EBS2F
MCID: EPD098
MIFTS: 49

Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation (EBS2F)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

MalaCards integrated aliases for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

Name: Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation 57 73
Epidermolysis Bullosa Simplex with Mottled Pigmentation 57 11 19 58 28 12 5 43 14 38 71
Speckled Hyperpigmentation with Punctate Palmoplantar Keratoses and Childhood Blistering 57 11 73
Ebs-Mp 19 58 53
Ebsmp 57 11 73
Ebs with Mottled Pigmentation 19 58
Ebs2f 57 73
Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses and Childhood Blistering 19
Epidermolysis Bullosa Simplex, with Mottled Pigmentation 73
Epidermolysis Bullosa Simplex-Mp 11

Characteristics:


Inheritance:

Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation: Autosomal dominant 57
Epidermolysis Bullosa Simplex with Mottled Pigmentation: Autosomal dominant 58

Age Of Onset:

Epidermolysis Bullosa Simplex with Mottled Pigmentation: Infancy,Neonatal 58

Age Of Death:

Epidermolysis Bullosa Simplex with Mottled Pigmentation: normal life expectancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in childhood of blistering and pigmentary changes
pigmentation abnormality appears as discrete 2 to 5-mm hyper- and hypopigmented macules not necessarily associated with blistering
may have seasonal variance in severity
improvement or resolution may occur in adulthood


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0111346
OMIM® 57 131960
OMIM Phenotypic Series 57 PS131760
SNOMED-CT 68 254180002
MESH via Orphanet 44 C535959
ICD10 via Orphanet 32 Q81.0
UMLS via Orphanet 72 C0432316
Orphanet 58 ORPHA79397
MedGen 40 C0432316
UMLS 71 C0432316

Summaries for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

GARD: 19 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 genetic change in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.

MalaCards based summary: Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation, also known as epidermolysis bullosa simplex with mottled pigmentation, is related to epidermolysis bullosa simplex generalized type and epidermolysis bullosa, and has symptoms including pachyonychia An important gene associated with Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation is KRT5 (Keratin 5), and among its related pathways/superpathways are Cytoskeletal Signaling and Keratinization. Affiliated tissues include skin, and related phenotypes are mottled pigmentation and reticulated skin pigmentation

UniProtKB/Swiss-Prot: 73 A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time.

OMIM®: 57 Epidermolysis bullosa simplex-2F with mottled pigmentation (EBS2F) is characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. Although a single pathologic mutation in the KRT5 gene (P25L; 148040.0009) typically causes this phenotype, EBS patients with mottled pigmentation with other mutations in KRT5 or in other genes have been reported (summary by Has et al., 2020). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). (131960) (Updated 24-Oct-2022)

Orphanet: 58 A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.

Disease Ontology: 11 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.

