Details of Disease

General Information of Disease (ID: DIS0AY06)

Disease Name Pachyonychia congenita 4
Synonyms PC4; KRT6B pachyonychia congenita; pachyonychia congenita 4; pachyonychia congenita caused by mutation in KRT6B; pachyonychia congenita type 4
Definition Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.
Disease Hierarchy
DISW8VPN: Pachyonychia congenita
DIS0AY06: Pachyonychia congenita 4
Disease Identifiers
MONDO ID
MONDO_0014325
UMLS CUI
C3714949
OMIM ID
615728
MedGen ID
811524

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT6B OTBXJYHY Strong Autosomal dominant [1]
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References

1 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.