MCID: EPD031
MIFTS: 21

Epidermolysis Bullosa Simplex, Ogna Type

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Ogna Type

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Ogna Type:

Name: Epidermolysis Bullosa Simplex, Ogna Type 57 53 59 75 29 13 6 40 73
Ebs-Og 12 53
Ebsog 57 12
Ebs-O 12 59
Epidermolysis Bullosa Simplex Ogna Type 12
Epidermolysis Bullosa Simplex 1 75
O-Ebs 75
Ebs1 75
Ebso 75

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex, ogna type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
epidermolysis bullosa simplex, ogna type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 131950
Disease Ontology 12 DOID:0060736
ICD10 33 Q81.0
Orphanet 59 ORPHA79401
MESH via Orphanet 45 C535962
UMLS via Orphanet 74 C0432317
ICD10 via Orphanet 34 Q81.0
MedGen 42 C0432317
MeSH 44 D016110
UMLS 73 C0432317

Summaries for Epidermolysis Bullosa Simplex, Ogna Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79401Disease definitionEpidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.EpidemiologyPrevalence is unknown and EBS-O has been reported in only two families (121 and 3 affected members, respectively) so far.Clinical descriptionOnset is usually at birth. Patients have easy bruisability, hemorrhagic blistering, and marked nail deformity (onychogryphosis).EtiologyEBS-O is due to a specific missense mutation in the PLEC gene (8q24) encoding plectin.Genetic counselingTransmission is autosomal dominant.PrognosisAlthough the disease can be severely disabling, life-expectancy is normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Epidermolysis Bullosa Simplex, Ogna Type, is also known as ebs-og. An important gene associated with Epidermolysis Bullosa Simplex, Ogna Type is PLEC (Plectin). Affiliated tissues include skin, and related phenotypes are abnormal blistering of the skin and bruising susceptibility

Disease Ontology : 12 An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has material basis in heterozygous mutation in the PLEC1 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : 75 Epidermolysis bullosa simplex, Ogna type: A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.

Description from OMIM: 131950

Related Diseases for Epidermolysis Bullosa Simplex, Ogna Type

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Ogna Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
generalized bruising tendency
skin fragility with non-scarring blistering
small hemorrhagic blisters on hands

Skin Nails Hair Nails:
onychogryphosis of large toenails (occasional)

Skin Nails Hair Skin Electron Microscopy:
blisters originating in basal cells above hemidesmosomes
impaired keratin filament insertion into hemidesmosomes
abnormal hemidesmosome intracellular attachment plates


Clinical features from OMIM:

131950

Human phenotypes related to Epidermolysis Bullosa Simplex, Ogna Type:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
2 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
3 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
4 thick nail 59 32 frequent (33%) Frequent (79-30%) HP:0001805
5 onychogryposis of toenails 32 HP:0008401
6 skin fragility with non-scarring blistering 32 HP:0007585

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Ogna Type

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex, Ogna Type

Genetic Tests for Epidermolysis Bullosa Simplex, Ogna Type

Genetic tests related to Epidermolysis Bullosa Simplex, Ogna Type:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Ogna Type 29 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex, Ogna Type

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Ogna Type:

41
Skin

Publications for Epidermolysis Bullosa Simplex, Ogna Type

Variations for Epidermolysis Bullosa Simplex, Ogna Type

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

75
# Symbol AA change Variation ID SNP ID
1 PLEC p.Arg2110Trp VAR_015817 rs80338756

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Ogna Type:

6
(show top 50) (show all 1230)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_201380.3(PLEC): c.6328C> T (p.Arg2110Trp) single nucleotide variant Pathogenic rs80338756 GRCh37 Chromosome 8, 144998180: 144998180
2 PLEC NM_201380.3(PLEC): c.6328C> T (p.Arg2110Trp) single nucleotide variant Pathogenic rs80338756 GRCh38 Chromosome 8, 143924012: 143924012
3 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
4 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
5 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
6 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
7 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
8 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
9 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
10 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
11 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
12 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
13 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
14 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
15 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
16 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
17 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
18 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
19 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
20 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
21 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
22 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
23 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
24 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
25 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
26 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
27 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
28 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
29 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
30 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
31 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
32 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
33 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
34 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
35 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
36 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
37 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
38 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
39 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
40 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
41 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
42 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
43 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
44 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
45 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
46 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
47 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Likely benign rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
48 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Likely benign rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
49 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
50 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800

Expression for Epidermolysis Bullosa Simplex, Ogna Type

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Pathways for Epidermolysis Bullosa Simplex, Ogna Type

GO Terms for Epidermolysis Bullosa Simplex, Ogna Type

Sources for Epidermolysis Bullosa Simplex, Ogna Type

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