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Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Pfeiffer syndrome type 2

1 associated gene
34 signs/symptoms

Diffuse cutaneous systemic sclerosis

Pfeiffer syndrome type 2

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		Pfeiffer syndrome type 2
	Synonym(s): - Diffuse cutaneous systemic scleroderma - Progressive cutaneous systemic scleroderma - Progressive cutaneous systemic sclerosis		Synonym(s): (no synonyms)

	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

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Diffuse cutaneous systemic sclerosis		Pfeiffer syndrome type 2
	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 - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - 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 - Arnold-Chiari anomaly - Autosomal dominant inheritance - Broad / bifid big toe - Broad / bifid thumb - Cloverleaf skull - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Choanal atresia - External auditory canal atresia / stenosis / agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Stenosis of aqueduc of Sylvius - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Tracheomalacia / tracheobronchomalacia Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Early death / lethality - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Visual loss / blindness / amblyopia