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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
Ehlers-Danlos syndrome type 7B

APP COL1A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.52)
COL1A2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Ehlers-Danlos syndrome type 7B
COL1A2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ehlers-Danlos syndrome type 7B

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- EDS VIIB

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease

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

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

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ehlers-Danlos syndrome type 7B

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



Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Muscle weakness / flaccidity
- Short stature / dwarfism / nanism

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Herniae
- Rippled skin

Occasional
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets