EBNS
MCID: EPD055
MIFTS: 27

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 39 70
Ebns 57 72
Epidermolysis Bullosa Simplex Due to Exophilin 5 Deficiency 58
Epidermolysis Bullosa, Non-Specific, Autosomal Recessive 72
Ebs Due to Exophilin 5 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex due to exophilin 5 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
epidermolysis bullosa, nonspecific, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 615028
MeSH 44 D004820
ICD10 via Orphanet 33 Q81.0
Orphanet 58 ORPHA412189
UMLS 70 C3554367

Summaries for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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). The drugs Trioxsalen and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and pancreas, and related phenotypes are hyperkeratosis and fragile skin

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 fragile skin 31 HP:0001030
3 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Drugs for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trioxsalen Approved 3902-71-4 5585
2 Anesthetics
3 Dihematoporphyrin Ether
4 Hematoporphyrin Derivative

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Family Nurse Practitioner Perception of Journal Abstract Usefulness in Clinical Decision-making: a Randomized Controlled Trial Unknown status NCT01255488
2 The Application of Electro-magnetic Navigation Bronchoscopy (ENB) and Photodynamic Therapy in the Treatment for Early Lung Cancer Unknown status NCT03211078

Search 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:

40
Skin, Eye, Pancreas

Publications for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Articles related to Epidermolysis Bullosa, Nonspecific, Autosomal Recessive:

(show all 47)
# Title Authors PMID Year
1
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. 57 6
23176819 2012
2
Identification of blood-red color formation in edible bird's nests provides a new strategy for safety control. 61
33765463 2021
3
Molecular analysis of edible bird's nest and rapid authentication of Aerodramus fuciphagus from its subspecies by PCR-RFLP based on the cytb gene. 61
32930302 2020
4
A low cost smart system to analyze different types of edible Bird's nest adulteration based on colorimetric sensor array. 61
31590759 2019
5
Characterization of edible bird's nest of different production, species and geographical origins using nutritional composition, physicochemical properties and antioxidant activities. 61
29803459 2018
6
Rapid authentication of edible bird's nest by FTIR spectroscopy combined with chemometrics. 61
29194631 2018
7
Origin of Red Color in Edible Bird's Nests Directed by the Binding of Fe Ions to Acidic Mammalian Chitinase-like Protein. 61
29751728 2018
8
[A study on identification of edible bird's nests by DNA barcodes]. 61
29376257 2017
9
Recent advances in the identification and authentication methods of edible bird's nest. 61
28873672 2017
10
A rapid and nondestructive method to determine the distribution map of protein, carbohydrate and sialic acid on Edible bird's nest by hyper-spectral imaging and chemometrics. 61
28372169 2017
11
Edible bird's nest modulate intracellular molecular pathways of influenza A virus infected cells. 61
28056926 2017
12
A comprehensive review on edible bird nests and swiftlet farming. 61
27854193 2016
13
In vitro and in vivo mechanism of immunomodulatory and antiviral activity of Edible Bird's Nest (EBN) against influenza A virus (IAV) infection. 61
26976767 2016
14
Isolation and identification of mites associated with raw and commercial farm edible bird nests. 61
33557469 2015
15
Effects of edible bird's nest on hippocampal and cortical neurodegeneration in ovariectomized rats. 61
25920003 2015
16
Enzyme immunoassay for the detection of porcine gelatine in edible bird's nests. 61
25861981 2015
17
Culture and molecular identification of fungal contaminants in edible bird nests. 61
26429550 2015
18
Metabolite profiling of edible bird's nest using gas chromatography/mass spectrometry and liquid chromatography/mass spectrometry. 61
24797951 2014
19
Structural analysis of raw and commercial farm edible bird nests. 61
24862046 2014
20
Prevalence of nitrite and nitrate contents and its effect on edible bird nest's color. 61
24279333 2013
21
Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex. 61
22892599 2013
22
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009. 61
22282276 2012
23
Embedded biomimetic nanostructures for enhanced optical absorption in thin-film solar cells. 61
21747544 2011
24
A Gaussian Mixture Model-based continuous Boundary Detection for 3D sensor networks. 61
22163619 2010
25
Mapping the oculomotor system. 61
18718275 2008
26
The neuroanatomical basis of slow saccades in spinocerebellar ataxia type 2 (Wadia-subtype). 61
18718357 2008
27
Membrane channel properties of premotor excitatory burst neurons may underlie saccade slowing after lesions of omnipause neurons. 61
16511656 2006
28
Saccade initiation and the reliability of motor signals involved in the generation of saccadic eye movements. 61
16649709 2006
29
Novel inter-series hybrids in Solanum, section Petota. 61
15517147 2005
30
Mitotic-cycle time and the development of embryo and endosperm in compatible and incompatible crosses in tuber-bearing Solanum species. 61
11444701 2001
31
Evidence against direct connections to PPRF EBNs from SC in the monkey. 61
10980004 2000
32
Determination of edible bird's nest and its products by gas chromatography. 61
10654789 2000
33
Analysis of primate IBN spike trains using system identification techniques. II. Relationship to gaze, eye, and head movement dynamics during head-free gaze shifts. 61
9405545 1997
34
Are laws that govern behavior embedded in the structure of the CNS? The case of Hering's law. 61
8560792 1995
35
Endosperm Balance Number and the polar-nuclei activation hypotheses for endosperm development in interspecific crosses of Solanaceae and Gramineae, respectively. 61
24169968 1995
36
Production of somatic hybrids between frost-tolerant Solanum commersonii and S. tuberosum: characterization of hybrid plants. 61
24190212 1993
37
Endosperm dosage relationships among Lycopersicon species. 61
24202520 1992
38
Allelism of Endosperm Balance Number (EBN) in Mexican tuber-bearing Solanum species. 61
24220889 1990
39
Neural correlates of horizontal vestibulo-ocular reflex cancellation during rapid eye movements in the cat. 61
2621648 1989
40
Anatomical evidence of the projection of pontine omnipause neurons to midbrain regions controlling vertical eye movements. 61
2592601 1989
41
Modified Stamey procedure for bladder neck suspension. 61
2702402 1989
42
Excitatory input to burst neurons from the labyrinth and its mediating pathway in the cat: location and functional characteristics of burster-driving neurons. 61
2466678 1988
43
Anatomy and physiology of saccadic burst neurons in the alert squirrel monkey. I. Excitatory burst neurons. 61
3734160 1986
44
Direct projection of pause neurons to nystagmus-related excitatory burst neurons in the cat pontine reticular formation. 61
6319173 1984
45
The significance of genic balance to endosperm development in interspecific crosses. 61
24302359 1980
46
The mechanism for nonspecific lipase from rat pancreas. 61
949487 1976
47
EBV-determined nuclear antigen (EBNA)-positive cells in the peripheral blood of infectious mononucleosis patients. 61
55396 1976

