Details of Disease

General Information of Disease (ID: DISJRXWU)

• Disease Name: Junctional epidermolysis bullosa
• Synonyms: epidermolysis bullosa, junctional; epidermolysis bullosa hereditaria letalis; epidermolysis bullosa atrophicans; JEB; junctional epidermolysis bullosa; congenital junctional epidermolysis bullosa; EBJ
• Definition: Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
• Disease Hierarchy:
  DIS3PBSM: Inherited epidermolysis bullosa
  DISJRXWU: Junctional epidermolysis bullosa
• Disease Identifiers:
  MONDO ID: MONDO_0017612
  MESH ID: D016109
  UMLS CUI: C0079301
  MedGen ID: 86898
  Orphanet ID: 305
  SNOMED CT ID: 399971009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	TTBCOKN	Disputed	Genetic Variation	[1]
LAMB3	TT2WOUQ	Strong	Genetic Variation	[2]
LAMC2	TTNS7H3	Strong	Genetic Variation	[3]
LAMB3	TT2WOUQ	Definitive	Autosomal recessive	[4]
LAMC2	TTNS7H3	Definitive	Autosomal recessive	[4]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXPH5	OTOMXDUO	Disputed	Genetic Variation	[5]
LAMA5	OTIIXE4M	Disputed	Biomarker	[6]
PLA1A	OT2IXYNX	Disputed	Genetic Variation	[7]
ITGB4	OT28UK84	Strong	Genetic Variation	[8]
LAD1	OT6YGTVX	Strong	Altered Expression	[9]
LAMA3	OTFME7HT	Definitive	Autosomal recessive	[4]
LAMB3	OTFPU6W8	Definitive	Autosomal recessive	[4]
LAMC2	OTJMTM72	Definitive	Autosomal recessive	[4]

References

• [1] Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.J Invest Dermatol. 1999 Sep;113(3):314-21. doi: 10.1046/j.1523-1747.1999.00709.x.
• [2] Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.J Dent Res. 2019 Jun;98(6):698-704. doi: 10.1177/0022034519835205. Epub 2019 Mar 24.
• [3] Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the 3 short arm.Br J Dermatol. 2018 Jun;178(6):1416-1422. doi: 10.1111/bjd.15690. Epub 2018 Feb 22.
• [4] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [5] Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3.
• [6] Biological function of laminin-5 and pathogenic impact of its deficiency.Eur J Cell Biol. 2007 Dec;86(11-12):701-17. doi: 10.1016/j.ejcb.2006.07.004. Epub 2006 Sep 26.
• [7] Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa.Exp Dermatol. 2002 Feb;11(1):75-81. doi: 10.1034/j.1600-0625.2002.110108.x.
• [8] A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.J Pediatr. 2018 Feb;193:261-264.e1. doi: 10.1016/j.jpeds.2017.09.023. Epub 2017 Dec 1.
• [9] The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.J Invest Dermatol. 1998 Nov;111(5):887-92. doi: 10.1046/j.1523-1747.1998.00363.x.