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Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Camurati-Engelmann disease

1 OMIM reference -
1 associated gene
49 signs/symptoms

Diffuse cutaneous systemic sclerosis

Camurati-Engelmann disease

CAV1	(UniProt - OMIM)		TGFB1	(UniProt - OMIM)
CCR6	(UniProt - OMIM)
CTGF	(UniProt - OMIM)
HLA-DRB1	(UniProt - OMIM)
IRF5	(UniProt - OMIM)


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

Citations in the biomedical literature:

Diffuse cutaneous systemic sclerosis		Camurati-Engelmann disease
	Synonym(s): - Diffuse cutaneous systemic scleroderma - Progressive cutaneous systemic scleroderma - Progressive cutaneous systemic sclerosis		Synonym(s): - Progressive diaphyseal dysplasia

	Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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


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

Diffuse cutaneous systemic sclerosis		Camurati-Engelmann disease
	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		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