EBSDM
MCID: EPD028
MIFTS: 48

Epidermolysis Bullosa Simplex, Dowling-Meara Type (EBSDM)

Categories: Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Dowling-Meara Type

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Dowling-Meara Type:

Name: Epidermolysis Bullosa Simplex, Dowling-Meara Type 56 52 58 73 13 54
Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type 56 52 73
Epidermolysis Bullosa Herpetiformis, Dowling-Meara 29 6 39
Epidermolysis Bullosa Simplex, Generalized Severe 56 58 73
Epidermolysis Bullosa Simplex, Herpetiformis 12 52 58
Epidermolysis Bullosa Simplex Dowling-Meara Type 12 15
Ebs-Dm 52 73
Ebsdm 56 12
Epidermolysis Bullosa Herpetiformis Dowling-Meara Type 12
Epidermolysis Bullosa Herpetiformis Dowling-Meara 71
Generalized Severe Epidermolysis Bullosa Simplex 12
Dowling-Meara Type Epidermolysis Bullosa Simplex 52
Ebs, Generalized Severe 58
Ebs-Gen Sev 12
Dm-Ebs 73

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex, generalized severe
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early infancy
infant death may occur secondary to sepsis
disease exacerbation during summer due to heat
some patients show improvement during summer or with fever
improvement with age


HPO:

31
epidermolysis bullosa simplex, dowling-meara type:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060735
OMIM 56 131760
MeSH 43 D016110
ICD10 32 Q81.0
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 72 C0079295
Orphanet 58 ORPHA79396
MedGen 41 C0079295
UMLS 71 C0079295

Summaries for Epidermolysis Bullosa Simplex, Dowling-Meara Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79396 Definition Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. Epidemiology Worldwide prevalence is unknown but reported prevalence in Scotland is 1/1,700,000. Clinical description Onset is usually at birth with large, frequently hemorrhagic blisters. After the neonatal period, the lesions take the typical herpetiform (or herpes-like) clustering with central healing pattern. Blister formation gradually reduces starting from late childhood. By childhood, most patients begin to develop confluent thickening and hyperkeratosis (keratoderma) of the palms and soles which may partially resolve in some patients during mid- to late-adulthood. Along with blisters, skin findings commonly include mild atrophic scarring and post-inflammatory pigmentation, nail shedding and nail dystrophy, as well as occasional milia formation. Lesions may improve in some patients in case of fever, unlike other forms of EB in which warmer weather exacerbates disease activity. The reason for this is unknown. Extracutaneous complications can occur including oral cavity blistering, constipation and, rarely, tracheolaryngeal compromise. Etiology EBS-DM is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes , encoding keratin 5 and keratin 14, respectively. Genetic counseling Transmission is autosomal dominant and sporadic cases are frequent. Prognosis EBS-DM is frequently associated with marked morbidity in infancy and early childhood and, in rare cases, may result in death during early infancy. Patients also have a markedly increased risk of basal cell carcinoma by mid-adulthood (cumulative risk of 44% by age 55). Visit the Orphanet disease page for more resources.

MalaCards based summary : Epidermolysis Bullosa Simplex, Dowling-Meara Type, also known as epidermolysis bullosa herpetiformis, dowling-meara type, is related to epidermolysis bullosa simplex, generalized and bullous pemphigoid, and has symptoms including nail shedding An important gene associated with Epidermolysis Bullosa Simplex, Dowling-Meara Type is KRT14 (Keratin 14), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and tonsil, and related phenotypes are nail dystrophy and skin vesicle

Disease Ontology : 12 An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has material basis in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.

OMIM : 56 Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (131900) and the milder and localized Weber-Cockayne type (131800) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See 601001 for a rare autosomal recessive form caused by mutation in the KRT14 gene. (131760)

UniProtKB/Swiss-Prot : 73 Epidermolysis bullosa simplex, Dowling-Meara type: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.

