Details of Disease

General Information of Disease (ID: DISN77SX)

Disease Name Pachyonychia congenita 2
Synonyms
PC2; pachyonychia congenita, Jackson-Lawler type; pachyonychia congenita, Jackson-Lawler type, formerly; pachyonychia congenita 2; pachyonychia congenita caused by mutation in KRT17; KRT17 pachyonychia congenita; pachyonychia congenita type 2
Definition Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.
Disease Hierarchy
DISW8VPN: Pachyonychia congenita
DISN77SX: Pachyonychia congenita 2
Disease Identifiers
MONDO ID
MONDO_0008174
MESH ID
D053549
UMLS CUI
C1721007
OMIM ID
167210
MedGen ID
314107

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
KRT17 TTKV0EC Limited Genetic Variation [1]
KRT17 TTKV0EC Strong Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT6B OTBXJYHY moderate Genetic Variation [3]
KRT17 OT6Y1DPK Strong Autosomal dominant [2]
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References

1 A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2.Int J Dermatol. 2013 Jan;52(1):117-9. doi: 10.1111/j.1365-4632.2010.04667.x.
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.
3 Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.J Dermatol. 2006 Mar;33(3):161-4. doi: 10.1111/j.1346-8138.2006.00037.x.