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High bone mass osteogenesis imperfecta

2 associated genes
No signs/symptoms info

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

High bone mass osteogenesis imperfecta

Caffey disease

COL1A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
COL1A2	(UniProt - OMIM)


COMMON GENES	COL1A1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A2	(0.62)	COL1A1

Citations in the biomedical literature:

High bone mass osteogenesis imperfecta		Caffey disease
	Synonym(s): - High bone mass OI		Synonym(s): - Infantile cortical hyperostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Caffey disease
	Very frequent - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cortical anomaly / thick bone cortical layer Frequent - Bone tumefaction / swelling - Fever / chilling - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperesthesia / allodynia / hyperalgia Occasional - Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypergammaglobulinemia - Hyperleukocytosis / leukocytosis - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis
High bone mass osteogenesis imperfecta
(no data available)