English
Klinische FragestellungCutis laxa, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Cutis laxa, Differentialdiagnose, mit zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP9251
Anzahl Gene
16
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,2 kb (Core-/Core-canditate-Gene)
31,3 kb (Erweitertes Panel: inkl. additional genes)
31,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ATP6V0A2 | 2571 | NM_012463.4 | AR | |
| EFEMP2 | 1332 | NM_016938.5 | AR | |
| ELN | 2175 | NM_000501.4 | AD | |
| FBLN5 | 1347 | NM_006329.4 | AR | |
| LTBP4 | 4763 | NM_003573.2 | AR | |
| ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
| ATP7A | 4503 | NM_000052.7 | XLR | |
| GORAB | 1185 | NM_152281.3 | AR | |
| PYCR1 | 960 | NM_006907.4 | AR | |
| SLC2A10 | 1626 | NM_030777.4 | AR | |
| SMAD2 | 1404 | NM_005901.6 | AD | |
| SMAD3 | 1278 | NM_005902.4 | AD | |
| TGFB2 | 1245 | NM_003238.6 | AD | |
| TGFB3 | 1239 | NM_003239.5 | AD | |
| TGFBR1 | 1512 | NM_004612.4 | AD | |
| TGFBR2 | 1704 | NM_003242.6 | AD |
Infos zur Erkrankung
Synonyme
- Alias: AR Cutis Laxa Type 1B
- Alias: Cutis laxa, AR, Lungenemphysem Typ
- Alias: Cutis laxa, AR, mit schwerer systemischer Beteiligung
- Alias: EFEMP2-Related Cutis Laxa
- Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
- Allelic: Developmental + epileptic encephalopathy 9 (ATP6V1A)
- Allelic: Doyne honeycomb degeneration of retina (EFEMP1)
- Allelic: Esophageal cancer, somatic (TGFBR2)
- Allelic: Infantile liver failure syndrome 2 (NBAS)
- Allelic: Macular degeneration, age-related, 3 (FBLN5)
- Allelic: Menkes disease (ATP7A)
- Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
- Allelic: Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
- Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
- Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
- Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
- Allelic: Supravalvar aortic stenosis (ELN)
- Aortic aneurysm, familial thoracic 10 (LOX)
- Arterial tortuosity syndrome (SLC2A10)
- Connective tissue disorder [panelapp Ehlers-Danlos panel] (EFEMP1)
- Cutis laxa, AD (ELN)
- Cutis laxa, AD 2 (FBLN5)
- Cutis laxa, AD 3 (ALDH18A1)
- Cutis laxa, AR, type IA (FBLN5)
- Cutis laxa, AR, type IB (EFEMP2)
- Cutis laxa, AR, type IC (LTBP4)
- Cutis laxa, AR, type IIA (ATP6V0A2)
- Cutis laxa, AR, type IIB (PYCR1)
- Cutis laxa, AR, type IIC (ATP6V1E1)
- Cutis laxa, AR, type IID (ATP6V1A)
- Cutis laxa, AR, type IIIA (ALDH18A1)
- Cutis laxa, AR, type IIIB (PYCR1)
- Geroderma osteodysplasticum (GORAB)
- Lenz-Majewski hyperostotic dwarfism (PTDSS1)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
- Macrocephaly, alopecia, cutis laxa + scoliosis (RIN2)
- Neuronopathy, distal hereditary motor, type X (EMILIN1)
- Occipital horn syndrome (ATP7A)
- Short stature, optic nerve atrophy + Pelger-Huet anomaly (NBAS)
- Wrinkly skin syndrome (ATP6V0A2)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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