EBSMP
MCID: EPD023
MIFTS: 47

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 57 12 20 58 29 13 6 44 15 39 70
Speckled Hyperpigmentation with Punctate Palmoplantar Keratoses and Childhood Blistering 57 12 72
Ebs-Mp 20 58 54
Epidermolysis Bullosa Simplex-Mp 57 12
Ebs with Mottled Pigmentation 20 58
Ebsmp 57 12
Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses and Childhood Blistering 20
Epidermolysis Bullosa Simplex, with Mottled Pigmentation 72
Mp-Ebs 72

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex with mottled pigmentation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
epidermolysis bullosa simplex with mottled pigmentation:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111346
OMIM® 57 131960
SNOMED-CT 67 254180002
MESH via Orphanet 45 C535959
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 71 C0432316
Orphanet 58 ORPHA79397
MedGen 41 C0432316
UMLS 70 C0432316

Summaries for Epidermolysis Bullosa Simplex with Mottled Pigmentation

GARD : 20 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 speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering, is related to epidermolysis bullosa simplex, generalized 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 Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin and breast, and related phenotypes are abnormal blistering of the skin and reticulated skin pigmentation

Disease Ontology : 12 An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has material basis in heterozygous mutation in KRT5 on chromosome 12q13.13.

UniProtKB/Swiss-Prot : 72 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.

More information 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 100)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, generalized 32.3 PLEC KRT5 KRT14
2 epidermolysis bullosa 31.0 PLEC PKP1 KRT5 KRT14 KRT10 EXPH5
3 epidermolysis bullosa simplex, localized 30.9 PLEC KRT5 KRT14
4 palmoplantar keratosis 30.8 PKP1 KRT5 KRT10 DSP
5 alopecia 30.6 KRT86 KRT14 DSP
6 epidermolysis bullosa simplex 30.6 PLEC PKP1 KRT5 KRT4 KRT14 KRT10
7 familial woolly hair syndrome 30.4 PLEC PKP1 KRT86 DSP
8 keratosis 30.3 KRT86 KRT5 KRT14 KRT10 DSP ATP2A2
9 skin disease 30.2 PLEC KRT5 KRT14 KRT10 EXPH5 DSP
10 epidermolysis bullosa simplex, dowling-meara type 29.9 PLEC PKP1 KRT5 KRT4 KRT14 KRT10
11 dowling-degos disease 1 10.8
12 ceruminous adenocarcinoma 10.4 KRT5 KRT14
13 acanthoma 10.4 KRT5 KRT10
14 benign breast adenomyoepithelioma 10.4 KRT5 KRT14
15 breast adenomyoepithelioma 10.4 KRT5 KRT14
16 micronodular basal cell carcinoma 10.4 KRT5 KRT14
17 breast myoepithelial neoplasm 10.4 KRT5 KRT14
18 breast myoepithelial carcinoma 10.4 KRT5 KRT14
19 squamous cell bile duct carcinoma 10.4 KRT5 KRT14
20 breast metaplastic carcinoma 10.4 KRT5 KRT14
21 epidermolysis bullosa simplex, autosomal recessive 1 10.4 KRT5 KRT14
22 odontoma 10.4 KRT5 KRT14
23 gastric squamous cell carcinoma 10.4 KRT5 KRT10
24 darier-white disease 10.4
25 skin atrophy 10.4
26 erythrokeratoderma ''en cocardes'' 10.4
27 rare genetic skin disease 10.4
28 lipid-rich carcinoma 10.4 KRT5 KRT14
29 esophageal adenosquamous carcinoma 10.4 KRT5 KRT14
30 clear cell basal cell carcinoma 10.4 KRT5 KRT14
31 intracystic papillary adenoma 10.3 KRT5 KRT14
32 malignant biphasic mesothelioma 10.3 KRT5 KRT10
33 apocrine sweat gland neoplasm 10.3 KRT5 KRT14
34 eccrine acrospiroma 10.3 KRT5 KRT10
35 cloacogenic carcinoma 10.3 KRT5 KRT4
36 squamous cell papilloma 10.3 KRT14 ATP2A2
37 cystic basal cell carcinoma 10.3 KRT5 KRT14
38 acantholytic acanthoma 10.3 KRT5 ATP2A2
39 intraductal breast benign neoplasm 10.3 KRT5 KRT14
40 breast benign neoplasm 10.3 KRT5 KRT14
41 pinguecula 10.3 KRT14 KRT10
42 synchronous bilateral breast carcinoma 10.3 KRT5 KRT14
43 benign peritoneal mesothelioma 10.3 KRT5 KRT14
44 intraductal papilloma 10.3 KRT5 KRT14
45 sweat gland benign neoplasm 10.3 KRT5 KRT14
46 diffuse palmoplantar keratoderma 10.3 KRT5 DSP
47 nystagmus 4, congenital, autosomal dominant 10.3 KRT14 KRT10
48 reticulate acropigmentation of kitamura 10.3 KRT5 KRT4
49 pancreatoblastoma 10.3 KRT14 KRT10
50 large cell acanthoma 10.3 KRT5 KRT14 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