Related Diseases for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Diseases related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex generalized type 32.4 PLEC KRT5 KRT14
2 epidermolysis bullosa 31.0 PLEC PKP1 KRT5 KRT14 KRT1 EXPH5
3 epidermolysis bullosa simplex localized type 30.7 PLEC KRT5 KRT4 KRT14
4 epidermolysis bullosa simplex 30.6 PLEC PKP1 KRT5 KRT4 KRT14 KRT1
5 familial woolly hair syndrome 30.5 PLEC PKP1 KRT86 DSP
6 keratosis 30.4 KRT86 KRT5 KRT14 KRT1 ATP2A2
7 alopecia 30.4 SASH1 KRT86 KRT14 DSP
8 epidermolysis bullosa simplex 1a, generalized severe 30.3 PLEC PKP1 KRT5 KRT4 KRT14 EXPH5
9 palmoplantar keratosis 30.3 SASH1 PKP1 KRT5 KRT1 DSP
10 skin disease 30.1 PLEC KRT5 KRT14 KRT1 FERMT1 DSP
11 dowling-degos disease 1 10.8
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
13 epidermolysis bullosa simplex 2e, with migratory circinate erythema 10.5
14 darier-white disease 10.4
15 ceroid lipofuscinosis, neuronal, 5 10.4
16 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.4
17 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 10.4
18 skin atrophy 10.4
19 erythrokeratoderma ''en cocardes'' 10.4
20 rare genetic skin disease 10.4
21 epidermolysis bullosa simplex 1b, generalized intermediate 10.4 KRT5 KRT14
22 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive 10.3 KRT5 KRT14
23 proliferative type fibrocystic change of breast 10.3 KRT5 KRT14
24 nodular hidradenoma 10.3 KRT5 KRT14
25 benign breast adenomyoepithelioma 10.3 KRT5 KRT14
26 breast adenomyoepithelioma 10.3 KRT5 KRT14
27 ceruminous adenocarcinoma 10.3 KRT5 KRT14
28 breast myoepithelial neoplasm 10.3 KRT5 KRT14
29 sublingual gland adenoid cystic carcinoma 10.3 KRT5 KRT14
30 breast myoepithelial carcinoma 10.3 KRT5 KRT14
31 myoepithelial carcinoma 10.3 KRT5 KRT14
32 lipoadenoma 10.3 KRT5 KRT14
33 cloacogenic carcinoma 10.3 KRT5 KRT4
34 epidermolysis bullosa simplex 1c, localized 10.3 KRT5 KRT14
35 sublingual gland cancer 10.3 KRT5 KRT14
36 breast intraductal proliferative lesion 10.3 KRT5 KRT14
37 lipid-rich carcinoma 10.3 KRT5 KRT14
38 breast metaplastic carcinoma 10.3 KRT5 KRT14
39 odontoma 10.3 KRT5 KRT14
40 squamous cell bile duct carcinoma 10.3 KRT5 KRT14
41 comedo carcinoma 10.3 KRT5 KRT14
42 epithelial-myoepithelial carcinoma 10.3 KRT5 KRT14
43 apocrine adenocarcinoma 10.3 KRT5 KRT14
44 cystic basal cell carcinoma 10.3 KRT5 KRT14
45 apocrine sweat gland neoplasm 10.3 KRT5 KRT14
46 basaloid squamous cell carcinoma 10.3 KRT5 KRT14
47 large cell acanthoma 10.3 KRT5 KRT14
48 clear cell basal cell carcinoma 10.3 KRT5 KRT14
49 intraductal breast benign neoplasm 10.3 KRT5 KRT14
50 laryngeal small cell carcinoma 10.3 KRT5 KRT14

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:



Diseases related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Human phenotypes related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mottled pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001070
2 reticulated skin pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007427
3 skin fragility with non-scarring blistering 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007585
4 mixed hypo- and hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009123
5 lamina lucida cleavage 30 Hallmark (90%) HP:0003341
6 hypermelanotic macule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001034
7 nail dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002164
8 nail dystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008404
9 plantar hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0007556
10 hyperkeratotic papule 58 30 Frequent (33%) Frequent (79-30%)
HP:0045059
11 spotty hypopigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005590
12 hypomelanotic macule 58 30 Frequent (33%) Frequent (79-30%)
HP:0009719
13 palmar hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0010765
14 abnormality of the dentition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000164
15 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
16 cutaneous photosensitivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000992
17 milia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001056
18 oral mucosal blisters 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200097
19 hypoplastic fifth toenail 30 Very rare (1%) HP:0011937
20 intra-epidermal blistering 30 Very rare (1%) HP:0033802
21 abnormal blistering of the skin 58 Very frequent (99-80%)
22 onychogryposis 30 HP:0001805
23 junctional split 58 Very frequent (99-80%)
24 punctate palmoplantar hyperkeratosis 30 HP:0007530
25 mottled pigmentation of the trunk and proximal extremities 30 HP:0007438
26 discrete 2 to 5-mm hyper- and hypopigmented macules 30 HP:0007494

