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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Cranio-osteoarthropathy

APP HPGD


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Cranio-osteoarthropathy
HPGD



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Cranio-osteoarthropathy

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Currarino disease
- Currarino idiopathic osteoarthropathy
- Reginato-Schiapachasse syndrome

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Cranio-osteoarthropathy

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



Very frequent
- Autosomal recessive inheritance
- Bone tumefaction / swelling
- Cortical anomaly / thick bone cortical layer
- Large fontanelle / delayed fontanelle closure
- Skull / cranial anomalies
- Thick skin / pachydermia / orange skin

Frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Hydrarthrosis / articular / joint effusion
- Knee anomalies (excluding patella)
- Osteoarthritis
- Restricted joint mobility / joint stiffness / ankylosis
- Terminal broadening / clubbing of toes
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Occasional
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Eczema