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Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

Limited cutaneous systemic sclerosis

Pfeiffer syndrome type 3

CAV1	(UniProt - OMIM)		FGFR2	(UniProt - OMIM)
CCR6	(UniProt - OMIM)
CTGF	(UniProt - OMIM)
HLA-DRB1	(UniProt - OMIM)
IRF5	(UniProt - OMIM)
KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTGF	(0.14)	FGFR2

Citations in the biomedical literature:

Limited cutaneous systemic sclerosis		Pfeiffer syndrome type 3
	Synonym(s): - Limited cutaneous systemic scleroderma		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: (no data available)

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

Limited cutaneous systemic sclerosis		Pfeiffer syndrome type 3
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - 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 - Irregular / patchy skin hypopigmentation Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension		Very frequent - Arnold-Chiari anomaly - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - External auditory canal atresia / stenosis / agenesis - High forehead - High vaulted / narrow palate - Hypertelorism - Laryngomalacia - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Short / small nose - Stenosis of aqueduc of Sylvius - Thumb hypoplasia / aplasia / absence - Tracheomalacia / tracheobronchomalacia - Turricephaly / oxycephaly / acrocephaly Frequent - Choanal atresia - Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Ectopic / horseshoe / fused kidneys - Hearing loss / hypoacusia / deafness - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Vesicorenal / vesicoureteral reflux - Visual loss / blindness / amblyopia