Epidermolysis bullosa simplex, Ogna type

General Information (adopted from Orphanet):

Synonyms, Signs: EBS-OG
EBS-O
Number of Symptoms 15
OrphanetNr: 79401
OMIM Id: 131950
ICD-10: Q81.0
UMLs: C0432317
MeSH: C535962
MedDRA:
Snomed: 398071000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Basal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
2
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
3
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
4
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
5
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
6
 (HPO:0007585) Skin fragility with non-scarring blistering 1 / 7739
7
 (HPO:0008401) Onychogryposis of toenails 4 / 7739
8
 (OMIM) Blisters originating in basal cells above hemidesmosomes 1 / 7739
9
 (OMIM) Generalized bruising tendency 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Abnormal hemidesmosome intracellular attachment plates 1 / 7739
12
 (OMIM) Small hemorrhagic blisters on hands 1 / 7739
13
 (OMIM) Impaired keratin filament insertion into hemidesmosomes 1 / 7739
14
 (OMIM) Onychogryphosis of large toenails (occasional) 1 / 7739
15
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM This form of EBS was identified by Gedde-Dahl (1971) in a large Norwegian kindred living in the town of Ogna. It was differentiated from the more generalized form of Koebner (131900) and the localized form of Weber and ...
Molecular genetics OMIM Koss-Harnes et al. (2002) reported that the EBS Ogna phenotype is due to a site-specific missense mutation within rod domain of plectin (601282.0005). Mutations in plectin also cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (226670). Koss-Harnes ...