Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
30 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
1 associated gene
22 signs/symptoms
Fibrochondrogenesis
Dysspondyloenchondromatosis

COL11A1 COL2A1
COL11A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL11A1
COL11A2
(0.52)
(0.52)
COL2A1
COL2A1



Citations in the biomedical literature:


Fibrochondrogenesis
COL11A1 COL11A2
Dysspondyloenchondromatosis
COL2A1



Fibrochondrogenesis
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: <1 / 1 000 000
Average age onset: neonatal/infancy
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:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance
- Short stature / dwarfism / nanism


Fibrochondrogenesis
Dysspondyloenchondromatosis

Very frequent
- Abnormal vertebral size / shape
- Anomalies of the ribs
- Diaphyseal anomaly
- Flared chest / bell-shaped thorax / shield chest
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Proptosis / exophthalmos
- Round face
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short neck
- Stillbirth / neonatal death

Frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of ear and hearing
- Anteverted nares / nostrils
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Occasional
- Camptodactyly of fingers
- Hypertelorism
- Mesomelic micromelia
- Omphalocele / exomphalos
- Plagiocephaly


Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of spine, vertebrae and pelvis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Exostoses
- Joint / articular deformation
- 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
- 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