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 Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 16 |
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 +
Locipanel
Gen
| 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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