Chronic intestinal pseudoobstruction |
Berardinelli-Seip congenital lipodystrophy |
FLNA | AGPAT2 | |||
BSCL2 | ||||
CAV1 | ||||
FOS |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
FLNA | (0.52) | CAV1 | |
Citations in the biomedical literature:
Chronic intestinal pseudoobstruction |
Berardinelli-Seip congenital lipodystrophy |
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Very frequent - Intestinal / colonic anomaly Frequent - Gastric / pyloric stenosis - Intestinal / gut / bowel malrotation - Structural anomalies of the nervous system Occasional - Patent ductus arteriosus - Platelets shape anomalies | 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 disease / nephropathy - Renal failure - Renal glomerular defect / glomerulopathy |