Details of Disease

General Information of Disease (ID: DISSD3MX)

• Disease Name: Generalized junctional epidermolysis bullosa non-Herlitz type
• Synonyms: junctional epidermolysis bullosa, generalised intermediate; junctional epidermolysis bullosa non-Herlitz type; junctional epidermolysis bullosa, generalized intermediate; JEB-nH gen; GABEB; JEB, generalized intermediate; generalized atrophic benign epidermolysis bullosa; generalised junctional epidermolysis bullosa, non-Herlitz type; generalised atrophic benign epidermolysis bullosa; junctional epidermolysis bullosa generalisata mitis; generalized junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Disentis type; JEB, generalised intermediate
• Definition: Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
• Disease Hierarchy:
  DISQM23S: Junctional epidermolysis bullosa, non-Herlitz type
  DISSD3MX: Generalized junctional epidermolysis bullosa non-Herlitz type
• Disease Identifiers:
  MONDO ID: MONDO_0019307
  UMLS CUI: C0432326
  MedGen ID: 609458
  Orphanet ID: 79402
  SNOMED CT ID: 254196004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LAMB3	TT2WOUQ	Supportive	Autosomal recessive	[1]
LAMC2	TTNS7H3	Supportive	Autosomal recessive	[1]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL17A1	OTID5AH2	Supportive	Autosomal recessive	[1]
ITGB4	OT28UK84	Supportive	Autosomal recessive	[2]
LAMA3	OTFME7HT	Supportive	Autosomal recessive	[1]
LAMB3	OTFPU6W8	Supportive	Autosomal recessive	[1]
LAMC2	OTJMTM72	Supportive	Autosomal recessive	[1]

References

• [1] Junctional Epidermolysis Bullosa. 2008 Feb 22 [updated 2018 Dec 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?. J Invest Dermatol. 2000 May;114(5):1061-4. doi: 10.1046/j.1523-1747.2000.00960-3.x.