PACHYONYCHIA CONGENITA 2

General Information (adopted from Orphanet):

Synonyms, Signs: PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE
PC2
Number of Symptoms 19
OrphanetNr:
OMIM Id: 167210
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:0000695) Natal tooth 42 / 7739
2
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
3
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow 117 / 7739
4
(HPO:0002209) Sparse scalp hair 59 / 7739
5
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
6
(HPO:0002164) Nail dysplasia 82 / 7739
7
(HPO:0200040) Epidermoid cyst 35 / 7739
8
(HPO:0007410) Palmoplantar hyperhidrosis 6 / 7739
9
(HPO:0008404) Nail dystrophy 89 / 7739
10
(HPO:0012035) Steatocystoma multiplex 9618173 IBIS 4 / 7739
11
(HPO:0011359) Dry hair 16 / 7739
12
(HPO:0008392) Subungual hyperkeratosis 6 / 7739
13
(HPO:0001609) Hoarse voice 34 / 7739
14
(OMIM) Dry, sparse scalp hair 1 / 7739
15
(MedDRA:10016936) Folliculitis 5 / 7739
16
(HPO:0001425) Heterogeneous 132 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) No oral leukoplakia 2 / 7739
19
(OMIM) Subungual keratosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC1, the Jadassohn-Lewandowski syndrome (167200), shows oral leukokeratosis. PC2, the form of Jackson and Lawler (1951-52), has natal teeth and epidermoid cysts ...
Molecular genetics OMIM In affected members of a family segregating PC2, Smith et al. (1998) identified heterozygosity for a mutation in the KRT6B gene (148042.0001).

Terrinoni et al. (2001) studied 13 patients with PC1 or PC2 and found mutations ...