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Klinische FragestellungProgerie-Syndrome, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Progerie-Syndrome mit 13 bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP5647
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,7 kb (Core-/Core-canditate-Gene)
27,6 kb (Erweitertes Panel: inkl. additional genes)
27,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| AGPAT2 | 837 | NM_006412.4 | AR | |
| B4GALT7 | 984 | NM_007255.3 | AR | |
| BANF1 | 270 | NM_001143985.1 | AR | |
| BSCL2 | 1197 | NM_032667.6 | AR | |
| GORAB | 1185 | NM_152281.3 | AR | |
| LMNA | 1995 | NM_170707.4 | AD | |
| PDGFRB | 3321 | NM_002609.4 | AD | |
| POLD1 | 3324 | NM_002691.4 | AD | |
| POLR3A | 4173 | NM_007055.4 | AR | |
| PYCR1 | 960 | NM_006907.4 | AR | |
| SLC25A24 | 1650 | NM_013386.5 | AD | |
| WRN | 4299 | NM_000553.6 | AR | |
| ZMPSTE24 | 1428 | NM_005857.5 | AR | |
| DMPK | 1920 | NM_001081563.2 | AD |
Infos zur Erkrankung
Klinischer Kommentar
ORPHA:740 Hutchinson-Gilford progeria syndrome
ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
ORPHA:280576 Nestor-Guillermo progeria syndrome
ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
ORPHA:2985 Pseudoprogeria syndrome
ORPHA:902 Werner syndrome
Synonyme
- Allelic: Agammaglobulinemia 7, AR (PIK3R1)
- Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
- Allelic: Immunodeficiency 36 (PIK3R1)
- Allelic: Neuropathy, distal hereditary motor, type VA (BSCL2)
- Allelic: Restrictive dermopathy, lethal (LMNA, ZMPSTE24)
- Cutis laxa, autosomal recessive, type IIB + IIIB (PYCR1)
- Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
- Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
- Fontaine progeroid syndrome (SLC25A24)
- Geroderma osteodysplasticum (GORAB)
- Hutchinson-Gilford progeria (LMNA)
- Kosaki overgrowth syndrome (PDGFRB)
- Leukodystrophy, hypomyelinating, 7, oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
- Lipodystrophy, congenital generalized, type 1 (AGPAT2)
- Lipodystrophy, congenital generalized, type 2 (BSCL2)
- Lipodystrophy, familial partial, type 2 (LMNA)
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (POLD1)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Myotonic dystrophy 1 (DMPK CTG)
- Myotonic dystrophy 2 (CNBP)
- Nestor-Guillermo progeria syndrome (BANF1)
- Premature aging syndrome, Penttinen type (PDGFRB)
- SHORT s.: Stature, Hyperextens. joints/hernia, Ocular depress., Rieger anom., Teething late (PIK3R1)
- Werner syndrome (WRN)
- Wiedemann-Rautenstrauch syndrome (POLR3A)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E34.8
Bioinformatik und klinische Interpretation
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