Details of Disease

General Information of Disease (ID: DIS5XTFN)

Disease Name Inflammatory poikiloderma with hair abnormalities and acral keratoses
Disease Hierarchy
DISE8TL8: Hereditary poikiloderma
DIS5XTFN: Inflammatory poikiloderma with hair abnormalities and acral keratoses
Disease Identifiers
MONDO ID
MONDO_0859355
UMLS CUI
C5774293
OMIM ID
620199
MedGen ID
1824066

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
LTV1 OTZILJDI Limited Unknown [1]
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References

1 Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Hum Mol Genet. 2022 Jun 22;31(12):1970-1978. doi: 10.1093/hmg/ddab368.