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Mouth:
oral mucosa blisters (occasional)

Skin Nails Hair Skin:
epidermolysis bullosa simplex
blistering primarily at acral sites
'mottled' pigmentation (trunk and proximal extremities)
depigmentation of skin (trunk and proximal extremities)
focal punctate palmoplantar hyperkeratosis (later onset)
more
Skin Nails Hair Skin Electron Microscopy:
cleavage in basal keratinocytes
clumped keratin filament disorganization
atypical clumped keratin filaments in basal cell layer (rare)
variable aggregation of keratin filaments in basal cell layer (rare)
increased melanosomes in keratinocytes in pigmented areas

Head And Neck Teeth:
dental caries (in some patients)

Skin Nails Hair Skin Histology:
degeneration of basal keratinocytes

Skin Nails Hair Nails:
dystrophic nails, mild (in some patients)
hyperconvexity of nails (in some patients)
onycholysis (rare)
distal thickening of nails (rare)

Clinical features from OMIM®:

131960 (Updated 24-Oct-2022)

UMLS symptoms related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:


pachyonychia

GenomeRNAi Phenotypes related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.09 ATP2A2 CLUL1 DSP EXPH5 FERMT1 KRT1
2 no effect GR00402-S-2 10.09 ATP2A2 CLUL1 EXPH5 FERMT1 KRT1 KRT14

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 ATP2A2 DSP FERMT1 KRT1 KRT14 KRT4
2 mortality/aging MP:0010768 9.73 ATP2A2 DSP FERMT1 KRT1 KRT14 KRT4
3 integument MP:0010771 9.32 ATP2A2 DSP FERMT1 KRT1 KRT14 KRT4

Drugs & Therapeutics for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Search Clinical Trials, NIH Clinical Center for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Cochrane evidence based reviews: epidermolysis bullosa simplex with mottled pigmentation

Genetic Tests for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Genetic tests related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Mottled Pigmentation 28 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Organs/tissues related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

MalaCards : Skin
ODiseA: Skin

Publications for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Articles related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. 53 62 57 5
15982306 2005
2
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 53 62 57 5
8799157 1996
3
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. 62 57 5
23889190 2013
4
Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree. 62 57 5
20923750 2010
5
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. 62 57 5
11167681 2001
6
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. 62 57 5
9129237 1997
7
Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering: a clinical triad, with variable associations. A report of two families. 62 57 5
6457621 1981
8
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex. 57 5
20055872 2009
9
Epidermolysis bullosa simplex and mottled pigmentation: a new dominant syndrome. I. Clinical and histological features. 57 5
421361 1979
10
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. 53 62 57
16581562 2006
11
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. 53 62 5
10494094 1999
12
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 62 5
20199538 2010
13
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. 57
32017015 2020
14
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. 5
28561874 2017
15
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. 5
27730678 2017
16
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic. 5
26707537 2016
17
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. 5
26743602 2016
18
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 5
23289980 2013
19
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 5
21623745 2011
20
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. 5
20030639 2010
21
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. 5
20151404 2010
22
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. 5
20108434 2010
23
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex. 57
19267394 2009
24
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. 5
18384561 2008
25
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. 5
17855059 2007
26
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. 5
17039244 2007
27
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 5
16882168 2006
28
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 5
16465624 2006
29
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. 5
15324323 2004
30
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. 5
12925204 2003
31
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. 5
11973334 2002
32
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 5
11851880 2002
33
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 5
11407988 2001
34
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 5
9036937 1997
35
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. 5
8601736 1996
36
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5. 5
8595431 1995
37
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 5
7686424 1993
38
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 5
1717157 1991
39
Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. 5
2476664 1989
40
Hereditary diffuse hyperpigmentation. 57
7438517 1980
41
Epidermolysis bullosa with pigmentation and palmar and plantar keratoses. 57
141936 1977
42
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. 57
939040 1976
43
Assessment of melanin distribution in epidermolysis bullosa simplex with mottled pigmentation: A case report. 62
34873742 2022
44
Sporadic form of epidermolysis bullosa simplex with mottled pigmentation. 62
32518011 2020
45
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5. 62
30690752 2019
46
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. 62
27384765 2016
47
Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members. 62
26286811 2016
48
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. 62
25191045 2014
49
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. 62
24964947 2014
50
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review. 62
22640275 2013

