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1 associated gene
22 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Dysspondyloenchondromatosis
Granular corneal dystrophy type I

COL2A1 TGFBI


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dysspondyloenchondromatosis
COL2A1
Granular corneal dystrophy type I
TGFBI



Dysspondyloenchondromatosis
Granular corneal dystrophy type I

Synonym(s):
(no synonyms)

Synonym(s):
- Classic GCD
- Classic granular corneal dystrophy
- Corneal dystrophy Groenouw type I
- GCD1
- GCDI
- Granular corneal dystrophy type 1

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
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

Dysspondyloenchondromatosis

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Exostoses
- Joint / articular deformation
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Scoliosis
- Short stature / dwarfism / nanism
- Vascular anomalies of skin / mucosae
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Delayed bone age
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Genu valgum
- Osteoarthritis
- Platyspondyly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications


Granular corneal dystrophy type I

(no data available)