O-EBS
MCID: EPD031
MIFTS: 21

Epidermolysis Bullosa Simplex, Ogna Type (O-EBS)

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 58 54 60 76 30 13 6 41 74
Ebs-Og 12 54
Ebsog 58 12
Ebs-O 12 60
Epidermolysis Bullosa Simplex Ogna Type 12
Epidermolysis Bullosa Simplex 1 76
O-Ebs 76
Ebs1 76
Ebso 76

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex, ogna type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
epidermolysis bullosa simplex, ogna type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060736
OMIM 58 131950
MeSH 45 D016110
ICD10 34 Q81.0
MESH via Orphanet 46 C535962
ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C0432317
Orphanet 60 ORPHA79401
MedGen 43 C0432317
UMLS 74 C0432317

Summaries for Epidermolysis Bullosa Simplex, Ogna Type

NIH Rare Diseases : 54 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 bruising susceptibility and skin erosion

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 : 76 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

Human phenotypes related to Epidermolysis Bullosa Simplex, Ogna Type:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
2 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
3 abnormal blistering of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008066
4 onychogryposis 33 frequent (33%) HP:0001805
5 thick nail 60 Frequent (79-30%)
6 onychogryposis of toenails 33 HP:0008401
7 skin fragility with non-scarring blistering 33 HP:0007585

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex, Ogna Type

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

42
Skin

Publications for Epidermolysis Bullosa Simplex, Ogna Type

Articles related to Epidermolysis Bullosa Simplex, Ogna Type:

# Title Authors Year
1
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. ( 11851880 )
2002

Variations for Epidermolysis Bullosa Simplex, Ogna Type

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

76
# 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 1708)
# 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.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh37 Chromosome 8, 144994064: 144994064
4 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh38 Chromosome 8, 143919896: 143919896
5 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh37 Chromosome 8, 144994044: 144994044
6 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh38 Chromosome 8, 143919876: 143919876
7 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh37 Chromosome 8, 144993572: 144993572
8 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh38 Chromosome 8, 143919404: 143919404
9 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh37 Chromosome 8, 144993333: 144993333
10 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh38 Chromosome 8, 143919165: 143919165
11 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh37 Chromosome 8, 144993230: 144993230
12 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh38 Chromosome 8, 143919062: 143919062
13 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh37 Chromosome 8, 144992049: 144992049
14 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh38 Chromosome 8, 143917881: 143917881
15 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh37 Chromosome 8, 144991995: 144991995
16 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh38 Chromosome 8, 143917827: 143917827
17 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh37 Chromosome 8, 144991428: 144991428
18 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh38 Chromosome 8, 143917260: 143917260
19 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh37 Chromosome 8, 144991205: 144991205
20 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh38 Chromosome 8, 143917037: 143917037
21 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh37 Chromosome 8, 144990879: 144990879
22 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh38 Chromosome 8, 143916711: 143916711
23 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh37 Chromosome 8, 144990587: 144990587
24 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh38 Chromosome 8, 143916419: 143916419
25 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh37 Chromosome 8, 145006793: 145006793
26 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh38 Chromosome 8, 143932625: 143932625
27 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
28 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
29 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh37 Chromosome 8, 145004714: 145004714
30 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh38 Chromosome 8, 143930546: 143930546
31 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh37 Chromosome 8, 145002070: 145002070
32 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh38 Chromosome 8, 143927902: 143927902
33 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh37 Chromosome 8, 145002043: 145002043
34 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh38 Chromosome 8, 143927875: 143927875
35 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh37 Chromosome 8, 145001652: 145001652
36 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh38 Chromosome 8, 143927484: 143927484
37 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh37 Chromosome 8, 145001512: 145001512
38 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh38 Chromosome 8, 143927344: 143927344
39 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh37 Chromosome 8, 144999541: 144999541
40 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh38 Chromosome 8, 143925373: 143925373
41 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh37 Chromosome 8, 144999540: 144999540
42 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh38 Chromosome 8, 143925372: 143925372
43 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh37 Chromosome 8, 144999453: 144999453
44 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh38 Chromosome 8, 143925285: 143925285
45 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh37 Chromosome 8, 144999015: 144999015
46 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh38 Chromosome 8, 143924847: 143924847
47 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh37 Chromosome 8, 144998932: 144998932
48 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh38 Chromosome 8, 143924764: 143924764
49 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh37 Chromosome 8, 144998868: 144998868
50 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh38 Chromosome 8, 143924700: 143924700

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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