MP-EBS
MCID: EPD023
MIFTS: 41

Epidermolysis Bullosa Simplex with Mottled Pigmentation (MP-EBS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Mottled Pigmentation

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Mottled Pigmentation:

Name: Epidermolysis Bullosa Simplex with Mottled Pigmentation 57 53 59 29 13 6 40 73
Ebs-Mp 53 59 55
Speckled Hyperpigmentation with Punctate Palmoplantar Keratoses and Childhood Blistering 57 75
Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses and Childhood Blistering 53
Epidermolysis Bullosa Simplex, with Mottled Pigmentation 75
Epidermolysis Bullosa Simplex-Mp 57
Ebs with Mottled Pigmentation 53
Mp-Ebs 75
Ebsmp 57

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex with mottled pigmentation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood of blistering and pigmentary changes
may have seasonal variance in severity
allelic disorder to ebs dowling-meara , ebs koebner , and ebs weber-cockayne
disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene


HPO:

32
epidermolysis bullosa simplex with mottled pigmentation:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 131960
Orphanet 59 ORPHA79397
UMLS via Orphanet 74 C0432316
MESH via Orphanet 45 C535959
ICD10 via Orphanet 34 Q81.0
MedGen 42 C0432316
MeSH 44 D016110
UMLS 73 C0432316

Summaries for Epidermolysis Bullosa Simplex with Mottled Pigmentation

NIH Rare Diseases : 53 Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. In EB simplex with mottled pigmentation, blistering may begin at birth. People with this condition have a mottled appearance of their skin (ie., darker and lighter colored spots of skin). Their skin may seem to age more quickly and bruise easily. EB simplex with mottled pigmentation is caused by a mutation in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.

MalaCards based summary : Epidermolysis Bullosa Simplex with Mottled Pigmentation, also known as ebs-mp, is related to epidermolysis bullosa simplex and epidermolysis bullosa, and has symptoms including pachyonychia An important gene associated with Epidermolysis Bullosa Simplex with Mottled Pigmentation is KRT5 (Keratin 5), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, breast and tonsil, and related phenotypes are palmoplantar keratoderma and nail dystrophy

UniProtKB/Swiss-Prot : 75 Epidermolysis bullosa simplex, with mottled pigmentation: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules.

Description from OMIM: 131960

Related Diseases for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Diseases related to Epidermolysis Bullosa Simplex with Mottled Pigmentation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex 31.4 KRT5 KRT14 KRT10
2 epidermolysis bullosa 31.3 KRT5 KRT14 EXPH5
3 alopecia 10.4
4 woolly hair syndrome 10.4
5 benign breast adenomyoepithelioma 10.1 KRT5 KRT14
6 breast adenomyoepithelioma 10.1 KRT5 KRT14
7 lichen planopilaris 10.1 KRT5 KRT14
8 epidermolysis bullosa simplex, autosomal recessive 1 10.1 KRT5 KRT14
9 apocrine sweat gland neoplasm 10.1 KRT5 KRT14
10 epidermolysis bullosa simplex, localized 10.1 KRT5 KRT14
11 epidermolysis bullosa simplex, generalized 10.1 KRT5 KRT14
12 malignant biphasic mesothelioma 10.1 KRT5 KRT10
13 odontoma 10.1 KRT5 KRT14
14 cervical clear cell adenocarcinoma 10.1 KRT5 KRT14
15 gastric squamous cell carcinoma 10.1 KRT5 KRT10
16 breast myoepithelial neoplasm 10.1 KRT5 KRT14
17 lipoadenoma 10.1 KRT5 KRT14
18 eccrine sweat gland neoplasm 10.1 KRT5 KRT10
19 thoracic benign neoplasm 10.1 KRT5 KRT14
20 breast benign neoplasm 10.1 KRT5 KRT14
21 pregnancy adenoma 10.1 KRT5 KRT14
22 basal cell carcinoma, infundibulocystic 10.1 KRT14 KRT10
23 lipid-rich carcinoma 10.1 KRT5 KRT14
24 sweat gland disease 10.1 KRT5 KRT14
25 striate palmoplantar keratoderma 10.1 KRT14 KRT10
26 tonsil cancer 10.0 KRT5 KRT14
27 pre-malignant neoplasm 10.0 KRT5 KRT14
28 oropharynx cancer 10.0 KRT5 KRT14
29 hidradenitis 10.0 KRT14 KRT10
30 keratosis, seborrheic 10.0 KRT5 KRT10
31 hidradenitis suppurativa 10.0 KRT14 KRT10
32 pinguecula 10.0 KRT14 KRT10
33 in situ carcinoma 10.0 KRT5 KRT14
34 white sponge nevus 1 10.0 KRT14 KRT10
35 spindle cell carcinoma 10.0 KRT5 KRT14
36 skin benign neoplasm 10.0 KRT5 KRT14
37 palmoplantar keratoderma, epidermolytic 10.0 KRT14 KRT10
38 sweat gland cancer 10.0 KRT5 KRT14
39 keratosis 10.0 KRT10 ATP2A2
40 ductal carcinoma in situ 9.9 KRT5 KRT14
41 epidermodysplasia verruciformis 9.9 KRT14 KRT10
42 nevus, epidermal 9.9 ATP2A2 KRT10
43 large cell acanthoma 9.9 KRT5 KRT14 KRT10
44 breast squamous cell carcinoma 9.9 KRT5 KRT14 KRT10
45 epidermolysis bullosa simplex, dowling-meara type 9.9 KRT5 KRT14 KRT10
46 intraneural perineurioma 9.9 KRT5 KRT14 KRT10
47 primary cutaneous amyloidosis 9.9 KRT5 KRT14 KRT10
48 papilloma 9.9 KRT5 KRT14 KRT10
49 basal cell carcinoma 9.9 KRT5 KRT14 KRT10
50 epidermolytic hyperkeratosis 9.9 KRT5 KRT10

