EBSMP
MCID: EPD023
MIFTS: 39

Epidermolysis Bullosa Simplex with Mottled Pigmentation (EBSMP)

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 58 54 60 30 13 6 41 74
Ebs-Mp 54 60 56
Speckled Hyperpigmentation with Punctate Palmoplantar Keratoses and Childhood Blistering 58 76
Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses and Childhood Blistering 54
Epidermolysis Bullosa Simplex, with Mottled Pigmentation 76
Epidermolysis Bullosa Simplex-Mp 58
Ebs with Mottled Pigmentation 54
Mp-Ebs 76
Ebsmp 58

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex with mottled pigmentation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
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:

33
epidermolysis bullosa simplex with mottled pigmentation:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 131960
MeSH 45 D016110
MESH via Orphanet 46 C535959
ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C0432316
Orphanet 60 ORPHA79397
MedGen 43 C0432316
UMLS 74 C0432316

Summaries for Epidermolysis Bullosa Simplex with Mottled Pigmentation

NIH Rare Diseases : 54 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, generalized and epidermolysis bullosa simplex, 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 abnormal blistering of the skin and hypopigmented skin patches

UniProtKB/Swiss-Prot : 76 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 52)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, generalized 32.2 KRT14 KRT5
2 epidermolysis bullosa simplex 31.4 KRT10 KRT14 KRT5
3 epidermolysis bullosa 31.1 EXPH5 KRT14 KRT5
4 alopecia 10.4
5 woolly hair syndrome 10.4
6 benign breast adenomyoepithelioma 10.1 KRT14 KRT5
7 breast adenomyoepithelioma 10.1 KRT14 KRT5
8 lichen planopilaris 10.1 KRT14 KRT5
9 epidermolysis bullosa simplex, autosomal recessive 1 10.1 KRT14 KRT5
10 apocrine sweat gland neoplasm 10.1 KRT14 KRT5
11 epidermolysis bullosa simplex, localized 10.1 KRT14 KRT5
12 malignant biphasic mesothelioma 10.1 KRT10 KRT5
13 cervical clear cell adenocarcinoma 10.1 KRT14 KRT5
14 odontoma 10.1 KRT14 KRT5
15 gastric squamous cell carcinoma 10.1 KRT10 KRT5
16 breast myoepithelial neoplasm 10.1 KRT14 KRT5
17 breast benign neoplasm 10.1 KRT14 KRT5
18 thoracic benign neoplasm 10.1 KRT14 KRT5
19 eccrine sweat gland neoplasm 10.1 KRT10 KRT5
20 lipoadenoma 10.1 KRT14 KRT5
21 lipid-rich carcinoma 10.1 KRT14 KRT5
22 basal cell carcinoma, infundibulocystic 10.1 KRT10 KRT14
23 pregnancy adenoma 10.1 KRT14 KRT5
24 sweat gland disease 10.1 KRT14 KRT5
25 striate palmoplantar keratoderma 10.1 KRT10 KRT14
26 tonsil cancer 10.1 KRT14 KRT5
27 pre-malignant neoplasm 10.1 KRT14 KRT5
28 keratosis, seborrheic 10.0 KRT10 KRT5
29 hidradenitis suppurativa 10.0 KRT10 KRT14
30 hidradenitis 10.0 KRT10 KRT14
31 oropharynx cancer 10.0 KRT14 KRT5
32 pinguecula 10.0 KRT10 KRT14
33 in situ carcinoma 10.0 KRT14 KRT5
34 white sponge nevus 1 10.0 KRT10 KRT14
35 spindle cell carcinoma 10.0 KRT14 KRT5
36 palmoplantar keratoderma, epidermolytic 10.0 KRT10 KRT14
37 skin benign neoplasm 10.0 KRT14 KRT5
38 keratosis 9.9 ATP2A2 KRT10
39 sweat gland cancer 9.9 KRT14 KRT5
40 ductal carcinoma in situ 9.9 KRT14 KRT5
41 nevus, epidermal 9.9 ATP2A2 KRT10
42 large cell acanthoma 9.8 KRT10 KRT14 KRT5
43 breast squamous cell carcinoma 9.8 KRT10 KRT14 KRT5
44 epidermolysis bullosa simplex, dowling-meara type 9.8 KRT10 KRT14 KRT5
45 intraneural perineurioma 9.8 KRT10 KRT14 KRT5
46 primary cutaneous amyloidosis 9.8 KRT10 KRT14 KRT5
47 papilloma 9.8 KRT10 KRT14 KRT5
48 epidermolytic hyperkeratosis 9.8 KRT10 KRT5
49 dowling-degos disease 9.8 ATP2A2 KRT14 KRT5
50 ichthyosis 9.7 KRT10 KRT5

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

Human phenotypes related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

60 33 (show all 14)
# 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 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
3 reticulated skin pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007427
4 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
5 nail dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008404
6 prematurely aged appearance 60 33 frequent (33%) Frequent (79-30%) HP:0007495
7 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
8 dermal atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0004334
9 milia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001056
10 nail dysplasia 33 HP:0002164
11 discrete 2 to 5-mm hyper- and hypopigmented macules 33 HP:0007494
12 onychogryposis 33 HP:0001805
13 mottled pigmentation of the trunk and proximal extremities 33 HP:0007438
14 punctate palmoplantar hyperkeratosis 33 HP:0007530

Symptoms via clinical synopsis from OMIM:

58
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

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 30 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex with Mottled Pigmentation

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

42
Skin, Breast, Tonsil

Publications for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Articles related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

(show all 28)
# Title Authors Year
1
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5. ( 30690752 )
2019
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 )
2016
3
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. ( 27384765 )
2016
4
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
5
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. ( 24964947 )
2014
6
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review. ( 22640275 )
2013
7
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. ( 23103015 )
2013
8
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. ( 23889190 )
2013
9
Epidermolysis bullosa simplex with mottled pigmentation. ( 22301046 )
2012
10
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation. ( 21818518 )
2011
11
[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation]. ( 22161089 )
2011
12
Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree. ( 20923750 )
2010
13
Epidermolysis bullosa simplex with mottled pigmentation: a case report. ( 19570085 )
2009
14
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
15
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
16
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. ( 16601668 )
2006
17
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. ( 17229601 )
2006
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
Keratotic lesions in epidermolysis bullosa simplex with mottled pigmentation. ( 15627110 )
2005
20
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. ( 15030360 )
2004
21
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. ( 11167681 )
2001
22
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. ( 10494094 )
1999
23
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. ( 9129237 )
1997
24
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. ( 8799157 )
1996
25
Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature. ( 8075449 )
1994
26
Epidermolysis bullosa simplex with mottled pigmentation. ( 8338752 )
1993
27
Epidermolysis bullosa simplex with mottled pigmentation. ( 2474016 )
1989
28
Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. ( 2476664 )
1989

Variations for Epidermolysis Bullosa Simplex with Mottled Pigmentation

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

76
# 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.980T> C (p.Met327Thr) single nucleotide variant Pathogenic rs58072617 GRCh37 Chromosome 12, 52911486: 52911486
2 KRT5 NM_000424.3(KRT5): c.980T> C (p.Met327Thr) single nucleotide variant Pathogenic rs58072617 GRCh38 Chromosome 12, 52517702: 52517702
3 KRT5 NM_000424.3(KRT5): c.74C> T (p.Pro25Leu) single nucleotide variant Pathogenic rs57499817 GRCh37 Chromosome 12, 52914007: 52914007
4 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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