Variations for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

5 (show top 50) (show all 104)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT5 NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) SNV Pathogenic
66246 rs267607456 GRCh37: 12:52913586-52913586
GRCh38: 12:52519802-52519802
2 KRT5 NM_000424.4(KRT5):c.556-16C>G SNV Pathogenic
1047955 rs376462752 GRCh37: 12:52912960-52912960
GRCh38: 12:52519176-52519176
3 KRT5 NM_000424.4(KRT5):c.557T>A (p.Val186Glu) SNV Pathogenic
66268 rs267607457 GRCh37: 12:52912943-52912943
GRCh38: 12:52519159-52519159
4 KRT5 NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) SNV Pathogenic
1047987 rs1938667202 GRCh37: 12:52912929-52912929
GRCh38: 12:52519145-52519145
5 KRT5 NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) SNV Pathogenic
1047988 rs1938666838 GRCh37: 12:52912913-52912913
GRCh38: 12:52519129-52519129
6 KRT5 NM_000424.4(KRT5):c.771delG DEL Pathogenic
1047989 rs1938645889 GRCh37: 12:52911947-52911947
GRCh38: 12:52518163-52518163
7 KRT5 NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) SNV Pathogenic
1047990 rs1938635857 GRCh37: 12:52911505-52911505
GRCh38: 12:52517721-52517721
8 KRT5 NM_000424.4(KRT5):c.983A>T (p.Asp328Val) SNV Pathogenic
66293 rs57142010 GRCh37: 12:52911483-52911483
GRCh38: 12:52517699-52517699
9 KRT5 NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) SNV Pathogenic
66202 rs267607458 GRCh37: 12:52910578-52910578
GRCh38: 12:52516794-52516794
10 KRT5 NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) SNV Pathogenic
66203 rs59243757 GRCh37: 12:52910577-52910577
GRCh38: 12:52516793-52516793
11 KRT5 NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) SNV Pathogenic
1047991 rs1938615785 GRCh37: 12:52910464-52910464
GRCh38: 12:52516680-52516680
12 KRT5 NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) SNV Pathogenic
1047992 rs1264710617 GRCh37: 12:52910454-52910454
GRCh38: 12:52516670-52516670
13 KRT14 NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) SNV Pathogenic
66339 rs60338701 GRCh37: 17:39742741-39742741
GRCh38: 17:41586489-41586489
14 KRT14 NM_000526.5(KRT14):c.397G>T (p.Val133Leu) SNV Pathogenic
66358 rs61027685 GRCh37: 17:39742690-39742690
GRCh38: 17:41586438-41586438
15 KRT14 NM_000526.5(KRT14):c.749del (p.Lys250fs) DEL Pathogenic
66375 rs267607406 GRCh37: 17:39740525-39740525
GRCh38: 17:41584273-41584273
16 KRT14 NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) SNV Pathogenic
1048024 rs773920224 GRCh37: 17:39739617-39739617
GRCh38: 17:41583365-41583365
17 KRT14 NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) SNV Pathogenic
1048025 rs1907401835 GRCh37: 17:39739556-39739556
GRCh38: 17:41583304-41583304
18 KRT14 NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) SNV Pathogenic
1048026 rs1907400034 GRCh37: 17:39739538-39739538
GRCh38: 17:41583286-41583286
19 KRT14 NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) DEL Pathogenic
66316 rs267607389 GRCh37: 17:39739528-39739530
GRCh38: 17:41583276-41583278
20 KRT14 NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) SNV Pathogenic
66322 rs59442925 GRCh37: 17:39739517-39739517
GRCh38: 17:41583265-41583265
21 KRT14 NM_000526.5(KRT14):c.1274+5G>C SNV Pathogenic
1048027 rs1907395416 GRCh37: 17:39739482-39739482
GRCh38: 17:41583230-41583230
22 KRT14 NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) SNV Pathogenic
66353 rs60470268 GRCh37: 17:39742702-39742702
GRCh38: 17:41586450-41586450
23 KRT5 NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) SNV Pathogenic
66208 rs62642056 GRCh37: 12:52910462-52910462
GRCh38: 12:52516678-52516678
24 PLEC NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) SNV Pathogenic
1048028 rs782169513 GRCh37: 8:145001240-145001240
GRCh38: 8:143927072-143927072
25 PLEC NM_201384.3(PLEC):c.5663del (p.Lys1888fs) DEL Pathogenic
