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Crouzon syndrome - acanthosis nigricans

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

Crouzon syndrome - acanthosis nigricans

Limited cutaneous systemic sclerosis

FGFR3	(UniProt - OMIM)		CAV1	(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)	FGFR3	(0.14)	CTGF

Citations in the biomedical literature:

Crouzon syndrome - acanthosis nigricans		Limited cutaneous systemic sclerosis
	Synonym(s): - Crouzono-dermoskeletal syndrome		Synonym(s): - Limited cutaneous systemic scleroderma

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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 - No MeSH references		External references: No OMIM references No MeSH references

Crouzon syndrome - acanthosis nigricans		Limited cutaneous systemic sclerosis
	Very frequent - Acanthosis nigricans - Autosomal dominant inheritance - Frontal bossing / prominent forehead - High forehead Frequent - Abnormal vertebral size / shape - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hydrocephaly - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Ptosis - Short hand / brachydactyly - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Beaked nose - Facial pain / cephalalgia / migraine - High vaulted / narrow palate - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		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