EBNS
MCID: EPD055
MIFTS: 19

Epidermolysis Bullosa, Nonspecific, Autosomal Recessive (EBNS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

MalaCards integrated aliases for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

Name: Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 58 30 13 6 41 74
Ebns 58 76
Epidermolysis Bullosa Simplex Due to Exophilin 5 Deficiency 60
Epidermolysis Bullosa, Non-Specific, Autosomal Recessive 76
Ebs-Ar Exophilin 5 60

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex due to exophilin 5 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
skin lesions are primarily trauma-induced but occasionally appear spontaneously


HPO:

33
epidermolysis bullosa, nonspecific, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 615028
MeSH 45 D004820
ICD10 via Orphanet 35 Q81.0
Orphanet 60 ORPHA412189
UMLS 74 C3554367

Summaries for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa, non-specific, autosomal recessive: A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation.

MalaCards based summary : Epidermolysis Bullosa, Nonspecific, Autosomal Recessive, is also known as ebns. An important gene associated with Epidermolysis Bullosa, Nonspecific, Autosomal Recessive is EXPH5 (Exophilin 5). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and epidermal acanthosis

Description from OMIM: 615028

Related Diseases for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Symptoms & Phenotypes for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Human phenotypes related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 33 HP:0000962
2 epidermal acanthosis 33 HP:0025092
3 fragile skin 33 HP:0001030

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
skin fragility
skin blistering, intermittent
residual slightly atrophic scarring
residual postinflammatory hyperpigmentation, moderate
diffuse pigmentary skin mottling, mild, on trunk and proximal limbs

Skin Nails Hair Skin Electron Microscopy:
basement membrane keratinocyte disruption within lower epidermis
aggregated intermediate filaments
increased number of perinuclear vesicles
vesicles clustered near plasma membrane

Skin Nails Hair Skin Histology:
acanthosis, mild
hyperkeratosis, mild
irregular ruffled or jagged appearance at dermal-epidermal junction

Clinical features from OMIM:

615028

Drugs & Therapeutics for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Genetic Tests for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Genetic tests related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 30 EXPH5

Anatomical Context for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

MalaCards organs/tissues related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

42
Skin

Publications for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Articles related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

# Title Authors Year
1
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. ( 23176819 )
2012
2
Evidence against direct connections to PPRF EBNs from SC in the monkey. ( 10980004 )
2000

Variations for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

ClinVar genetic disease variations for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXPH5 EXPH5, 1-BP DEL, 5786C deletion Pathogenic

Expression for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Search GEO for disease gene expression data for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive.

Pathways for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

GO Terms for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Sources for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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