PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC

General Information (adopted from Orphanet):

Synonyms, Signs: KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR
TYLOSIS
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA
NEPPK
Number of Symptoms 12
OrphanetNr:
OMIM Id: 600962
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007404) Nonepidermolytic palmoplantar keratoderma 1 / 7739
2
(OMIM) Deep fissures of skin creases 1 / 7739
3
(OMIM) Smooth, waxy, thick skin over palms and soles, desquamating in large flakes 1 / 7739
4
(OMIM) Hyperkeratosis of stratum corneum 3 / 7739
5
(OMIM) No abnormal keratohyalin granules 1 / 7739
6
(OMIM) No cytolysis 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Hyperkeratosis of skin at nipples and umbilicus 1 / 7739
9
(OMIM) Skin over joint surfaces of hands and feet is thick, red, and edematous 1 / 7739
10
(OMIM) Well-defined erythematous border 1 / 7739
11
(OMIM) No large keratohyalin granules 2 / 7739
12
(OMIM) No aggregated tonofilaments 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rogaev et al. (1993) studied a large 5-generation Uzbek pedigree segregating autosomal dominant nonepidermolytic palmoplantar keratoderma. Affected individuals had thick, white, smooth skin that desquamated in large flakes on the palmar surfaces of the hands and the soles ...
Genotype-Phenotype Correlations OMIM Both epidermolytic and nonepidermolytic forms of palmoplantar keratoderma have been observed with various mutations in the KRT1 gene (139350). Kimonis et al. (1994) suggested that the specific region of the keratin protein affected by mutation might be a ...
Molecular genetics OMIM In a 4-generation family with nonepidermolytic PPK mapping to chromosome 12q11-q13, Kimonis et al. (1994) identified a missense mutation in the KRT1 gene (K73I; 139350.0004) that segregated completely with the disease and was not found in 50 unrelated ...