Related Diseases for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Diseases related to Epidermolysis Bullosa Simplex, Dowling-Meara Type via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 86, show less)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, generalized 31.5 KRT5 KRT14
2 bullous pemphigoid 31.2 PLEC KRT5 KRT14
3 palmoplantar keratosis 30.5 PKP1 KRT5 KRT10
4 epidermolysis bullosa simplex 30.4 PLEC KRT5 KRT14 KRT10 EXPH5 COL7A1
5 epidermolysis bullosa 29.9 PLEC PKP1 KRT5 KRT14 KRT10 EXPH5
6 skin disease 29.8 PLEC KRT5 KRT14 KRT10 EXPH5 COL7A1
7 epidermolysis bullosa simplex, ogna type 11.5
8 epidermolysis bullosa simplex with migratory circinate erythema 11.5
9 dermatitis herpetiformis, familial 10.6
10 dermatitis herpetiformis 10.6
11 juvenile dermatitis herpetiformis 10.6
12 pyloric atresia 10.6
13 loose anagen hair syndrome 10.6
14 hydronephrosis 10.6
15 keratosis 10.6
16 sweat gland neoplasm 10.5 KRT5 KRT14
17 benign breast adenomyoepithelioma 10.5 KRT5 KRT14
18 breast adenomyoepithelioma 10.5 KRT5 KRT14
19 pregnancy adenoma 10.5 KRT5 KRT14
20 esophageal basaloid squamous cell carcinoma 10.5 KRT5 KRT14
21 ceruminous adenocarcinoma 10.4 KRT5 KRT14
22 breast myoepithelial neoplasm 10.4 KRT5 KRT14
23 breast metaplastic carcinoma 10.4 KRT5 KRT14
24 epidermolysis bullosa simplex, autosomal recessive 1 10.4 KRT5 KRT14
25 odontoma 10.4 KRT5 KRT14
26 breast myoepithelial carcinoma 10.4 KRT5 KRT14
27 gastric squamous cell carcinoma 10.4 KRT5 KRT10
28 striate palmoplantar keratoderma 10.4 KRT14 KRT10
29 lipid-rich carcinoma 10.4 KRT5 KRT14
30 micronodular basal cell carcinoma 10.4 KRT5 KRT14
31 benign peritoneal mesothelioma 10.4 KRT5 KRT14
32 pinguecula 10.4 KRT14 KRT10
33 pericardial mesothelioma 10.4 KRT5 KRT10
34 apocrine sweat gland neoplasm 10.4 KRT5 KRT14
35 apocrine adenocarcinoma 10.4 KRT5 KRT14
36 eccrine acrospiroma 10.4 KRT5 KRT10
37 clear cell basal cell carcinoma 10.4 KRT5 KRT14
38 intraductal breast neoplasm 10.4 KRT5 KRT14
39 epidermolysis bullosa simplex, localized 10.4 KRT5 KRT14
40 cystic basal cell carcinoma 10.4 KRT5 KRT14
41 intracystic papillary adenoma 10.4 KRT5 KRT14
42 cloacogenic carcinoma 10.4 KRT5 KRT4
43 intraductal papilloma 10.4 KRT5 KRT14
44 pancreatoblastoma 10.3 KRT14 KRT10
45 bullous skin disease 10.3 PLEC PKP1
46 skin papilloma 10.3 KRT14 KRT10
47 sweat gland disease 10.3 KRT5 KRT14
48 sebaceous adenocarcinoma 10.3 KRT5 KRT14
49 epidermolysis bullosa simplex with muscular dystrophy 10.3 PLEC NAT9
50 dowling-degos disease 1 10.3
51 thoracic benign neoplasm 10.3 KRT5 KRT14
52 large cell acanthoma 10.3 KRT5 KRT14 KRT10
53 eccrine sweat gland neoplasm 10.3 KRT5 KRT14 KRT10
54 borst-jadassohn intraepidermal carcinoma 10.3 KRT5 KRT14 KRT10
55 breast benign neoplasm 10.3 KRT5 KRT14
56 palmoplantar keratoderma, epidermolytic 10.3 KRT5 KRT14 KRT10
57 dyschromatosis universalis hereditaria 10.3 KRT5 KRT4
58 primary cutaneous amyloidosis 10.3 KRT5 KRT14 KRT10
59 skin squamous cell carcinoma 10.3 KRT5 KRT14 KRT10
60 epidermolysis bullosa junctionalis with pyloric atresia 10.2 PLEC NAT9
61 verrucous carcinoma 10.2 KRT5 KRT10
62 hidradenitis 10.2 KRT14 KRT10
63 reticulate acropigmentation of kitamura 10.2 KRT5 KRT4 KRT14
64 hard palate cancer 10.2 KRT5 KRT4 KRT14
65 dowling-degos disease 10.2 KRT5 KRT4 KRT14
66 white sponge nevus 1 10.2 KRT4 KRT14 KRT10
67 hidradenitis suppurativa 10.2 KRT14 KRT10
68 aplasia cutis congenita, nonsyndromic 10.2
69 eczema herpeticum 10.2
70 inherited epidermolysis bullosa 10.2
71 papilloma 10.2 KRT5 KRT14 KRT10
72 keratosis, seborrheic 10.1 KRT5 KRT10
73 cardiomyopathy, dilated, with woolly hair and keratoderma 10.1 PKP1 KRT74
74 epidermolysis bullosa, junctional, non-herlitz type 10.0 PLEC KRT14 COL7A1
75 tonsil cancer 10.0 KRT5 KRT14
76 epidermolytic hyperkeratosis 10.0 NAT9 KRT5 KRT14 KRT10
77 pemphigus gestationis 9.9 PKP1 NAT9 EXPH5
78 epidermolysis bullosa simplex with mottled pigmentation 9.9 KRT5 KRT14 KRT10 EXPH5
79 ectodermal dysplasia 9.9 PKP1 KRT74 KRT14
80 kindler syndrome 9.9 NAT9 COL7A1
81 epidermolysis bullosa dystrophica 9.8 PLEC NAT9 KRT14 COL7A1
82 pachyonychia congenita 1 9.8 PLEC KRT5 KRT4 KRT14 KRT10
83 ichthyosis 9.8 KRT5 KRT4 KRT10 COL7A1
84 junctional epidermolysis bullosa 9.7 PLEC KRT14 EXPH5 COL7A1
85 recessive dystrophic epidermolysis bullosa 9.6 NAT9 COL7A1
86 vesiculobullous skin disease 8.5 PLEC PKP1 NAT9 KRT5 KRT4 KRT14

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:



Diseases related to Epidermolysis Bullosa Simplex, Dowling-Meara Type

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Human phenotypes related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

58 31 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
2 skin vesicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0200037
3 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
4 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
5 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
6 atrophic scars 58 31 occasional (7.5%) Frequent (79-30%) HP:0001075
7 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
8 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
9 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
10 hypopigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001010
11 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
12 hyperpigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000953
13 oral mucosal blisters 58 31 occasional (7.5%) Occasional (29-5%) HP:0200097
14 abnormal blistering of the skin 58 31 Very frequent (99-80%) HP:0008066
15 growth delay 31 HP:0001510
16 nail dysplasia 31 HP:0002164
17 palmoplantar hyperkeratosis 31 HP:0000972

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
milia
blistering, generalized, recurrent, severe (occurs after mild physical trauma)
blistering occurs in clusters ('herpetiform', 'arcuate')
blistering of hands, elbows, feet, knees
hemorrhagic blisters
more
Growth Other:
growth retardation

Skin Nails Hair Skin Electron Microscopy:
cleavage within basal keratinocytes
clumping of keratin filaments in basal epidermal cells

Skin Nails Hair Nails:
nail shedding
dystrophic nails

Head And Neck Mouth:
oral blistering

Clinical features from OMIM:

131760

UMLS symptoms related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:


nail shedding

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Drugs for Epidermolysis Bullosa Simplex, Dowling-Meara Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 7, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560 441411
2 Gastrointestinal Agents Phase 3
3 Anti-Infective Agents Phase 3
4 Erythromycin Ethylsuccinate Phase 3
5 Erythromycin stearate Phase 3
6 Erythromycin Estolate Phase 3
7 Anti-Bacterial Agents Phase 3

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
2 Diacerin for the Treatment of Epidermolysis Bullosa Simplex Unknown status NCT02470689 Phase 2 Diacerin cream

Search NIH Clinical Center for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Genetic Tests for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Genetic tests related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Herpetiformis, Dowling-Meara 29 KRT14 KRT5

Anatomical Context for Epidermolysis Bullosa Simplex, Dowling-Meara Type

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

40
Skin, Breast, Tonsil

Publications for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Articles related to Epidermolysis Bullosa Simplex, Dowling-Meara Type:

(showing 28, show less)
# Title Authors PMID Year
1
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. 56 6
16098032 2005
2
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 56 6
10733662 2000
3
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. 56 6
10730767 2000
4
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. 56 6
10234505 1999
5
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. 56 6
1372711 1992
6
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 56 6
1717157 1991
7
Epidermolysis bullosa simplex, Dowling-Meara type. A report of two cases with different types of tonofilament clumping. 61 56
8427826 1993
8
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex. 56
19267394 2009
9
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 56
18374450 2008
10
A 'hot-spot' mutation alters the mechanical properties of keratin filament networks. 6
11331879 2001
11
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. 6
10583131 1999
12
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). 6
9804355 1998
13
Epidermolysis Bullosa Simplex 6
20301543 1998
14
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. 6
8757772 1996
15
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. 56
7682695 1993
16
Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling-Meara) in a mother, two affected children, and an affected fetus. 56
1438067 1992
17
Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review. 56
1610681 1992
18
Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. 56
7084543 1982
19
Epidermolysis bullosa resembling juvenile dermatitis herpetiformis. 56
13149726 1954
20
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene. 54 61
16439965 2006
21
Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. 54 61
1721080 1991
22
Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type. 61
22890742 2012
23
Epidermolysis bullosa simplex, Dowling-Meara type with eruptive nevi. 61
22909366 2012
24
Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities. 61
10957900 2000
25
An additional case of epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation. 61
10651570 1999
26
Epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation: the relationship between EBS herpetiformis and EBS with mottled pigmentation. 61
8844751 1996
27
Epidermolysis bullosa of the Dowling-Meara type: clinical and ultrastructural findings in five patients. 61
8806120 1996
28
Severe infantile epidermolysis bullosa simplex. Dowling-Meara type. 61
3511860 1986

Variations for Epidermolysis Bullosa Simplex, Dowling-Meara Type

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Dowling-Meara Type:

6 (showing 13, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT14 NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)SNV Pathogenic 14612 rs60399023 17:39742714-39742714 17:41586462-41586462
2 KRT14 NM_000526.5(KRT14):c.374G>A (p.Arg125His)SNV Pathogenic 14613 rs58330629 17:39742713-39742713 17:41586461-41586461
3 KRT14 NM_000526.5(KRT14):c.356T>C (p.Met119Thr)SNV Pathogenic 14619 rs28928893 17:39742731-39742731 17:41586479-41586479
4 KRT14 NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)SNV Pathogenic 14621 rs58380626 17:39739518-39739518 17:41583266-41583266
5 KRT14 NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln)SNV Pathogenic 14622 rs57364972 17:39739505-39739505 17:41583253-41583253
6 KRT14 NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys)SNV Pathogenic 14623 rs58762773 17:39739497-39739497 17:41583245-41583245
7 KRT14 NM_000526.5(KRT14):c.368A>G (p.Asn123Ser)SNV Pathogenic 14628 rs60171927 17:39742719-39742719 17:41586467-41586467
8 KRT5 NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly)SNV Pathogenic 14638 rs61348633 12:52910436-52910436 12:52516652-52516652
9 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr)SNV Pathogenic 14641 rs58072617 12:52911486-52911486 12:52517702-52517702
10 KRT5 NM_000424.4(KRT5):c.523C>T (p.Leu175Phe)SNV Pathogenic 14645 rs57890479 12:52913558-52913558 12:52519774-52519774
11 KRT5 NM_000424.4(KRT5):c.541T>C (p.Ser181Pro)SNV Pathogenic 14650 rs60715293 12:52913540-52913540 12:52519756-52519756
12 KRT5 NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)SNV Pathogenic 21174 rs59190510 12:52910431-52910431 12:52516647-52516647
13 KRT5 NM_000424.4(KRT5):c.555+1G>ASNV Pathogenic 265218 rs886039403 12:52913525-52913525 12:52519741-52519741

