Details of Disease | DrugMAP

General Information of Disease (ID: DIS4297N)

Disease Name	Keratosis follicularis spinulosa decalvans, X-linked
Synonyms	keratosis follicularis spinulosa decalvans cum ophiasi; keratosis follicularis SPINULOSA decalvans, X-linked; Kfsdx; KFSDX; keratosis follicularis Spinulosa decalvans cum Ophiasi; keratosis follicularis spinulosa decalvans; keratosis follicularis spinulosa decalvans, X-linked; keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive
Disease Hierarchy	DIS2MNKW: Keratosis follicularis spinulosa decalvans DIS4297N: Keratosis follicularis spinulosa decalvans, X-linked
Disease Identifiers	MONDO ID MONDO_0010637 MESH ID C536159 UMLS CUI C3887525 OMIM ID 308800 MedGen ID 854384

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SAT1	DEMWO83	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MBTPS2	OT67CC7W	Limited	X-linked	[2]
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References

1	Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.Clin Exp Dermatol. 2014 Mar;39(2):158-61. doi: 10.1111/ced.12248. Epub 2013 Dec 7.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.