EBSS
MCID: EPD052
MIFTS: 17

Epidermolysis Bullosa Simplex Superficialis (EBSS)

Categories: Skin diseases
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Aliases & Classifications for Epidermolysis Bullosa Simplex Superficialis

MalaCards integrated aliases for Epidermolysis Bullosa Simplex Superficialis:

Name: Epidermolysis Bullosa Simplex Superficialis 57 71
Ebss 57

Classifications:



External Ids:

OMIM® 57 607600
UMLS 71 C1843477

Summaries for Epidermolysis Bullosa Simplex Superficialis

MalaCards based summary: Epidermolysis Bullosa Simplex Superficialis, also known as ebss, is related to transient bullous dermolysis of the newborn and epidermolysis bullosa dystrophica, autosomal dominant. An important gene associated with Epidermolysis Bullosa Simplex Superficialis is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include pancreatic islet, lung and breast.

More information from OMIM: 607600

Related Diseases for Epidermolysis Bullosa Simplex Superficialis

Diseases related to Epidermolysis Bullosa Simplex Superficialis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 transient bullous dermolysis of the newborn 10.2
2 epidermolysis bullosa dystrophica, autosomal dominant 10.2
3 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
4 peeling skin syndrome 10.2
5 epidermolysis bullosa 10.2
6 epidermolysis bullosa simplex 10.2
7 small cell cancer of the lung 9.9
8 lung cancer 9.9
9 leptin deficiency or dysfunction 9.9

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex Superficialis:



Diseases related to Epidermolysis Bullosa Simplex Superficialis

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex Superficialis

Clinical features from OMIM®:

607600 (Updated 24-Oct-2022)

Drugs & Therapeutics for Epidermolysis Bullosa Simplex Superficialis

Search Clinical Trials, NIH Clinical Center for Epidermolysis Bullosa Simplex Superficialis

Genetic Tests for Epidermolysis Bullosa Simplex Superficialis

Anatomical Context for Epidermolysis Bullosa Simplex Superficialis

Organs/tissues related to Epidermolysis Bullosa Simplex Superficialis:

MalaCards : Pancreatic Islet, Lung, Breast, Skeletal Muscle, Liver, Skin, Endothelial

Publications for Epidermolysis Bullosa Simplex Superficialis

Articles related to Epidermolysis Bullosa Simplex Superficialis:

(show top 50) (show all 201)
# Title Authors PMID Year
1
Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. 62 57
2653224 1989
2
EB simplex superficialis resulting from a mutation in the type VII collagen gene. 57
11874498 2002
3
Chaperone-mediated autophagy attenuates H2 O2 -induced cardiomyocyte apoptosis by targeting poly (ADP-ribose) polymerase 1 (PARP1) for lysosomal degradation. 62
35924992 2022
4
Development of new tools to study membrane-anchored mammalian Atg8 proteins. 62
36250672 2022
5
The FACT complex facilitates expression of lysosomal and antioxidant genes through binding to TFEB and TFE3. 62
35230915 2022
6
Exploring Use Acceptance of Electric Bicycle-Sharing Systems: An Empirical Study Based on PLS-SEM Analysis. 62
36146406 2022
7
Protein arginine methyltransferases 5 (PRMT5) affect multiple stages of autophagy and modulate autophagy-related genes in controlling breast cancer tumorigenesis. 62
36154574 2022
8
AP2M1 mediates autophagy-induced CLDN2 (claudin 2) degradation through endocytosis and interaction with LC3 and reduces intestinal epithelial tight junction permeability. 62
34964704 2022
9
Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway. 62
35965317 2022
10
CDK9 inhibition blocks the initiation of PINK1-PRKN-mediated mitophagy by regulating the SIRT1-FOXO3-BNIP3 axis and enhances the therapeutic effects involving mitochondrial dysfunction in hepatocellular carcinoma. 62
34890308 2022
11
Measuring Evidence-Based Treatment Strategies in Youth Community Mental Health Care: the Evidence-Based Strategies Scale. 62
35000101 2022
12
SHISA5/SCOTIN restrains spontaneous autophagy induction by blocking contact between the ERES and phagophores. 62
34720018 2022
13
Autophagy profiling in single cells with open source CellProfiler-based image analysis. 62
35435815 2022
14
MEF2D-NR4A1-FAM134B2-mediated reticulophagy contributes to amino acid homeostasis. 62
34517786 2022
15
Construction of PIK3C3 Transgenic Pig and Its Pathogenesis of Liver Damage. 62
35629298 2022
16
Acetylation of SCFD1 regulates SNARE complex formation and autophagosome-lysosome fusion. 62
35465820 2022
17
Autophagy-associated circRNA circATG7 facilitates autophagy and promotes pancreatic cancer progression. 62
35288538 2022
18
Effect of human hydrosalpinx fluid in fertilization rate of mouse oocyte and embryo quality. 62
35257559 2022
19
Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression. 62
35253629 2022
20
A mixed-method evaluation of the adoption and implementation of the College Alcohol Intervention Matrix among prevention experts: a study protocol. 62
34930498 2021
21
TNF-induced necroptosis initiates early autophagy events via RIPK3-dependent AMPK activation, but inhibits late autophagy. 62
33779513 2021
22
AMPK-dependent phosphorylation is required for transcriptional activation of TFEB and TFE3. 62
33734022 2021
23
Development of an In Vitro Chloroplast Splicing System: Sequences Required for Correct pre-mRNA Splicing. 62
34180531 2021
24
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. 62
33618608 2021
25
The BAX-binding protein MOAP1 associates with LC3 and promotes closure of the phagophore. 62
33783314 2021
26
TSPAN1 promotes autophagy flux and mediates cooperation between WNT-CTNNB1 signaling and autophagy via the MIR454-FAM83A-TSPAN1 axis in pancreatic cancer. 62
32972302 2021
27
Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion. 62
34616129 2021
28
PTPN9-mediated dephosphorylation of VTI1B promotes ATG16L1 precursor fusion and autophagosome formation. 62
33112705 2021
29
RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein. 62
32960676 2021
30
Autophagy promotes invadopodia formation in human ovarian cancer cells via the p62-extracellular signal-regulated kinase 1/2 pathway. 62
34335894 2021
31
PCV2 targets cGAS to inhibit type I interferon induction to promote other DNA virus infection. 62
34543359 2021
32
The unfolded protein response regulates hepatic autophagy by sXBP1-mediated activation of TFEB. 62
32597296 2021
33
PtdIns4P restriction by hydrolase SAC1 decides specific fusion of autophagosomes with lysosomes. 62
32693712 2021
34
ADAMTS-1: a novel target gene of an estrogen-induced transcription factor, EGR1, critical for embryo implantation in the mouse uterus. 62
34348778 2021
35
LUBAC and OTULIN regulate autophagy initiation and maturation by mediating the linear ubiquitination and the stabilization of ATG13. 62
32543267 2021
36
MIR106A-5p upregulation suppresses autophagy and accelerates malignant phenotype in nasopharyngeal carcinoma. 62
32627648 2021
37
PKD2/polycystin-2 induces autophagy by forming a complex with BECN1. 62
32543276 2021
38
High-throughput screening of functional deubiquitinating enzymes in autophagy. 62
32453962 2021
39
BHRF1, a BCL2 viral homolog, disturbs mitochondrial dynamics and stimulates mitophagy to dampen type I IFN induction. 62
32401605 2021
40
An integrative multi-omics approach uncovers the regulatory role of CDK7 and CDK4 in autophagy activation induced by silica nanoparticles. 62
32397800 2021
41
The DNA methyltransferase DNMT3A contributes to autophagy long-term memory. 62
32876528 2021
42
β-Arrestin inhibition induces autophagy, apoptosis, G0/G1 cell cycle arrest in agonist-activated V2R receptor in breast cancer cells. 62
33721131 2021
43
Intermittent Starvation Promotes Maturation of Human Embryonic Stem Cell-Derived Cardiomyocytes. 62
34395420 2021
44
TEOA Promotes Autophagic Cell Death via ROS-Mediated Inhibition of mTOR/p70S6k Signaling Pathway in Pancreatic Cancer Cells. 62
34692691 2021
45
Regulation of FN1 degradation by the p62/SQSTM1-dependent autophagy-lysosome pathway in HNSCC. 62
33318468 2020
46
WNT11 is a direct target of early growth response protein 1. 62
32635983 2020
47
Autophagy modulates mesenchymal-to-endothelial transition via p53. 62
33186920 2020
48
Human enteroviral infection impairs autophagy in clonal INS(832/13) cells and human pancreatic islet cells. 62
32676816 2020
49
STYK1 promotes autophagy through enhancing the assembly of autophagy-specific class III phosphatidylinositol 3-kinase complex I. 62
31696776 2020
50
Oxidation of multiple MiT/TFE transcription factors links oxidative stress to transcriptional control of autophagy and lysosome biogenesis. 62
31826695 2020

Variations for Epidermolysis Bullosa Simplex Superficialis

Expression for Epidermolysis Bullosa Simplex Superficialis

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex Superficialis.

Pathways for Epidermolysis Bullosa Simplex Superficialis

GO Terms for Epidermolysis Bullosa Simplex Superficialis

Sources for Epidermolysis Bullosa Simplex Superficialis

2 CDC
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
52 NINDS
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55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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