ODCs

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Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Multicentric carpo-tarsal osteolysis with or without nephropathy

1 OMIM reference -
1 associated gene
21 signs/symptoms

Berardinelli-Seip congenital lipodystrophy

Multicentric carpo-tarsal osteolysis with or without nephropathy

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FOS	(0.65)	MAFB

Citations in the biomedical literature:

Berardinelli-Seip congenital lipodystrophy		Multicentric carpo-tarsal osteolysis with or without nephropathy
	Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes		Synonym(s): - Idiopathic multicentric osteolysis with or without nephropathy

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: childhood 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	- Renal disease / nephropathy

Berardinelli-Seip congenital lipodystrophy		Multicentric carpo-tarsal osteolysis with or without nephropathy
	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 - Prognathism / prognathia - 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - 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 failure - Renal glomerular defect / glomerulopathy		Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Osteolysis / osteoclasia / bone destruction / erosions - Proptosis / exophthalmos - Proteinuria - Restricted joint mobility / joint stiffness / ankylosis - Triangular face - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wrist / carpal anomalies Frequent - Camptodactyly of fingers Occasional - Broad nasal root - Downturned mouth - Epiphyseal anomaly - Polyhydramnios - Telecanthus / canthal dystopy