EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: EBNS
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615028
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001030) Fragile skin 25 / 7739
2
(HPO:0000962) Hyperkeratosis 216 / 7739
3
(OMIM) Increased number of perinuclear vesicles 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Residual postinflammatory hyperpigmentation, moderate 1 / 7739
6
(OMIM) Aggregated intermediate filaments 1 / 7739
7
(OMIM) Diffuse pigmentary skin mottling, mild, on trunk and proximal limbs 1 / 7739
8
(OMIM) Acanthosis, mild 1 / 7739
9
(OMIM) Basement membrane keratinocyte disruption within lower epidermis 1 / 7739
10
(OMIM) Vesicles clustered near plasma membrane 1 / 7739
11
(OMIM) Irregular ruffled or jagged appearance at dermal-epidermal junction 1 / 7739
12
(OMIM) Skin blistering, intermittent 1 / 7739
13
(OMIM) Residual slightly atrophic scarring 1 / 7739
14
(OMIM) Hyperkeratosis, mild 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McGrath et al. (2012) studied an Iraqi family in which 3 of 8 sibs born to first-cousin parents had inherited skin fragility. The clinical features were apparent from early childhood and consisted primarily of trauma-induced scale crusts and ...
Molecular genetics OMIM Using DNA from an affected sib with inherited skin fragility from a consanguineous Iraqi family, who was negative for mutation in the KRT5 (148040) and KRT14 (148066) genes, McGrath et al. (2012) performed whole-exome sequencing and identified homozygosity ...