Variations for Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXPH5 EXPH5, 1-BP DEL, 5786C Deletion Pathogenic 39467 GRCh37:
GRCh38:
2 EXPH5 NM_015065.3(EXPH5):c.278dup (p.Asn93fs) Duplication Pathogenic 997598 GRCh37: 11:108412380-108412381
GRCh38: 11:108541653-108541654
3 EXPH5 NM_015065.3(EXPH5):c.280+1G>A SNV Pathogenic 998314 GRCh37: 11:108412378-108412378
GRCh38: 11:108541651-108541651
4 EXPH5 NM_015065.3(EXPH5):c.3907C>T (p.Arg1303Ter) SNV Pathogenic 998315 GRCh37: 11:108382327-108382327
GRCh38: 11:108511600-108511600
5 EXPH5 NM_015065.3(EXPH5):c.3535C>T (p.Gln1179Ter) SNV Pathogenic 1031863 GRCh37: 11:108382699-108382699
GRCh38: 11:108511972-108511972
6 EXPH5 NM_015065.3(EXPH5):c.4007del (p.Asn1336fs) Deletion Pathogenic 1031864 GRCh37: 11:108382227-108382227
GRCh38: 11:108511500-108511500
7 EXPH5 NM_015065.3(EXPH5):c.2890C>T (p.His964Tyr) SNV Uncertain significance 1029346 GRCh37: 11:108383344-108383344
GRCh38: 11:108512617-108512617

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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