Klinische FragestellungBerardinelli-Seip kongenitale Lipodystrophie, Differentialdiagnose

NGS +

illness_ClinicalComment_BP5777

• Alias: Berardinelli-Seip congenital lipodystrophy
• Alias: Berardinelli-Seip syndrome
• Alias: Brunzell syndrome (AGPAT2)
• Alias: Brunzell syndrome [with bone cysts]
• Alias: Congenital Generalized Lipoatrophy
• Alias: Generalized lipodystrophy
• Alias: Lipodystrophy, congenital generalized
• Alias: Seip syndrome
• Alias: Total lipodystrophy
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Agammaglobulinemia 7, AR (PIK3R1)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Carotid intimal medial thickness 1 (PPARG)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Colorectal cancer, susceptibility to, 10 (POLD1)
• Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
• Allelic: Diabetes, type 2 (PPARG)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Allelic: Epilepsy, progressive myoclonic, 9 (LMNB2)
• Allelic: Gaucher disease, type I-III, IIIC (GBA)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: Insulin resistance, severe, digenic (PPARG)
• Allelic: Leprechaunism (INSR)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: MASS syndrome (FBN1)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Marfan syndrome (FBN1)
• Allelic: Microcephaly 27, primary, AD (LMNB2)
• Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
• Allelic: Obesity, resistance to (PPARG)
• Allelic: Obesity, severe (PPARG)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Pulmonary hypertension, primary, 3 (CAV1)
• Allelic: Rabson-Mendenhall syndrome (INSR)
• Allelic: Silver spastic paraplegia syndrome (BSCL2)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Weill-Marchesani syndrome 2, dominant (FBN1)
• Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
• Gaucher disease, perinatal lethal (GBA)
• Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Keppen-Lubinsky syndrome (KCNJ6)
• Krabbe disease (GALC)
• Leukodystrophy, hypomyelinating, 7, oligodontia, hypogon. hypogonadism (POLR3A)
• Lipodystrophy, congenital generalized, type 1 (AGPAT2)
• Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Lipodystrophy, congenital generalized, type 3 (CAV1)
• Lipodystrophy, congenital generalized, type 4 (CAVIN1)
• Lipodystrophy, familial partial, type 2 (LMNA)
• Lipodystrophy, familial partial, type 3 (PPARG)
• Lipodystrophy, familial partial, type 4 (PLIN1)
• Lipodystrophy, familial partial, type 6 (LIPE)
• Lipodystrophy, familial partial, type 7 (CAV1)
• Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
• Mandibular hypoplasia, deafness, progeroid features + lipodystrophy syndrome (POLD1)
• Mandibuloacral dysplasia progeroid syndrome (MTX2)
• Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Marfan lipodystrophy syndrome (FBN1)
• Restrictive dermopathy, lethal (LMNA)
• Restrictive dermopathy, lethal (ZMPSTE24)
• SHORT s. [Stature; Hyperextensibility/Hernia; Ocular depress. Rieger anom. Teething delay] (PIK3R1)
• Wiedemann-Rautenstrauch syndrome (POLR3A)