ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Cranio-osteoarthropathy

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


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

Citations in the biomedical literature:

Cranio-osteoarthropathy		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - Currarino disease - Currarino idiopathic osteoarthropathy - Reginato-Schiapachasse syndrome		Synonym(s): - HCHWA, Piedmont type

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

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

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

Cranio-osteoarthropathy		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	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		Very frequent - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality