Details of Disease | DrugMAP

General Information of Disease (ID: DIS5TSEI)

Disease Name	Ichthyosis, annular epidermolytic 1
Definition	Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.
Disease Hierarchy	DIS61JO0: Annular epidermolytic ichthyosis DIS5TSEI: Ichthyosis, annular epidermolytic 1

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	[2]
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References

1	Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet. 1999 Mar;64(3):732-8. doi: 10.1086/302278.
2	The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell. 1992 Sep 4;70(5):811-9. doi: 10.1016/0092-8674(92)90314-3.