Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

General Information (adopted from Orphanet):

Synonyms, Signs: PPKNR
Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
PPK, Gamborg-Nielsen type
Number of Symptoms 5
OrphanetNr: 86923
OMIM Id: 244850
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
2
(HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
3
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
4
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a study of palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten), Gamborg Nielsen (1985) observed a seemingly recessive and unusually severe form that differed from the picture of mal de Meleda (248300) in 6 patients from ...