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Reis-Bücklers corneal dystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Kniest dysplasia
1 OMIM reference -
1 associated gene
38 signs/symptoms
Reis-Bücklers corneal dystrophy
Kniest dysplasia

TGFBI
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TGFBI
(0.62)
COL2A1


Citations in the biomedical literature:


Reis-Bücklers corneal dystrophy
TGFBI
Kniest dysplasia
COL2A1



Reis-Bücklers corneal dystrophy
Kniest dysplasia

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):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537207
Kniest dysplasia

Very frequent
- Autosomal dominant inheritance
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Joint / articular deformation
- Kyphosis
- Lordosis
- Mesomelic micromelia
- Metaphyseal anomaly
- Mid-facial hypoplasia / short / small midface
- Myopia
- Osteoarthritis
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Restricted joint mobility / joint stiffness / ankylosis
- Retinopathy
- Rhizomelic micromelia
- Scoliosis
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation
- Wide rib cage / thorax

Frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Proptosis / exophthalmos
- Retinal detachment
- Round face

Occasional
- Cataract / lens opacification
- Glaucoma
- Glossoptosis
- Lens dislocation / luxation / subluxation / ectopia lentis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Tracheal atresia / stenosis
- Tracheomalacia / tracheobronchomalacia


Reis-Bücklers corneal dystrophy

(no data available)