Details of Disease | DrugMAP

General Information of Disease (ID: DISIL237)

Disease Name	IFAP syndrome 2
Synonyms	IFAP SYNDROME 2; ichthyosis , follicular, with atrichia and photophobia syndrome 2; ichthyosis follicularis, atrichia, and photophobia syndrome 2; IFAP2
Disease Hierarchy	DISCHYO2: IFAP syndrome DISIL237: IFAP syndrome 2
Disease Identifiers	MONDO ID MONDO_0100221 UMLS CUI C5436607 OMIM ID 619016 MedGen ID 1763502

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SREBF1	TTER0UB	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SREBF1	OTWBRPAI	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3.