ODCs

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Reynolds syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Familial partial lipodystrophy, KÃ¶bberling type

1 OMIM reference -
1 associated gene
15 signs/symptoms

Reynolds syndrome

Familial partial lipodystrophy, KÃ¶bberling type

LBR

(UniProt - OMIM)

LMNA

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LBR	(0.49)	LMNA

Citations in the biomedical literature:

Reynolds syndrome		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - Primary biliary cirrhosis and systemic scleroderma		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - Rare hepatic disease - Rare renal 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 digestive system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Hepatomegaly / liver enlargement (excluding storage disease)

Reynolds syndrome		Familial partial lipodystrophy, KÃ¶bberling type
	Very frequent - Asthenia / fatigue / weakness - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Myalgia / muscular pain - Pruritus / itching Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Arthritis / synovitis / synovial proliferation - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Dermal / subcutaneous infiltration / induration - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Fever / chilling - Irregular / in bands / reticular skin hyperpigmentation - Mouth dryness / xerostomia - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin - Tight skin / lack of elasticity - Xerophthalmia / dry eyes Occasional - Ascitis - Cirrhosis - Encephalitis - Hepatitis / icterus / cholestasis - Lichen - Respiratory distress / dyspnea / respiratory failure / lung volume reduction		Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Diabetes mellitus - Hyperinsulinism / hyperinsulinemia - Insulin resistance - Insulin-dependent / type 1 diabetes - Lipoatrophy Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Liver / hepatic steatosis - Xanthomas / lipomas Occasional - Angor pectoris / myocardial infarction - Pancreatitis