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Camurati-Engelmann disease
1 OMIM reference -
1 associated gene
49 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
Camurati-Engelmann disease
Legg-Calvé-Perthes disease

TGFB1
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Camurati-Engelmann disease
TGFB1
Legg-Calvé-Perthes disease
COL2A1



Camurati-Engelmann disease
Legg-Calvé-Perthes disease

Synonym(s):
- Progressive diaphyseal dysplasia
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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D003966
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

Camurati-Engelmann disease
Legg-Calvé-Perthes disease

Very frequent
- Anomalies of spine, vertebrae and pelvis
- Autosomal dominant inheritance
- Bone pain
- Cortical anomaly / thick bone cortical layer
- Diaphyseal anomaly
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- 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
- Metaphyseal anomaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis

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
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Leukopenia / hypoleukocytosis
- Lordosis
- Marfanoid morphotype
- Multiple caries
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proptosis / exophthalmos
- Scoliosis
- Sensitive trouble / deficit
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Delayed bone age
- Joint / articular deformation
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance
- Short stature / dwarfism / nanism