PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: PPKN
Number of Symptoms 2
OrphanetNr:
OMIM Id: 615598
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007410) Palmoplantar hyperhidrosis 6 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nagashima-type palmoplantar keratoderma is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis, first described by Nagashima (1977) in the Japanese literature. It is characterized by well-demarcated diffuse erythematous hyperkeratosis that extends onto the dorsal surfaces of the palms and ...
Clinical Description OMIM Kabashima et al. (2008) reported a 17-year-old Japanese boy who had bilateral reddish palmoplantar hyperkeratotic lesions that extended onto the dorsum of the hands and Achilles tendon area. The lesions, which developed within the first 2 years of ...
Molecular genetics OMIM Kubo et al. (2013) performed whole-exome sequencing in 3 unrelated Japanese patients with Nagashima-type PPK, known to be negative for mutation in the SLURP1 gene (606119), and identified homozygosity or compound heterozygosity for mutations in the SERPINB7 gene ...
Population genetics OMIM Kubo et al. (2013) estimated the prevalence rate of PPKN to be 1.2/10,000 in Japanese populations and 3.1/10,000 in Chinese populations.