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:



Diseases related to Epidermolysis Bullosa Simplex with Mottled Pigmentation

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
dystrophic nails
thickened nails

Skin Nails Hair Skin:
epidermolysis bullosa simplex
blistering at acral sites
'mottled' pigmentation of the trunk and proximal extremities
discrete 2 to 5-mm hyper- and hypopigmented macules
punctate palmoplantar hyperkeratosis (later onset)
more

Clinical features from OMIM:

131960

Human phenotypes related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
2 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
3 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
4 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
5 prematurely aged appearance 59 32 frequent (33%) Frequent (79-30%) HP:0007495
6 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
7 dermal atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0004334
8 milia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001056
9 reticulated skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007427
10 nail dysplasia 32 HP:0002164
11 thick nail 32 HP:0001805
12 discrete 2 to 5-mm hyper- and hypopigmented macules 32 HP:0007494
13 mottled pigmentation of the trunk and proximal extremities 32 HP:0007438
14 punctate palmoplantar hyperkeratosis 32 HP:0007530

UMLS symptoms related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:


pachyonychia

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Genetic Tests for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Genetic tests related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Mottled Pigmentation 29 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex with Mottled Pigmentation

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

41
Skin, Breast, Tonsil

Publications for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Articles related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

(show all 26)
# Title Authors Year
1
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. ( 27384765 )
2016
2
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
3
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
4
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. ( 24964947 )
2014
5
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. ( 23103015 )
2013
6
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. ( 23889190 )
2013
7
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review. ( 22640275 )
2013
8
Epidermolysis bullosa simplex with mottled pigmentation. ( 22301046 )
2012
9
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation. ( 21818518 )
2011
10
[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation]. ( 22161089 )
2011
11
Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree. ( 20923750 )
2010
12
Epidermolysis bullosa simplex with mottled pigmentation: a case report. ( 19570085 )
2009
13
Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. ( 17635506 )
2007
14
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. ( 16581562 )
2006
15
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. ( 17229601 )
2006
16
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. ( 16601668 )
2006
17
Keratotic lesions in epidermolysis bullosa simplex with mottled pigmentation. ( 15627110 )
2005
18
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. ( 15982306 )
2005
19
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. ( 15030360 )
2004
20
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. ( 11167681 )
2001
21
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. ( 10494094 )
1999
22
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. ( 9129237 )
1997
23
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. ( 8799157 )
1996
24
Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature. ( 8075449 )
1994
25
Epidermolysis bullosa simplex with mottled pigmentation. ( 8338752 )
1993
26
Epidermolysis bullosa simplex with mottled pigmentation. ( 2474016 )
1989

Variations for Epidermolysis Bullosa Simplex with Mottled Pigmentation

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex with Mottled Pigmentation:

75
# Symbol AA change Variation ID SNP ID
1 KRT5 p.Pro25Leu VAR_010453 rs57499817

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex with Mottled Pigmentation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT5 NM_000424.3(KRT5): c.74C> T (p.Pro25Leu) single nucleotide variant Pathogenic rs57499817 GRCh37 Chromosome 12, 52914007: 52914007
2 KRT5 NM_000424.3(KRT5): c.74C> T (p.Pro25Leu) single nucleotide variant Pathogenic rs57499817 GRCh38 Chromosome 12, 52520223: 52520223

Expression for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex with Mottled Pigmentation.

Pathways for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Pathways related to Epidermolysis Bullosa Simplex with Mottled Pigmentation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 KRT10 KRT14 KRT5
2
Show member pathways
11.19 KRT14 KRT5
3 10.87 KRT14 KRT5

GO Terms for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Cellular components related to Epidermolysis Bullosa Simplex with Mottled Pigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 8.96 KRT14 KRT5
2 intermediate filament GO:0005882 8.8 KRT10 KRT14 KRT5

Biological processes related to Epidermolysis Bullosa Simplex with Mottled Pigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT10 KRT14 KRT5
2 hemidesmosome assembly GO:0031581 9.16 KRT14 KRT5
3 cornification GO:0070268 9.13 KRT10 KRT14 KRT5
4 epidermis development GO:0008544 8.8 ATP2A2 KRT14 KRT5

Molecular functions related to Epidermolysis Bullosa Simplex with Mottled Pigmentation 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 with Mottled Pigmentation

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
Content
Loading form....