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Reis-Bücklers corneal dystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Spondyloepiphyseal dysplasia congenita
1 OMIM reference -
1 associated gene
26 signs/symptoms
Reis-Bücklers corneal dystrophy
Spondyloepiphyseal dysplasia congenita

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
Spondyloepiphyseal dysplasia congenita
COL2A1



Reis-Bücklers corneal dystrophy
Spondyloepiphyseal dysplasia congenita

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):
- Congenital spondyloepiphyseal dysplasia
- SEDC
- Spranger-Wiedemann disease
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):
- 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: -
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
Spondyloepiphyseal dysplasia congenita

Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Broad forehead
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat face
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Lordosis
- Osteoarthritis
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus

Occasional
- Cataract / lens opacification
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Kyphosis
- Myopia
- Nystagmus
- Retinal detachment
- Scoliosis


Reis-Bücklers corneal dystrophy

(no data available)