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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Growth delay due to insulin-like growth factor I resistance

APP IGF1R


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
IGF1R



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Growth delay due to insulin-like growth factor I resistance
IGF1R



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Growth delay due to insulin-like growth factor I resistance

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Resistance to IGF-1

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Growth delay due to insulin-like growth factor I resistance

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



Very frequent
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Intrauterine growth retardation
- Short stature / dwarfism / nanism

Frequent
- Abnormally placed nipples
- Broad nasal root
- Everted lower lip
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Pectus excavatum
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Thin / retracted lips