Details of Disease | DrugMAP

General Information of Disease (ID: DISQL402)

Disease Name	Acral dystrophic epidermolysis bullosa
Synonyms	DEB-ac; DEB, acral
Definition	Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.
Disease Hierarchy	DISALMGH: Dystrophic epidermolysis bullosa DISQL402: Acral dystrophic epidermolysis bullosa
Disease Identifiers	MONDO ID MONDO_0015552 UMLS CUI C4518087 MedGen ID 1387925 Orphanet ID 158673 SNOMED CT ID 733638006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	TTBCOKN	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	OT3MIRZJ	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.