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Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Reynolds syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Familial partial lipodystrophy, Dunnigan type

Reynolds syndrome

LMNA

(UniProt - OMIM)

LBR

(UniProt - OMIM)


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

Citations in the biomedical literature:

Familial partial lipodystrophy, Dunnigan type		Reynolds syndrome
	Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2		Synonym(s): - Primary biliary cirrhosis and systemic scleroderma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare hepatic disease - Rare renal disease - Rare skin disease - Rare systemic or rheumatologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic

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


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

Familial partial lipodystrophy, Dunnigan type		Reynolds syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Diabetes mellitus - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Lipoatrophy - Muscle hypertrophy - Round face - Skin hypoplasia / aplasia / atrophy - Xanthomas / lipomas Frequent - Anomalies of skin, subcutaneous tissue and mucosae - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Nails anomalies - Precocious menopause / secondary amenorrhea - Premature eruption of teeth / natal teeth - Thin skin Occasional - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Abnormal / polycystic ovaries - Acanthosis nigricans - Angor pectoris / myocardial infarction - Anomalies of complement - Cardiomyopathy / hypertrophic / dilated - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cranial nerves palsy - Heart / cardiac failure - Hirsutism / hypertrichosis / Increased body hair - Liver / hepatic steatosis - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Myopathy - Pancreatitis - Renal glomerular defect / glomerulopathy - Splenomegaly - Storage liver disease		Very frequent - Asthenia / fatigue / weakness - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - 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