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Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Diffuse cutaneous systemic sclerosis

Rabson-Mendenhall syndrome

CAV1	(UniProt - OMIM)		INSR	(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)	CAV1	(0.73)	INSR

Citations in the biomedical literature:

Diffuse cutaneous systemic sclerosis		Rabson-Mendenhall syndrome
	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 endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056731


COMMON SIGNS	- Dry / squaly skin / exfoliation

Diffuse cutaneous systemic sclerosis		Rabson-Mendenhall syndrome
	Very frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Lung / pulmonary infiltrates - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Radiologic lung abnormalities / changes - Respiratory distress / dyspnea / respiratory failure / lung volume reduction 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 - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome