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Dysspondyloenchondromatosis
1 associated gene
22 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
Dysspondyloenchondromatosis
Legg-Calvé-Perthes disease

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

COMMON
GENES 		COL2A1


Citations in the biomedical literature:


Dysspondyloenchondromatosis
COL2A1
Legg-Calvé-Perthes disease



Dysspondyloenchondromatosis
Legg-Calvé-Perthes disease

Synonym(s):
(no synonyms)

Synonym(s):
- Aseptic necrosis of the capital femoral epiphysis
- Osteochondritis of the capital femoral epiphysis
- Osteochondrosis of the capital femoral epiphysis
- Perthes disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Delayed bone age
- Joint / articular deformation
- Short stature / dwarfism / nanism

Dysspondyloenchondromatosis
Legg-Calvé-Perthes disease

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
- 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


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance