ODCs

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Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Proteus-like syndrome

1 OMIM reference -
1 associated gene
22 signs/symptoms

Berardinelli-Seip congenital lipodystrophy

Proteus-like syndrome

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAV1	(0.78)	PTEN

Citations in the biomedical literature:

Berardinelli-Seip congenital lipodystrophy		Proteus-like syndrome
	Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes		Synonym(s): - Cohen-Hayden syndrome

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia

Berardinelli-Seip congenital lipodystrophy		Proteus-like syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Acanthosis nigricans - Advanced bone age - Autosomal recessive inheritance - Broad foot - Diabetes mellitus - Foot anomalies - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperinsulinism / hyperinsulinemia - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Large hand - Lipoatrophy - Muscle hypertrophy - Prominent supraorbital ridge - Storage liver disease - Thick skin / pachydermia / orange skin Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acromegaly - Bone cyst - Cardiomyopathy / hypertrophic / dilated - Hair and scalp anomalies - Hepatocellular liver disease / hepatic failure - Hirsutism / hypertrichosis / Increased body hair - Hyperhidrosis / increased sweating - Precocious puberty Occasional - Abnormal / polycystic ovaries - Angor pectoris / myocardial infarction - 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 - Liver / hepatic steatosis - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Mutiple fractures / bone fragility - Pancreatitis - Peripheral neuropathy - Pulmonary hypertension - Renal disease / nephropathy - Renal failure - Renal glomerular defect / glomerulopathy		Very frequent - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Conjunctival tumor / epibulbar dermoid - Dental malocclusion - Exostoses - Genu recurvatum - Irregular / in bands / reticular skin hyperpigmentation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Myopia - Pigmented naevi / naevus pigmentosus / lentigo - Pupillary anomalies / mydriasis / myosis / tonic pupil - Xanthomas / lipomas Frequent - Cataract / lens opacification - Communicating hydrocephaly - Heterochromia / mixed colouring of iris - Macrocephaly / macrocrania / megalocephaly / megacephaly - Parathyroids anomalies - Retinal detachment - Shagreen patch - Varices / varicous veins / venous insufficiency