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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Xeroderma pigmentosum variant

APP POLH


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Xeroderma pigmentosum variant
POLH



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Xeroderma pigmentosum variant

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- XPV

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536766

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Xeroderma pigmentosum variant

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



Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal recessive inheritance
- Excessive freckling
- Skin photosensitivity
- Telangiectasic erythema / poikiloderma
- Warts / papillomas

Frequent
- Dry / squaly skin / exfoliation
- Skin hypoplasia / aplasia / atrophy
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Telangiectasiae of the skin