Details of Disease

General Information of Disease (ID: DISVOPLZ)

• Disease Name: Recessive dystrophic epidermolysis bullosa
• Synonyms: epidermolysis bullosa dystrophica, autosomal recessive; epidermolysis bullosa dystrophica, generalised severe, autosomal recessive; recessive dystrophic epidermolysis bullosa, severe generalised; epidermolysis bullosa dystrophica, Hallopeau-Siemens type; RDEB, severe generalised; epidermolysis bullosa dystrophica inversa, autosomal recessive; dystrophic epidermolysis bullosa, autosomal recessive; epidermolysis bullosa dystrophica, generalized severe, autosomal recessive; RDEB, severe generalized; RDEB; recessive dystrophic epidermolysis bullosa, severe generalized; epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant; autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); severe generalised recessive dystrophic epidermolysis bullosa; severe generalized RDEB; severe generalized recessive dystrophic epidermolysis bullosa; severe generalised RDEB; epidermolysis bullosa dystrophica, autosomal recessive, modifier of; RDEB generalisata gravis; EBD inversa; autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; epidermolysis bullosa dystrophica, AR; RDEB, Hallopeau-Siemens type; RDEB-sev gen
• Definition: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
• Disease Hierarchy:
  DISALMGH: Dystrophic epidermolysis bullosa
  DISVOPLZ: Recessive dystrophic epidermolysis bullosa
• Disease Identifiers:
  MONDO ID: MONDO_0009179
  MESH ID: D016108
  UMLS CUI: C0079474
  OMIM ID: 226600
  MedGen ID: 36311
  Orphanet ID: 79408
  SNOMED CT ID: 48528004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MMP1	TTMX39J	Limited	Genetic Variation	[1]
SLCO1B3	TTU86P0	Limited	Altered Expression	[2]
COL7A1	TTBCOKN	Definitive	Autosomal recessive	[3]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB5	DTKVEXO	Strong	Biomarker	[4]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIP1	OT958HK1	moderate	Biomarker	[5]
COCH	OTBEHD89	Strong	Genetic Variation	[6]
COL7A1	OT3MIRZJ	Definitive	Autosomal recessive	[3]

References

• [1] An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients.Int J Dermatol. 2014 Aug;53(8):985-90. doi: 10.1111/ijd.12499. Epub 2014 Jun 5.
• [2] Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.J Cell Sci. 2014 Feb 15;127(Pt 4):740-51. doi: 10.1242/jcs.128454. Epub 2013 Dec 19.
• [3] 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.
• [4] Rapid generation of Col7a1(-/-) mouse model of recessive dystrophic epidermolysis bullosa and partial rescue via immunosuppressive dermal mesenchymal stem cells.Lab Invest. 2017 Oct;97(10):1218-1224. doi: 10.1038/labinvest.2017.85. Epub 2017 Sep 11.
• [5] Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1.Proc Natl Acad Sci U S A. 2002 May 14;99(10):6816-21. doi: 10.1073/pnas.092130099. Epub 2002 Apr 30.
• [6] Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E705-E714. doi: 10.1073/pnas.1709111115. Epub 2018 Jan 5.