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Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary gingival fibromatosis

4 OMIM references -
1 associated gene
2 signs/symptoms

Limited cutaneous systemic sclerosis

Hereditary gingival fibromatosis

CAV1	(UniProt - OMIM)		SOS1	(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)	CAV1	(0.52)	SOS1

Citations in the biomedical literature:

Limited cutaneous systemic sclerosis		Hereditary gingival fibromatosis
	Synonym(s): - Limited cutaneous systemic scleroderma		Synonym(s): - Autosomal dominant gingival fibromatosis - Autosomal dominant gingival hyperplasia - Hereditary gingival hyperplasia

	Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the digestive system -

	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: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 4 OMIM references - No MeSH references

Limited cutaneous systemic sclerosis		Hereditary gingival fibromatosis
	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 - Autosomal dominant inheritance - Thickened / hypertrophic / fibromatous gingivae