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ErkrankungBerardinelli-Seip kongenitale Lipodystrophie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Berardinelli-Seip kongenitale Lipodystrophie mit 2-14 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
BP5777
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,1 kb (Core-/Basis-Gene)
33,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AGPAT2837AR
BSCL21197AD und/oder AR
CAV1537AD und/oder AR
CAVIN11173AR
FBN18616AD und/oder Mult
GALC2058AR
GBA1611AD und/oder AR und/oder Sus
INSR4149AD und/oder AR und/oder Sus
LMNA1995AD und/oder AR und/oder Dig
LMNB21863AD und/oder AR
PIK3R12175AD und/oder AR
POLR3A4173AR
PPARG1518AD und/oder Ass
ZMPSTE241428AR

Infos zur Erkrankung

Synonyme
  • Alias: Brunzell syndrome (AGPAt2)
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E88.1

Bioinformatik und klinische Interpretation

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