Details of Disease | DrugMAP

General Information of Disease (ID: DISO2ZM9)

Disease Name	Pachyonychia congenita 1
Synonyms	PC1; pachyonychia congenita, Jadassohn-Lewandowsky type, formerly; pachyonychia congenita, Jadassohn-Lewandowsky type; Jadassohn-Lewandowsky syndrome, formerly; Jadassohn-Lewandowsky syndrome; pachyonychia congenita 1; pachyonychia congenita caused by mutation in KRT16; pachyonychia congenita type 1; KRT16 pachyonychia congenita
Definition	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.
Disease Hierarchy	DISW8VPN: Pachyonychia congenita DISO2ZM9: Pachyonychia congenita 1
Disease Identifiers	MONDO ID MONDO_0008173 MESH ID D053549 UMLS CUI C1706595 OMIM ID 167200 MedGen ID 353335

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
KRT6A	TT2FX8W	Strong	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT16	OTGA0EQN	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.