KRT14 NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter) SNV Pathogenic 14616 rs60725382 GRCh37: 17:39740662-39740662
GRCh38: 17:41584410-41584410
6 KRT14 NM_000526.5(KRT14):c.526-2A>C SNV Pathogenic 66369 rs200779504 GRCh37: 17:39741311-39741311
GRCh38: 17:41585059-41585059
7 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic 14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
8 KRT14 NM_000526.5(KRT14):c.357G>A (p.Met119Ile) SNV Pathogenic 14620 rs57358989 GRCh37: 17:39742730-39742730
GRCh38: 17:41586478-41586478
9 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
10 KRT14 NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) SNV Uncertain significance 66381 rs201069984 GRCh37: 17:39742999-39742999
GRCh38: 17:41586747-41586747

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

72
# 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

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 KRT5 KRT14
2
Show member pathways
10.99 KRT5 KRT14
3 10.54 KRT5 KRT14

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 KRT5 KRT14
2 keratin filament GO:0045095 8.62 KRT5 KRT14

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 KRT5 KRT14
2 cornification GO:0070268 9.16 KRT5 KRT14
3 epidermis development GO:0008544 8.96 KRT5 KRT14
4 hemidesmosome assembly GO:0031581 8.62 KRT5 KRT14

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 KRT5 KRT14

Sources for Epidermolysis Bullosa Simplex, Autosomal Recessive 1

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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