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Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 17

Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

Familial partial lipodystrophy, Dunnigan type

Berardinelli-Seip congenital lipodystrophy

LMNA	(UniProt - OMIM)	AGPAT2	(UniProt - OMIM)
		BSCL2	(UniProt - OMIM)
		CAV1	(UniProt - OMIM)
		FOS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.67)	FOS

Citations in the biomedical literature:

Familial partial lipodystrophy, Dunnigan type		Berardinelli-Seip congenital lipodystrophy
	Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2		Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Abnormal fat distribution / lipodystrophy - Abnormal / polycystic ovaries - Acanthosis nigricans - Angor pectoris / myocardial infarction - Cardiomyopathy / hypertrophic / dilated - Diabetes mellitus - Hepatomegaly / liver enlargement (excluding storage disease) - Hirsutism / hypertrichosis / Increased body hair - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Lipoatrophy - Liver / hepatic steatosis - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Muscle hypertrophy - Pancreatitis - Renal glomerular defect / glomerulopathy - Storage liver disease

Familial partial lipodystrophy, Dunnigan type		Berardinelli-Seip congenital lipodystrophy
	Very frequent - Autosomal dominant inheritance - 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 - Anomalies of complement - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cranial nerves palsy - Heart / cardiac failure - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Myalgia / muscular pain - Myopathy - Splenomegaly		Very frequent - Advanced bone age - Autosomal recessive inheritance - Broad foot - Foot anomalies - Hyperinsulinism / hyperinsulinemia - Large hand - Prognathism / prognathia - Prominent supraorbital ridge - Thick skin / pachydermia / orange skin Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acromegaly - Bone cyst - Hair and scalp anomalies - Hepatocellular liver disease / hepatic failure - Hyperhidrosis / increased sweating - Intellectual deficit / mental / psychomotor retardation / learning disability - Precocious puberty Occasional - Anomalies of tongue, gingiva and oral mucosa - Arterial stenosis / occlusion - Cirrhosis - Dilated cerebral ventricles without hydrocephaly - Early death / lethality - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mutiple fractures / bone fragility - Peripheral neuropathy - Pulmonary hypertension - Renal disease / nephropathy - Renal failure