1048029 rs1824069966 GRCh37: 8:144998434-144998434
GRCh38: 8:143924266-143924266
26 PLEC NM_201384.3(PLEC):c.9294del (p.Glu3099fs) DEL Pathogenic
1048030 rs1822243280 GRCh37: 8:144994695-144994695
GRCh38: 8:143920527-143920527
27 KRT5 NM_000424.4(KRT5):c.556G>A (p.Val186Met) SNV Pathogenic
Pathogenic
66267 rs121912475 GRCh37: 12:52912944-52912944
GRCh38: 12:52519160-52519160
28 KRT5 NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) SNV Pathogenic
Pathogenic
14648 rs57499817 GRCh37: 12:52914007-52914007
GRCh38: 12:52520223-52520223
29 KRT14 NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) SNV Pathogenic
14612 rs60399023 GRCh37: 17:39742714-39742714
GRCh38: 17:41586462-41586462
30 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic
14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
31 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) SNV Pathogenic
Pathogenic
21174 rs59190510 GRCh37: 12:52910431-52910431
GRCh38: 12:52516647-52516647
32 KRT5 NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) SNV Pathogenic
14657 rs59115483 GRCh37: 12:52913573-52913573
GRCh38: 12:52519789-52519789
33 KRT5 NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) SNV Pathogenic
14644 rs60586163 GRCh37: 12:52912921-52912921
GRCh38: 12:52519137-52519137
34 KRT5 NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) SNV Pathogenic
14639 rs57599352 GRCh37: 12:52910472-52910472
GRCh38: 12:52516688-52516688
35 KRT5 NM_000424.4(KRT5):c.1649del (p.Gly550fs) DEL Pathogenic
Pathogenic
14655 rs61126080 GRCh37: 12:52908850-52908850
GRCh38: 12:52515066-52515066
36 KRT5 NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) DEL Likely Pathogenic
623145 rs1565593355 GRCh37: 12:52911901-52911901
GRCh38: 12:52518117-52518117
37 KRT5 NM_000424.4(KRT5):c.*334A>G SNV Uncertain Significance
880775 rs958335838 GRCh37: 12:52908392-52908392
GRCh38: 12:52514608-52514608
38 KRT5 NM_000424.4(KRT5):c.78T>G (p.Ser26=) SNV Uncertain Significance
880894 rs1047343874 GRCh37: 12:52914003-52914003
GRCh38: 12:52520219-52520219
39 KRT5 NM_000424.4(KRT5):c.72C>A (p.Thr24=) SNV Uncertain Significance
880895 rs749195594 GRCh37: 12:52914009-52914009
GRCh38: 12:52520225-52520225
40 KRT5 NM_000424.4(KRT5):c.-7A>C SNV Uncertain Significance
880896 rs1938697448 GRCh37: 12:52914087-52914087
GRCh38: 12:52520303-52520303
41 KRT5 NM_000424.4(KRT5):c.*271C>T SNV Uncertain Significance
882167 rs942362509 GRCh37: 12:52908455-52908455
GRCh38: 12:52514671-52514671
42 KRT5 NM_000424.4(KRT5):c.*232T>C SNV Uncertain Significance
882168 rs761866506 GRCh37: 12:52908494-52908494
GRCh38: 12:52514710-52514710
43 KRT5 NM_000424.4(KRT5):c.556-4C>A SNV Uncertain Significance
882223 rs1938667889 GRCh37: 12:52912948-52912948
GRCh38: 12:52519164-52519164
44 KRT5 NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln) SNV Uncertain Significance
882418 rs182482982 GRCh37: 12:52908823-52908823
GRCh38: 12:52515039-52515039
45 KRT5 NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser) SNV Uncertain Significance
882419 rs200216169 GRCh37: 12:52908878-52908878
GRCh38: 12:52515094-52515094
46 KRT5 NM_000424.4(KRT5):c.364G>A (p.Gly122Ser) SNV Uncertain Significance
882467 rs781712315 GRCh37: 12:52913717-52913717
GRCh38: 12:52519933-52519933
47 KRT5 NM_000424.4(KRT5):c.1344G>A (p.Arg448=) SNV Uncertain Significance
884125 rs1199438663 GRCh37: 12:52910516-52910516
GRCh38: 12:52516732-52516732
48 KRT5 NM_000424.4(KRT5):c.1263G>A (p.Gly421=) SNV Uncertain Significance
884126 rs151313162 GRCh37: 12:52910597-52910597
GRCh38: 12:52516813-52516813
49 KRT5 NM_000424.4(KRT5):c.1244C>T (p.Ala415Val) SNV Uncertain Significance
884127 rs1938619348 GRCh37: 12:52910616-52910616
GRCh38: 12:52516832-52516832
50 KRT5 NM_000424.4(KRT5):c.249C>T (p.Phe83=) SNV Uncertain Significance
884175 rs780670406 GRCh37: 12:52913832-52913832
GRCh38: 12:52520048-52520048

