Details of Disease

General Information of Disease (ID: DIS61JO0)

Disease Name Annular epidermolytic ichthyosis
Synonyms Ciehk; epidermolytic ichthyosis, annular; ichthyosis, cyclic, with epidermolytic hyperkeratosis; AEI; ichthyosis, annular epidermolytic
Definition
Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
Disease Hierarchy
DISH7TS3: Autosomal dominant epidermolytic ichthyosis
DIS61JO0: Annular epidermolytic ichthyosis
Disease Identifiers
MONDO ID
MONDO_0011870
MESH ID
C564367
UMLS CUI
C1843463
OMIM ID
607602
MedGen ID
334410
Orphanet ID
281139
SNOMED CT ID
718631006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT1 OTIOJWA4 Strong Autosomal dominant [1]
KRT10 OTSVRD3Q Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.