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Punctate palmoplantar keratoderma type 1
2 OMIM references -
2 associated genes
12 connected diseases
8 signs/symptoms
Disease Type of connection
Congenital stromal corneal dystrophy
Cone rod dystrophy
Distal myopathy with posterior leg and anterior hand involvement
Idiopathic CD4 lymphocytopenia
Muscle filaminopathy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Buschke-Fischer-Brauer syndrome
- Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
- PPKP1
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
AAGAB Q6PD74614888
COL14A1 Q05707120324
Very frequent
- Autosomal dominant inheritance
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer

Occasional
- Nails anomalies