PACHYONYCHIA CONGENITA 1

General Information (adopted from Orphanet):

Synonyms, Signs: JADASSOHN-LEWANDOWSKY SYNDROME PACHYONYCHIA CONGENITA TARDA, TYPE 1, INCLUDED
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
PC1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 167200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
2
(HPO:0001805) Thick nail 96 / 7739
3
(HPO:0007502) Follicular hyperkeratosis 12 / 7739
4
(OMIM) Oral leukokeratosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pachyonychia congenita is characterized by onychogryposis, hyperkeratosis of the palms, soles, knees and elbows, tiny cutaneous horns in many areas, and leukoplakia of the oral mucous membranes. Hyperhidrosis of the hands and feet is usually present. Murray (1921) ...
Molecular genetics OMIM In a sporadic case of pachyonychia congenita type 1, Smith et al. (1999) identified heterozygosity for a 3-bp deletion (148067.0001) in the KRT16 gene.

In affected members of a Slovenian family segregating PC1, Bowden et al. ...