Details of Disease

General Information of Disease (ID: DISCHYO2)

Disease Name IFAP syndrome
Synonyms IFAP syndrome; ichthyosis follicularis-alopecia-photophobia syndrome; ichthyosis follicularis-atrichia-photophobia syndrome
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISKGT16: Inherited ichthyosis
DISCHYO2: IFAP syndrome
Disease Identifiers
MONDO ID
MONDO_0100212
MESH ID
C536085
UMLS CUI
C1839988
MedGen ID
327007

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
MBTPS2 OT67CC7W Limited Genetic Variation [1]
------------------------------------------------------------------------------------

References

1 Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.Clin Exp Dermatol. 2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16.