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Reis-Bücklers corneal dystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Caffey disease
1 OMIM reference -
1 associated gene
15 signs/symptoms
Reis-Bücklers corneal dystrophy
Caffey disease

TGFBI
(UniProt - OMIM)
 COL1A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TGFBI
(0.63)
COL1A1


Citations in the biomedical literature:


Reis-Bücklers corneal dystrophy
TGFBI
Caffey disease
COL1A1



Reis-Bücklers corneal dystrophy
Caffey disease

Synonym(s):
- Anterior limiting membrane dystrophy type I
- Atypical granular corneal dystrophy
- Corneal dystrophy of Bowman layer type I
- Geographic corneal dystrophy
- Granular corneal dystrophy type III
- RBCD
- Superficial granular corneal dystrophy
Synonym(s):
- Infantile cortical hyperostosis
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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:
1 OMIM reference -
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


Reis-Bücklers corneal dystrophy

(no data available)