Details of Disease

General Information of Disease (ID: DISLWEDU)

Disease Name Trichilemmal cyst
Synonyms TRICY1; Pilar cyst; Tricholemmal cyst; trichilemmal cyst 1
Disease Hierarchy
DISYKSRF: Genetic disease
DISLWEDU: Trichilemmal cyst
Disease Identifiers
MONDO ID
MONDO_0012328
UMLS CUI
C2266788
MedGen ID
389216
HPO ID
HP:0025246
SNOMED CT ID
254677004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BPIFC OTBMBD7I Limited Autosomal dominant [1]
CASP14 OTKY93H9 Strong Biomarker [2]
PLCD1 OT6WFVXZ Strong Biomarker [3]
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References

1 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.
2 Comparative immunohistochemical analyses on the modes of cell death/keratinization in epidermal cyst, trichilemmal cyst, and pilomatricoma.Am J Dermatopathol. 2011 Feb;33(1):78-83. doi: 10.1097/DAD.0b013e3181e3aec1.
3 A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.J Invest Dermatol. 2019 Oct;139(10):2154-2163.e5. doi: 10.1016/j.jid.2019.04.015. Epub 2019 May 11.