Details of Disease

General Information of Disease (ID: DISW8VPN)

Disease Name Pachyonychia congenita
Synonyms
pachyonychia congenita syndrome; congenital pachyonychia; pachyonychia congenita type 1; pachyonychia congenita, Jadassohn-Lewandowsky type; Jackson-Lawler type pachyonychia congenita; PC; Jadassohn-Lewandowsky syndrome
Definition Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
Disease Hierarchy
DISGLKBI: Focal palmoplantar keratoderma
DISW8VPN: Pachyonychia congenita
Disease Identifiers
MONDO ID
MONDO_0016471
MESH ID
D053549
UMLS CUI
C0265334
MedGen ID
78556
Orphanet ID
2309
SNOMED CT ID
39427000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KLKB1 TTN0PCX Limited Biomarker [1]
KRT17 TTKV0EC Supportive Autosomal dominant [2]
KRT6A TT2FX8W Supportive Autosomal dominant [2]
KRT17 TTKV0EC moderate Genetic Variation [3]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT6C OT9RXMPK Limited Genetic Variation [3]
KRT9 OTA10UCH Limited Biomarker [1]
KRT16 OTGA0EQN Supportive Autosomal dominant [2]
KRT17 OT6Y1DPK Supportive Autosomal dominant [2]
KRT6A OT392M5T Supportive Autosomal dominant [2]
KRT6B OTBXJYHY Supportive Autosomal dominant [2]
KRT10 OTSVRD3Q Strong Biomarker [4]
KRT80 OTAU54U3 Definitive Biomarker [5]
PNOC OTJEAADN Definitive Altered Expression [6]
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⏷ Show the Full List of 9 DOT(s)

References

1 JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins.J Dermatol Sci. 1996 Dec;13(3):181-92. doi: 10.1016/s0923-1811(96)00568-3.
2 Pachyonychia Congenita. 2006 Jan 27 [updated 2017 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3 Revisiting pachyonychia congenita: a case-cohort study of 815 patients.Br J Dermatol. 2020 Mar;182(3):738-746. doi: 10.1111/bjd.18794. Epub 2020 Jan 14.
4 Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10.Br J Dermatol. 2015 Jul;173(1):293-6. doi: 10.1111/bjd.13616. Epub 2015 May 24.
5 Mutation of a type II keratin gene (K6a) in pachyonychia congenita.Nat Genet. 1995 Jul;10(3):363-5. doi: 10.1038/ng0795-363.
6 Nociceptin/orphanin FQ opioid peptide-receptor expression in pachyonychia congenita.J Peripher Nerv Syst. 2018 Dec;23(4):241-248. doi: 10.1111/jns.12288. Epub 2018 Oct 16.