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6 OMIM references -
7 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Osteogenesis imperfecta type 4
Caffey disease

COL1A1 COL1A1
COL1A2
CRTAP
PPIB
SP7
TMEM38B
WNT1


COMMON
GENES
COL1A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Caffey disease



Osteogenesis imperfecta type 4
Caffey disease

Synonym(s):
- OI type 4

Synonym(s):
- Infantile cortical hyperostosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic 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: unknown
Average age onset: neonatal/infancy
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:
6 OMIM references -
1 MeSH reference: C536045
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


Osteogenesis imperfecta type 4

(no data available)