Human phenotypes related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
2 reticulated skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007427
3 hypopigmented skin patches 31 hallmark (90%) HP:0001053
4 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
5 palmoplantar keratoderma 31 frequent (33%) HP:0000982
6 prematurely aged appearance 31 frequent (33%) HP:0007495
7 bruising susceptibility 31 frequent (33%) HP:0000978
8 dermal atrophy 31 frequent (33%) HP:0004334
9 milia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001056
10 nail dysplasia 58 31 Frequent (79-30%) HP:0002164
11 abnormality of the dentition 58 Occasional (29-5%)
12 alopecia 58 Occasional (29-5%)
13 cutaneous photosensitivity 58 Occasional (29-5%)
14 hypermelanotic macule 58 Frequent (79-30%)
15 onychogryposis 31 HP:0001805
16 plantar hyperkeratosis 58 Frequent (79-30%)
17 mottled pigmentation 58 Very frequent (99-80%)
18 oral mucosal blisters 58 Occasional (29-5%)
19 spotty hypopigmentation 58 Frequent (79-30%)
20 junctional split 58 Very frequent (99-80%)
21 skin fragility with non-scarring blistering 58 Very frequent (99-80%)
22 mixed hypo- and hyperpigmentation of the skin 58 Very frequent (99-80%)
23 hypomelanotic macule 58 Frequent (79-30%)
24 palmar hyperkeratosis 58 Frequent (79-30%)
25 hyperkeratotic papule 58 Frequent (79-30%)
26 punctate palmoplantar hyperkeratosis 31 HP:0007530
27 mottled pigmentation of the trunk and proximal extremities 31 HP:0007438
28 discrete 2 to 5-mm hyper- and hypopigmented macules 31 HP:0007494

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
discrete 2 to 5-mm hyper- and hypopigmented macules
epidermolysis bullosa simplex
blistering at acral sites
'mottled' pigmentation of the trunk and proximal extremities
punctate palmoplantar hyperkeratosis (later onset)
more
Skin Nails Hair Nails:
dystrophic nails
thickened nails

Clinical features from OMIM®:

131960 (Updated 20-May-2021)

UMLS symptoms related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:


pachyonychia

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 ATP2A2 DSP FERMT1 KRT14 KRT4 KRT5

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Mottled Pigmentation

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

Cochrane evidence based reviews: 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:

40
Skin, Breast

Publications for Epidermolysis Bullosa Simplex with Mottled Pigmentation

Articles related to Epidermolysis Bullosa Simplex with Mottled Pigmentation:

(show top 50) (show all 59)
# Title Authors PMID Year
1
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 54 57 6 61
8799157 1996
2
Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree. 6 57 61
20923750 2010
3
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. 57 6 61
11167681 2001
4
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. 6 57 61
9129237 1997
5
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. 6 54 61
10494094 1999
6
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. 6
28561874 2017
7
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic. 6
26707537 2016
8
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. 6
26743602 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
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. 6
20030639 2010
13
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. 6
20151404 2010
14
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 6
20108434 2010
15
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex. 57
19267394 2009
16
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
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
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. 6
11973334 2002
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
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 6
9036937 1997
26
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. 6
8601736 1996
27
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
28
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
29
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 6
1717157 1991
30
Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. 6
2476664 1989
31
Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering: a clinical triad, with variable associations. A report of two families. 57
6457621 1981
32
Hereditary diffuse hyperpigmentation. 57
7438517 1980
33
Epidermolysis bullosa simplex and mottled pigmentation: a new dominant syndrome. I. Clinical and histological features. 57
421361 1979
34
Epidermolysis bullosa with pigmentation and palmar and plantar keratoses. 57
141936 1977
35
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. 57
939040 1976
36
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. 61 54
16581562 2006
37
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. 54 61
15982306 2005
38
Sporadic form of epidermolysis bullosa simplex with mottled pigmentation. 61
32518011 2020
39
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5. 61
30690752 2019
40
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. 61
27384765 2016
41
Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members. 61
26286811 2016
42
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. 61
25191045 2014
43
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. 61
24964947 2014
44
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review. 61
22640275 2013
45
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. 61
23889190 2013
46
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. 61
23103015 2013
47
Epidermolysis bullosa simplex with mottled pigmentation. 61
22301046 2012
48
[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation]. 61
22161089 2011
49
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation. 61
21818518 2011
50
Epidermolysis bullosa simplex with mottled pigmentation: a case report. 61
19570085 2009

Variations for Epidermolysis Bullosa Simplex with Mottled Pigmentation

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

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) SNV Pathogenic 14648 rs57499817 GRCh37: 12:52914007-52914007
GRCh38: 12:52520223-52520223
2 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic 21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
3 KRT5 NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) SNV Pathogenic 14648 rs57499817 GRCh37: 12:52914007-52914007
GRCh38: 12:52520223-52520223
4 KRT5 NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) SNV Pathogenic 66246 rs267607456 GRCh37: 12:52913586-52913586
GRCh38: 12:52519802-52519802
5 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic 14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
6 KRT5 NM_000424.4(KRT5):c.556-16C>G SNV Pathogenic 1047955 GRCh37: 12:52912960-52912960
GRCh38: 12:52519176-52519176
7 KRT5 NM_000424.4(KRT5):c.556G>A (p.Val186Met) SNV Pathogenic 66267 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
8 KRT5 NM_000424.4(KRT5):c.556G>T (p.Val186Leu) SNV Pathogenic 14652 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
9 KRT5 NM_000424.4(KRT5):c.557T>A (p.Val186Glu) SNV Pathogenic 66268 rs267607457 GRCh37: 12:52912943-52912943
GRCh38: 12:52519159-52519159
10 KRT5 NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) SNV Pathogenic 1047987 GRCh37: 12:52912929-52912929
GRCh38: 12:52519145-52519145
11 KRT5 NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) SNV Pathogenic 14644 rs60586163 GRCh37: 12:52912921-52912921
GRCh38: 12:52519137-52519137
12 KRT5 NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) SNV Pathogenic 1047988 GRCh37: 12:52912913-52912913
GRCh38: 12:52519129-52519129
13 KRT5 NM_000424.4(KRT5):c.771delG Deletion Pathogenic 1047989 GRCh37: 12:52911947-52911947
GRCh38: 12:52518163-52518163
14 KRT5 NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) SNV Pathogenic 1047990 GRCh37: 12:52911505-52911505
GRCh38: 12:52517721-52517721
15 KRT5 NM_000424.4(KRT5):c.983A>T (p.Asp328Val) SNV Pathogenic 66293 rs57142010 GRCh37: 12:52911483-52911483
GRCh38: 12:52517699-52517699
16 KRT5 NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) SNV Pathogenic 66202 rs267607458 GRCh37: 12:52910578-52910578
GRCh38: 12:52516794-52516794
17 KRT5 NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) SNV Pathogenic 66203 rs59243757 GRCh37: 12:52910577-52910577
GRCh38: 12:52516793-52516793
18 KRT5 NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) SNV Pathogenic 14639 rs57599352 GRCh37: 12:52910472-52910472
GRCh38: 12:52516688-52516688
19 KRT5 NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) SNV Pathogenic 1047991 GRCh37: 12:52910464-52910464
GRCh38: 12:52516680-52516680
20 KRT5 NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) SNV Pathogenic 66208 rs62642056 GRCh37: 12:52910462-52910462
GRCh38: 12:52516678-52516678
21 KRT5 NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) SNV Pathogenic 1047992 GRCh37: 12:52910454-52910454
GRCh38: 12:52516670-52516670
22 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic 21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
23 KRT5 NM_000424.4(KRT5):c.1649del (p.Gly550fs) Deletion Pathogenic 14655 rs61126080 GRCh37: 12:52908850-52908850
GRCh38: 12:52515066-52515066
24 KRT14 NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) SNV Pathogenic 66339 rs60338701 GRCh37: 17:39742741-39742741
GRCh38: 17:41586489-41586489
25 KRT14 NM_000526.5(KRT14):c.397G>T (p.Val133Leu) SNV Pathogenic 66358 rs61027685 GRCh37: 17:39742690-39742690
GRCh38: 17:41586438-41586438
26 KRT14 NM_000526.5(KRT14):c.749del (p.Lys250fs) Deletion Pathogenic 66375 rs267607406 GRCh37: 17:39740525-39740525
GRCh38: 17:41584273-41584273
27 KRT14 NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) SNV Pathogenic 1048024 GRCh37: 17:39739617-39739617
GRCh38: 17:41583365-41583365
28 KRT14 NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) SNV Pathogenic 1048025 GRCh37: 17:39739556-39739556
GRCh38: 17:41583304-41583304
29 KRT14 NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) SNV Pathogenic 1048026 GRCh37: 17:39739538-39739538
GRCh38: 17:41583286-41583286
30 KRT14 NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) Deletion Pathogenic 66316 rs267607389 GRCh37: 17:39739528-39739530
GRCh38: 17:41583276-41583278
31 KRT14 NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) SNV Pathogenic 66322 rs59442925 GRCh37: 17:39739517-39739517
GRCh38: 17:41583265-41583265
32 KRT14 NM_000526.5(KRT14):c.1274+5G>C SNV Pathogenic 1048027 GRCh37: 17:39739482-39739482
GRCh38: 17:41583230-41583230
33 PLEC NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) SNV Pathogenic 1048028 GRCh37: 8:145001240-145001240
GRCh38: 8:143927072-143927072
34 PLEC NM_201384.3(PLEC):c.5663del (p.Lys1888fs) Deletion Pathogenic 1048029 GRCh37: 8:144998434-144998434
GRCh38: 8:143924266-143924266
35 PLEC NM_201384.3(PLEC):c.9294del (p.Glu3099fs) Deletion Pathogenic 1048030 GRCh37: 8:144994695-144994695
GRCh38: 8:143920527-143920527
36 KRT14 NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) SNV Pathogenic 66353 rs60470268 GRCh37: 17:39742702-39742702
GRCh38: 17:41586450-41586450
37 KRT14 NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) SNV Pathogenic 14612 rs60399023 GRCh37: 17:39742714-39742714
GRCh38: 17:41586462-41586462
38 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
39 KRT5 NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) Deletion Likely pathogenic 623145 rs1565593355 GRCh37: 12:52911901-52911901
GRCh38: 12:52518117-52518117
40 KRT5 NM_000424.4(KRT5):c.1118G>C (p.Gly373Ala) SNV Uncertain significance 309562 rs561738497 GRCh37: 12:52910991-52910991
GRCh38: 12:52517207-52517207
41 KRT5 NM_000424.4(KRT5):c.*334A>G SNV Uncertain significance 880775 GRCh37: 12:52908392-52908392
GRCh38: 12:52514608-52514608
42 KRT5 NM_000424.4(KRT5):c.78T>G (p.Ser26=) SNV Uncertain significance 880894 GRCh37: 12:52914003-52914003
GRCh38: 12:52520219-52520219
43 KRT5 NM_000424.4(KRT5):c.72C>A (p.Thr24=) SNV Uncertain significance 880895 GRCh37: 12:52914009-52914009
GRCh38: 12:52520225-52520225
44 KRT5 NM_000424.4(KRT5):c.1575C>T (p.Ala525=) SNV Uncertain significance 309556 rs202104381 GRCh37: 12:52908924-52908924
GRCh38: 12:52515140-52515140
45 KRT5 NM_000424.4(KRT5):c.*134A>G SNV Uncertain significance 309552 rs568942940 GRCh37: 12:52908592-52908592
GRCh38: 12:52514808-52514808
46 KRT5 NM_000424.4(KRT5):c.-7A>C SNV Uncertain significance 880896 GRCh37: 12:52914087-52914087
GRCh38: 12:52520303-52520303
47 KRT5 NM_000424.4(KRT5):c.*271C>T SNV Uncertain significance 882167 GRCh37: 12:52908455-52908455
GRCh38: 12:52514671-52514671
48 KRT5 NM_000424.4(KRT5):c.*232T>C SNV Uncertain significance 882168 GRCh37: 12:52908494-52908494
GRCh38: 12:52514710-52514710
49 KRT5 NM_000424.4(KRT5):c.556-4C>A SNV Uncertain significance 882223 GRCh37: 12:52912948-52912948
GRCh38: 12:52519164-52519164
50 KRT5 NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln) SNV Uncertain significance 882418 GRCh37: 12:52908823-52908823
GRCh38: 12:52515039-52515039

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

72
# Symbol AA change Variation ID SNP ID
1 KRT5 p.Pro25Leu VAR_010453 rs57499817

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
13.01 PKP1 KRT86 KRT5 KRT4 KRT14 KRT10
2 12.04 PLEC KRT5 KRT4 KRT10 FERMT1
3
Show member pathways
11.95 PKP1 KRT86 KRT5 KRT4 KRT14 KRT10
4 11.63 PLEC FERMT1 DSP
5
Show member pathways
11.56 PLEC PKP1 DSP
6
Show member pathways
11.13 PLEC PKP1 KRT5 KRT4 KRT14 DSP
7 10.77 POMT2 POMT1

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 cornified envelope GO:0001533 9.33 PKP1 KRT10 DSP
2 desmosome GO:0030057 9.26 PKP1 DSP
3 keratin filament GO:0045095 9.26 KRT86 KRT5 KRT4 KRT14
4 intermediate filament GO:0005882 9.23 PLEC PKP1 KRT86 KRT5 KRT4 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.56 KRT5 KRT14 DSP ATP2A2
2 keratinization GO:0031424 9.5 PKP1 KRT86 KRT5 KRT4 KRT14 KRT10
3 peptide cross-linking GO:0018149 9.48 KRT10 DSP
4 intermediate filament cytoskeleton organization GO:0045104 9.46 PLEC DSP
5 protein O-linked mannosylation GO:0035269 9.43 POMT2 POMT1
6 mannosylation GO:0097502 9.4 POMT2 POMT1
7 intermediate filament bundle assembly GO:0045110 9.37 PKP1 KRT14
8 hemidesmosome assembly GO:0031581 9.33 PLEC KRT5 KRT14
9 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1
10 cornification GO:0070268 9.17 PKP1 KRT86 KRT5 KRT4 KRT14 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 9.32 POMT2 POMT1
2 structural constituent of epidermis GO:0030280 9.26 PKP1 KRT10
3 structural molecule activity GO:0005198 9.26 PLEC KRT14 KRT10 DSP
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1
5 structural constituent of cytoskeleton GO:0005200 8.92 PLEC KRT5 KRT14 DSP

Sources for Epidermolysis Bullosa Simplex with Mottled Pigmentation

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
Content
Loading form....