Punctate palmoplantar keratoderma type 1

General Information (adopted from Orphanet):

Synonyms, Signs: PPKP1
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
Buschke-Fischer-Brauer syndrome
Number of Symptoms 11
OrphanetNr: 79501
OMIM Id: 148600
614936
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated punctate palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0009726) Renal neoplasm Frequent [Orphanet] 20 / 7739
2
 (HPO:0100013) Neoplasm of the breast Frequent [Orphanet] 18 / 7739
3
 (HPO:0002894) Neoplasm of the pancreas Frequent [Orphanet] 17 / 7739
4
 (HPO:0100273) Neoplasm of the colon Frequent [Orphanet] 18 / 7739
5
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
6
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
7
 (HPO:0000951) Abnormality of the skin 147 / 7739
8
 (HPO:0002665) Lymphoma Frequent [Orphanet] 60 / 7739
9
 (HPO:0001425) Heterogeneous 132 / 7739
10
 (HPO:0003584) Late onset 10 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: