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1 OMIM reference -
1 associated gene
49 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
5 associated genes
31 signs/symptoms
Camurati-Engelmann disease
Diffuse cutaneous systemic sclerosis

TGFB1 CAV1
CCR6
CTGF
HLA-DRB1
IRF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFB1
(0.52)
CTGF



Citations in the biomedical literature:


Camurati-Engelmann disease
TGFB1
Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5



Camurati-Engelmann disease
Diffuse cutaneous systemic sclerosis

Synonym(s):
- Progressive diaphyseal dysplasia

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D003966
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Multiple caries
- Muscle weakness / flaccidity


Camurati-Engelmann disease
Diffuse cutaneous systemic sclerosis

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 hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Restricted joint mobility / joint stiffness / ankylosis

Occasional
- Abnormal fat distribution / lipodystrophy
- 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
- 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
- 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
- Anomalies of skin, subcutaneous tissue and mucosae
- Autoimmunity / autoimmune reaction / autoantibodies
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Lung / pulmonary infiltrates
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Radiologic lung abnormalities / changes
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Dyspareunia / coital pain / vaginal dryness
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Mouth dryness / xerostomia
- Osteolysis / osteoclasia / bone destruction / erosions
- Telangiectasiae of the skin
- Tendon rupture / tendinitis / bursitis / tenosynovitis

Occasional
- Acute arterial hypertension / hypertensive crisis
- Heart / cardiac failure
- Intestinal transit disorder
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension
- Renal failure