EBSS
MCID: EPD052
MIFTS: 17

Epidermolysis Bullosa Simplex Superficialis (EBSS)

Categories: Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex Superficialis

MalaCards integrated aliases for Epidermolysis Bullosa Simplex Superficialis:

Name: Epidermolysis Bullosa Simplex Superficialis 57 70
Ebss 57

Classifications:



External Ids:

OMIM® 57 607600
UMLS 70 C1843477

Summaries for Epidermolysis Bullosa Simplex Superficialis

MalaCards based summary : Epidermolysis Bullosa Simplex Superficialis, also known as ebss, is related to epidermolysis bullosa dystrophica, autosomal dominant and peeling skin syndrome. An important gene associated with Epidermolysis Bullosa Simplex Superficialis is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include lung, skin and endothelial.

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 epidermolysis bullosa dystrophica, autosomal dominant 10.2
2 peeling skin syndrome 10.2
3 epidermolysis bullosa 10.2
4 epidermolysis bullosa simplex 10.2
5 small cell cancer of the lung 9.9
6 lung cancer 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 20-May-2021)

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

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex Superficialis:

40
Lung, Skin, Endothelial, Skeletal Muscle, Ovary, Pancreatic Islet, Liver

Publications for Epidermolysis Bullosa Simplex Superficialis

Articles related to Epidermolysis Bullosa Simplex Superficialis:

(show top 50) (show all 174)
# Title Authors PMID Year
1
Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. 57 61
2653224 1989
2
EB simplex superficialis resulting from a mutation in the type VII collagen gene. 57
11874498 2002
3
β-Arrestin inhibition induces autophagy, apoptosis, G0/G1 cell cycle arrest in agonist-activated V2R receptor in breast cancer cells. 61
33721131 2021
4
AMPK-dependent phosphorylation is required for transcriptional activation of TFEB and TFE3. 61
33734022 2021
5
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. 61
33618608 2021
6
TNF-induced necroptosis initiates early autophagy events via RIPK3-dependent AMPK activation, but inhibits late autophagy. 61
33779513 2021
7
The BAX-binding protein MOAP1 associates with LC3 and promotes closure of the phagophore. 61
33783314 2021
8
WNT11 is a direct target of early growth response protein 1. 61
32635983 2020
9
Regulation of FN1 degradation by the p62/SQSTM1-dependent autophagy-lysosome pathway in HNSCC. 61
33318468 2020
10
Human enteroviral infection impairs autophagy in clonal INS(832/13) cells and human pancreatic islet cells. 61
32676816 2020
11
Autophagy modulates mesenchymal-to-endothelial transition via p53. 61
33186920 2020
12
PTPN9-mediated dephosphorylation of VTI1B promotes ATG16L1 precursor fusion and autophagosome formation. 61
33112705 2020
13
STYK1 promotes autophagy through enhancing the assembly of autophagy-specific class III phosphatidylinositol 3-kinase complex I. 61
31696776 2020
14
TSPAN1 promotes autophagy flux and mediates cooperation between WNT-CTNNB1 signaling and autophagy via the MIR454-FAM83A-TSPAN1 axis in pancreatic cancer. 61
32972302 2020
15
CASP9 (caspase 9) is essential for autophagosome maturation through regulation of mitochondrial homeostasis. 61
31818185 2020
16
Differential regulation of autophagy during metabolic stress in astrocytes and neurons. 61
31876243 2020
17
The DNA methyltransferase DNMT3A contributes to autophagy long-term memory. 61
32876528 2020
18
Oxidation of multiple MiT/TFE transcription factors links oxidative stress to transcriptional control of autophagy and lysosome biogenesis. 61
31826695 2020
19
RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein. 61
32960676 2020
20
WW and C2 domain-containing protein-3 promoted EBSS-induced apoptosis through inhibiting autophagy in non-small cell lung cancer cells. 61
32944332 2020
21
PtdIns4P restriction by hydrolase SAC1 decides specific fusion of autophagosomes with lysosomes. 61
32693712 2020
22
MIR106A-5p upregulation suppresses autophagy and accelerates malignant phenotype in nasopharyngeal carcinoma. 61
32627648 2020
23
Autophagy-dependent cancer cells circumvent loss of the upstream regulator RB1CC1/FIP200 and loss of LC3 conjugation by similar mechanisms. 61
32160093 2020
24
The unfolded protein response regulates hepatic autophagy by sXBP1-mediated activation of TFEB. 61
32597296 2020
25
A fine-tuning mechanism underlying self-control for autophagy: deSUMOylation of BECN1 by SENP3. 61
31373534 2020
26
PKD2/polycystin-2 induces autophagy by forming a complex with BECN1. 61
32543276 2020
27
LUBAC and OTULIN regulate autophagy initiation and maturation by mediating the linear ubiquitination and the stabilization of ATG13. 61
32543267 2020
28
High-throughput screening of functional deubiquitinating enzymes in autophagy. 61
32453962 2020
29
BHRF1, a BCL2 viral homolog, disturbs mitochondrial dynamics and stimulates mitophagy to dampen type I IFN induction. 61
32401605 2020
30
An integrative multi-omics approach uncovers the regulatory role of CDK7 and CDK4 in autophagy activation induced by silica nanoparticles. 61
32397800 2020
31
GABARAPs and LC3s have opposite roles in regulating ULK1 for autophagy induction. 61
31208283 2020
32
SNX10 (sorting nexin 10) inhibits colorectal cancer initiation and progression by controlling autophagic degradation of SRC. 61
31208298 2020
33
MAPT/Tau accumulation represses autophagy flux by disrupting IST1-regulated ESCRT-III complex formation: a vicious cycle in Alzheimer neurodegeneration. 61
31223056 2020
34
Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome. 61
31142229 2020
35
LRRK2 mutations impair depolarization-induced mitophagy through inhibition of mitochondrial accumulation of RAB10. 61
30945962 2020
36
Monitoring the autophagy-endolysosomal system using monomeric Keima-fused MAP1LC3B. 61
32511278 2020
37
Investigating AKT activation and autophagy in immunoproteasome-deficient retinal cells. 61
32275682 2020
38
The pro-inflammatory effect of NR4A3 in osteoarthritis. 61
31701670 2020
39
GORASP2/GRASP55 collaborates with the PtdIns3K UVRAG complex to facilitate autophagosome-lysosome fusion. 61
30894053 2019
40
RAB2 regulates the formation of autophagosome and autolysosome in mammalian cells. 61
30957628 2019
41
Mitochondrial respiratory chain deficiency inhibits lysosomal hydrolysis. 61
30917721 2019
42
Acetylation of BmAtg8 inhibits starvation-induced autophagy initiation. 61
30877510 2019
43
Ubiquitination of UVRAG by SMURF1 promotes autophagosome maturation and inhibits hepatocellular carcinoma growth. 61
30686098 2019
44
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle. 61
30654731 2019
45
Activated CRH receptors inhibit autophagy by repressing conversion of LC3BI to LC3BII. 61
30849520 2019
46
Starvation-induced autophagy is up-regulated via ROS-mediated ClC-3 chloride channel activation in the nasopharyngeal carcinoma cell line CNE-2Z. 61
30992317 2019
47
Identification of compound CA-5f as a novel late-stage autophagy inhibitor with potent anti-tumor effect against non-small cell lung cancer. 61
30145925 2019
48
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis. 61
30081747 2019
49
Endogenous leptin promotes autophagy in EBSS-induced PFCs. 61
31700697 2019
50
Silkworm Storage Protein 1 Inhibits Autophagy-Mediated Apoptosis. 61
30646576 2019

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

3 CDC
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11 DGIdb
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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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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