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Cranio-osteoarthropathy
1 OMIM reference -
1 associated gene
9 connected diseases
16 signs/symptoms
Disease Type of connection
Isolated congenital digital clubbing
Pachydermoperiostosis
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Currarino disease
- Currarino idiopathic osteoarthropathy
- Reginato-Schiapachasse syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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
Gene symbol UniProt reference OMIM reference
HPGD P15428601688
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