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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Punctate palmoplantar keratoderma type 1

APP AAGAB
COL14A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
COL14A1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Punctate palmoplantar keratoderma type 1
AAGAB COL14A1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Punctate palmoplantar keratoderma type 1

Synonym(s):
- HCHWA, Arctic type

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
(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

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Punctate palmoplantar keratoderma type 1

Very frequent
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- 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