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2 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Punctate palmoplantar keratoderma type 1
Idiopathic CD4 lymphocytopenia

AAGAB UNC119
COL14A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AAGAB
(0.63)
UNC119



Citations in the biomedical literature:


Punctate palmoplantar keratoderma type 1
AAGAB COL14A1
Idiopathic CD4 lymphocytopenia
UNC119



Punctate palmoplantar keratoderma type 1
Idiopathic CD4 lymphocytopenia

Synonym(s):
- Buschke-Fischer-Brauer syndrome
- Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
- PPKP1

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Punctate palmoplantar keratoderma type 1

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


Idiopathic CD4 lymphocytopenia

(no data available)