Details of Disease | DrugMAP

General Information of Disease (ID: DISD96XN)

Disease Name	Keratosis pilaris atrophicans
Synonyms	folliculitis ulerythematosa reticulata; honeycomb atrophy; KPA; keratosis pilaris; Atrophodermia reticulata; amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2; ulerythema ophryogenesis; burnett Schwartz Berberian syndrome; Atrophodermia reticulata symmetrica faciei; Atrophodermia vermiculata; ulerythema ophryogenes; keratosis pilaris atrophicans facies; folliculitis ulerythematosa; ulerythema ophryogenes with multiple congenital anomalies; keratosis pilaris atrophicans
Definition	An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.
Disease Hierarchy	DISIDQ39: Epidermal disease DISKOBPU: Keratosis pilaris DISSCALK: Hereditary skin disorder DISD96XN: Keratosis pilaris atrophicans
Disease Identifiers	MONDO ID MONDO_0018855 MESH ID C537412 UMLS CUI C0263428 OMIM ID 604093 MedGen ID 75520 Orphanet ID 498 SNOMED CT ID 400059005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP1	TT9JAGO	Limited	Unknown	[1]
LRP1	TTF2V7I	Strong	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP1	OTHTEH4G	Limited	Unknown	[1]
CHD8	OTS7A6AF	moderate	Genetic Variation	[2]
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References

1	Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet. 2015 Sep;52(9):599-606. doi: 10.1136/jmedgenet-2014-102931. Epub 2015 Jul 3.
2	Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.Clin Chem. 2018 Apr;64(4):715-725. doi: 10.1373/clinchem.2017.281220. Epub 2018 Mar 15.