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation:

73
# Symbol AA change Variation ID SNP ID
1 KRT5 p.Pro25Leu VAR_010453 rs57499817

Expression for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation.

Pathways for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

GO Terms for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

Cellular components related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 9.8 SYNM PLEC KRT4
2 cornified envelope GO:0001533 9.76 PKP1 KRT14 KRT1 DSP
3 cell periphery GO:0071944 9.67 PLEC KRT14 FERMT1
4 anchoring junction GO:0070161 9.65 SYNM PLEC PKP1 FERMT1 DSP
5 keratin filament GO:0045095 9.65 KRT1 KRT14 KRT4 KRT5 KRT86
6 intermediate filament GO:0005882 9.58 SYNM SYNC PLEC PKP1 KRT86 KRT5

Biological processes related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.86 KRT5 KRT14 DSP ATP2A2
2 keratinocyte differentiation GO:0030216 9.8 PLEC KRT14 DSP
3 keratinocyte development GO:0003334 9.73 PLEC EXPH5
4 intermediate filament bundle assembly GO:0045110 9.67 PKP1 KRT14
5 intermediate filament cytoskeleton organization GO:0045104 9.63 DSP PLEC SYNM
6 positive regulation of protein O-linked glycosylation GO:1904100 9.62 POMT2 POMT1
7 keratinization GO:0031424 9.56 KRT86 KRT5 KRT4 KRT1
8 intermediate filament organization GO:0045109 9.47 PLEC KRT86 KRT5 KRT4 KRT14 KRT1
9 mannosylation GO:0097502 9.46 POMT2 POMT1

Molecular functions related to Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.65 SYNM PLEC KRT5 KRT14 DSP
2 intermediate filament binding GO:0019215 9.56 SYNM PKP1
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.46 POMT2 POMT1
4 structural constituent of skin epidermis GO:0030280 9.32 PKP1 KRT86 KRT5 KRT4 KRT1

Sources for Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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