Palmoplantar keratoderma, Nagashima type

General Information (adopted from Orphanet):

Synonyms, Signs: Palmoplantar hyperkeratosis, Nagashima type
PPK, Nagashima type
Number of Symptoms 3
OrphanetNr: 140966
OMIM Id:
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive isolated diffuse palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
2
(HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
3
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: