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Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

8p23.1 microdeletion syndrome

1 associated gene
37 signs/symptoms

Berardinelli-Seip congenital lipodystrophy

8p23.1 microdeletion syndrome

AGPAT2	(UniProt - OMIM)	GATA4	(UniProt - OMIM)
BSCL2	(UniProt - OMIM)
CAV1	(UniProt - OMIM)
FOS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FOS	(0.52)	GATA4

Citations in the biomedical literature:

Berardinelli-Seip congenital lipodystrophy		8p23.1 microdeletion syndrome
	Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes		Synonym(s): - Del(8)(p23.1) - Monosomy 8p23.1

	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 urogenital 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: sporadic

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


COMMON SIGNS	- Cardiomyopathy / hypertrophic / dilated - Intellectual deficit / mental / psychomotor retardation / learning disability

Berardinelli-Seip congenital lipodystrophy		8p23.1 microdeletion 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 - Prognathism / prognathia - Prominent supraorbital ridge - Storage liver disease - 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 - 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 - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion - Intrauterine growth retardation Frequent - Atrioventricular canal - Broad nose / nasal bridge - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypospadias / epispadias / bent penis - Microcephaly - Narrow forehead - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Seizures / epilepsy / absences / spasms / status epilepticus - Short neck - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad / bifid big toe - Broad / bifid thumb - Deepset eyes / enophthalmos - Diaphragmatic hernia / defect / agenesis - Generalized obesity - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Patent ductus arteriosus - Proximally set thumb - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels