Details of Disease

General Information of Disease (ID: DIS2CZ6X)

Disease Name Epidermolysis bullosa simplex
Synonyms epidermolysis bullosa intraepidermic; EBS; EEB; epidermolysis bullosa simplex
Definition
Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
Disease Hierarchy
DIS3PBSM: Inherited epidermolysis bullosa
DIS2CZ6X: Epidermolysis bullosa simplex
Disease Identifiers
MONDO ID
MONDO_0017610
MESH ID
D016110
UMLS CUI
C0079298
MedGen ID
86896
Orphanet ID
304
SNOMED CT ID
67144006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BHLHE23 OTLSVD17 Limited Genetic Variation [1]
CPSF4 OT53UK5L Limited Genetic Variation [2]
IVL OT4VPNGY Limited Altered Expression [3]
KLHL24 OTWZSX5C Limited Genetic Variation [4]
KRT10 OTSVRD3Q Limited Genetic Variation [5]
KRT14 OTUVZ1DW Limited Genetic Variation [6]
KRT9 OTA10UCH Limited Genetic Variation [7]
NAT9 OT4ZKCRS Limited Genetic Variation [8]
PLOD3 OTT00T7Q Limited Genetic Variation [9]
COL17A1 OTID5AH2 moderate Genetic Variation [10]
DST OTHZBM4X Strong Genetic Variation [11]
EXPH5 OTOMXDUO Strong Biomarker [12]
KRT1 OTIOJWA4 Strong Genetic Variation [13]
PLEC OTU4XDEG Strong Biomarker [14]
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⏷ Show the Full List of 14 DOT(s)

References

1 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.J Invest Dermatol. 2002 Dec;119(6):1275-81. doi: 10.1046/j.1523-1747.2002.19609.x.
2 Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.Br J Dermatol. 2003 Jul;149(1):46-58. doi: 10.1046/j.1365-2133.2003.05493.x.
3 Recessive dystrophic epidermolysis bullosa skin displays a chronic growth-activated immunophenotype. Implications for carcinogenesis.Arch Dermatol. 1990 Jan;126(1):78-83.
4 KLHL24: Beyond Skin Fragility.J Invest Dermatol. 2019 Jan;139(1):22-24. doi: 10.1016/j.jid.2018.08.010.
5 Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174.
6 Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".Matrix Biol. 2019 Oct;83:48-59. doi: 10.1016/j.matbio.2019.07.002. Epub 2019 Jul 11.
7 JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins.J Dermatol Sci. 1996 Dec;13(3):181-92. doi: 10.1016/s0923-1811(96)00568-3.
8 Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.Pediatr Dermatol. 2013 Nov-Dec;30(6):e125-31. doi: 10.1111/j.1525-1470.2012.01748.x. Epub 2012 May 29.
9 Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.J Biol Chem. 2009 Oct 9;284(41):28204-28211. doi: 10.1074/jbc.M109.038190. Epub 2009 Aug 20.
10 Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.Br J Dermatol. 2004 Sep;151(3):669-74. doi: 10.1111/j.1365-2133.2004.06041.x.
11 Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.Am J Med Genet A. 2017 Oct;173(10):2743-2746. doi: 10.1002/ajmg.a.38367. Epub 2017 Aug 2.
12 A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.Clin Exp Dermatol. 2016 Dec;41(8):915-918. doi: 10.1111/ced.12908. Epub 2016 Oct 11.
13 Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.J Invest Dermatol. 2003 Apr;120(4):623-6. doi: 10.1046/j.1523-1747.2003.12084.x.
14 Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Jun;136(3):203-205. doi: 10.1016/j.anorl.2019.02.009. Epub 2019 Mar 15.