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex, Dowling-Meara Type:

73 (showing 27, show less)
# Symbol AA change Variation ID SNP ID
1 KRT14 p.Arg125Cys VAR_003837 rs60399023
2 KRT14 p.Arg125His VAR_003838 rs58330629
3 KRT14 p.Leu419Gln VAR_003845 rs57364972
4 KRT14 p.Met119Thr VAR_010440 rs28928893
5 KRT14 p.Gln120Arg VAR_010441 rs60993843
6 KRT14 p.Leu122Phe VAR_010442 rs59110575
7 KRT14 p.Asn123Ser VAR_010443 rs60171927
8 KRT14 p.Arg125Ser VAR_010444
9 KRT14 p.Tyr129Asp VAR_010445 rs60470268
10 KRT14 p.Asn123Lys VAR_023720 rs3826549
11 KRT14 p.Arg125Gly VAR_023721 rs60399023
12 KRT14 p.Leu130Pro VAR_023722 rs57522245
13 KRT14 p.Arg417Pro VAR_027721 rs61085704
14 KRT14 p.Arg416Pro VAR_031639 rs60622724
15 KRT5 p.Asn193Lys VAR_003873 rs60586163
16 KRT5 p.Glu475Gly VAR_003877 rs61348633
17 KRT5 p.Leu175Phe VAR_010456 rs57890479
18 KRT5 p.Asn176Ser VAR_010457 rs59092197
19 KRT5 p.Phe179Ser VAR_010458 rs57781042
20 KRT5 p.Ser181Pro VAR_010459 rs60715293
21 KRT5 p.Ile467Thr VAR_010466 rs60271599
22 KRT5 p.Glu477Lys VAR_010467 rs59190510
23 KRT5 p.Glu475Lys VAR_023728 rs57155193
24 KRT5 p.Glu168Lys VAR_027722 rs58619430
25 KRT5 p.Arg169Pro VAR_027723 rs60720877
26 KRT5 p.Thr469Pro VAR_027726 rs60596287
27 KRT5 p.Arg165Ser VAR_071630 rs267607456

Expression for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Dowling-Meara Type.

Pathways for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Pathways related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 PKP1 KRT74 KRT5 KRT4 KRT14 KRT10
2 11.95 PLEC KRT5 KRT4 KRT10
3
Show member pathways
11.89 PKP1 KRT74 KRT5 KRT4 KRT14 KRT10
4
Show member pathways
11.05 PLEC PKP1 KRT5 KRT4 KRT14

GO Terms for Epidermolysis Bullosa Simplex, Dowling-Meara Type

Cellular components related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.26 KRT74 KRT5 KRT4 KRT14
2 intermediate filament GO:0005882 9.17 PLEC PKP1 KRT74 KRT5 KRT4 KRT14

Biological processes related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.58 KRT5 KRT4 CDC42BPB
2 epidermis development GO:0008544 9.5 KRT5 KRT14 COL7A1
3 actomyosin structure organization GO:0031032 9.43 CDC42BPG CDC42BPB
4 keratinization GO:0031424 9.43 PKP1 KRT74 KRT5 KRT4 KRT14 KRT10
5 intermediate filament cytoskeleton organization GO:0045104 9.37 PLEC KRT74
6 hemidesmosome assembly GO:0031581 9.33 PLEC KRT5 KRT14
7 intermediate filament bundle assembly GO:0045110 9.26 PKP1 KRT14
8 cornification GO:0070268 9.1 PKP1 KRT74 KRT5 KRT4 KRT14 KRT10

Molecular functions related to Epidermolysis Bullosa Simplex, Dowling-Meara Type according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 9.16 PKP1 KRT10
2 structural constituent of cytoskeleton GO:0005200 9.13 PLEC KRT5 KRT14
3 keratin filament binding GO:1990254 8.62 KRT74 KRT14

Sources for Epidermolysis Bullosa Simplex, Dowling-Meara Type

3 CDC
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17 EFO
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33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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