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Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
45 signs/symptoms

Diffuse cutaneous systemic sclerosis

Apert syndrome

CAV1	(UniProt - OMIM)		FGFR2	(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	(0.14)	FGFR2

Citations in the biomedical literature:

Diffuse cutaneous systemic sclerosis		Apert syndrome
	Synonym(s): - Diffuse cutaneous systemic scleroderma - Progressive cutaneous systemic scleroderma - Progressive cutaneous systemic sclerosis		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000168


COMMON SIGNS	- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Diffuse cutaneous systemic sclerosis		Apert syndrome
	Very frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Lung / pulmonary infiltrates - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Radiologic lung abnormalities / changes 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 - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Mouth dryness / xerostomia - Multiple caries - Muscle weakness / flaccidity - 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 - Autosomal dominant inheritance - Brachycephaly / flat occiput - Conductive deafness / hearing loss - Depressed nasal bridge - Flat face - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Proptosis / exophthalmos - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Broad / bifid thumb - Chronic arterial hypertension - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Prognathism / prognathia - Strabismus / squint - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Thumb hypoplasia / aplasia / absence - Vertebral segmentation anomaly / hemivertebrae Occasional - Anus ectopia / anteposition / malposition - Arnold-Chiari anomaly - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Corneal ulceration / perforation - Dilated cerebral ventricles without hydrocephaly - Hydrocephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ovary / ovarian teratoma / germinoma - Rhizomelic micromelia - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia