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1 OMIM reference -
1 associated gene
49 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12
1 OMIM reference -
1 associated gene
38 signs/symptoms
Camurati-Engelmann disease
Kniest dysplasia

TGFB1 COL2A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFB1
(0.85)
COL2A1



Citations in the biomedical literature:


Camurati-Engelmann disease
TGFB1
Kniest dysplasia
COL2A1



Camurati-Engelmann disease
Kniest dysplasia

Synonym(s):
- Progressive diaphyseal dysplasia

Synonym(s):
(no synonyms)

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
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D003966
External references:
1 OMIM reference -
1 MeSH reference: C537207


COMMON
SIGNS
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Kyphosis
- Lordosis
- Metaphyseal anomaly
- Proptosis / exophthalmos
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis


Camurati-Engelmann disease
Kniest dysplasia

Very frequent
- Anomalies of spine, vertebrae and pelvis
- Bone pain
- Cortical anomaly / thick bone cortical layer
- Diaphyseal anomaly
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hyperostosis
- Osteosclerosis / osteopetrosis / bone condensation
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Skull / cranial anomalies
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Frequent
- Abnormal gait
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity

Occasional
- Abnormal fat distribution / lipodystrophy
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anaemia
- Anorexia
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Bladder and ureter anomalies
- Cardiomyopathy / hypertrophic / dilated
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Facial dysmorphism
- Facial palsy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flat foot
- Frontal bossing / prominent forehead
- Genu valgum
- Hepatomegaly / liver enlargement (excluding storage disease)
- Late puberty / hypogonadism / hypogenitalism
- Leukopenia / hypoleukocytosis
- Marfanoid morphotype
- Multiple caries
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensitive trouble / deficit
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly


Very frequent
- Depressed nasal bridge
- Epiphyseal anomaly
- Joint / articular deformation
- Mesomelic micromelia
- Mid-facial hypoplasia / short / small midface
- Myopia
- Osteoarthritis
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Retinopathy
- Rhizomelic micromelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation
- Wide rib cage / thorax

Frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Retinal detachment
- Round face

Occasional
- Cataract / lens opacification
- Glossoptosis
- Lens dislocation / luxation / subluxation / ectopia lentis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Tracheal atresia / stenosis
- Tracheomalacia / tracheobronchomalacia