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)
33,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AGPAT2 | 837 | AR | |
BSCL2 | 1197 | AD und/oder AR | |
CAV1 | 537 | AD und/oder AR | |
CAVIN1 | 1173 | AR | |
FBN1 | 8616 | AD und/oder Mult | |
GALC | 2058 | AR | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
INSR | 4149 | AD und/oder AR und/oder Sus | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
LMNB2 | 1863 | AD und/oder AR | |
PIK3R1 | 2175 | AD und/oder AR | |
POLR3A | 4173 | AR | |
PPARG | 1518 | AD und/oder Ass | |
ZMPSTE24 | 1428 | AR |
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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