EBNS
MCID: EPD055
MIFTS: 18

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 57 29 13 6 40 73
Ebns 57 75
Epidermolysis Bullosa Simplex Due to Exophilin 5 Deficiency 59
Epidermolysis Bullosa, Non-Specific, Autosomal Recessive 75
Ebs-Ar Exophilin 5 59

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex due to exophilin 5 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa, nonspecific, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 615028
Orphanet 59 ORPHA412189
ICD10 via Orphanet 34 Q81.0
MeSH 44 D004820
UMLS 73 C3554367

Summaries for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 epidermal acanthosis 32 HP:0025092
3 fragile skin 32 HP:0001030

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 29 EXPH5

Anatomical Context for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

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

41
Skin

Publications for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Articles related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

# Title Authors Year
1
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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