Details of Disease | DrugMAP

General Information of Disease (ID: DISKOBPU)

Disease Name	Keratosis pilaris
Synonyms	KP
Definition	A form of dry skin characterized by hair follicles plugged by scale.
Disease Hierarchy	DIS9YPUQ: Dermatological disease DISKOBPU: Keratosis pilaris
Disease Identifiers	MONDO ID MONDO_0021036 MESH ID C537412 UMLS CUI C0263383 MedGen ID 82664 HPO ID HP:0032152 SNOMED CT ID 5132005

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
COL6A3	TT5WCAH	moderate	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA12	DT7LDG0	Strong	Genetic Variation	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL6A1	OTYKSCOB	moderate	Genetic Variation	[1]
COL6A2	OTQC6PPO	moderate	Genetic Variation	[1]
COL6A5	OTJT8O80	moderate	Genetic Variation	[1]
FLG	OTE9QDV6	Strong	Genetic Variation	[3]
LAMA1	OTQZMP86	Strong	Biomarker	[4]
MBTPS2	OT67CC7W	Strong	Biomarker	[5]
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⏷ Show the Full List of 6 DOT(s)

References

1	Expression of the collagen VI 5 and 6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30.
2	Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus.Mol Med Rep. 2018 Sep;18(3):3153-3158. doi: 10.3892/mmr.2018.9342. Epub 2018 Jul 31.
3	Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency.Am J Pathol. 2015 Apr;185(4):1012-21. doi: 10.1016/j.ajpath.2014.12.012. Epub 2015 Feb 7.
4	A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23.
5	MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.Clin Exp Dermatol. 2012 Aug;37(6):631-4. doi: 10.1111/j.1365-2230.2011.04288.x.