General Information of Disease (ID: DISD08MT)

Disease Name Ichthyosis hystrix
Disease Hierarchy
DISKGT16: Inherited ichthyosis
DISD08MT: Ichthyosis hystrix
Disease Identifiers
MONDO ID
MONDO_0859383
UMLS CUI
C0263580
MedGen ID
75527
SNOMED CT ID
67510007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT1 OTIOJWA4 Limited Genetic Variation [1]
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References

1 A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.J Invest Dermatol. 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025.