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3 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 5
1 associated gene
22 signs/symptoms
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Dysspondyloenchondromatosis

COL9A1 COL2A1
COL9A2
COL9A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL9A1
COL9A3
COL9A2
(0.75)
(0.62)
(0.52)
COL2A1
COL2A1
COL2A1



Citations in the biomedical literature:


Multiple epiphyseal dysplasia due to collagen 9 anomaly
COL9A1 COL9A2 COL9A3
Dysspondyloenchondromatosis
COL2A1



Multiple epiphyseal dysplasia due to collagen 9 anomaly
Dysspondyloenchondromatosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Genu valgum
- Joint / articular deformation
- Osteoarthritis
- Short stature / dwarfism / nanism


Multiple epiphyseal dysplasia due to collagen 9 anomaly
Dysspondyloenchondromatosis

Very frequent
- Epiphyseal anomaly

Frequent
- Abnormal gait
- Articular / joint pain / arthralgia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia

Occasional
- Genu varum


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
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Scoliosis
- Vascular anomalies of skin / mucosae
- Vertebral segmentation anomaly / hemivertebrae

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

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