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Klinische FragestellungPeroxisomen-Biogenese-Störungen, großes panel
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Peroxisomen-Biogenese-Störungen mit 35 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0509
Anzahl Gene
35
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
53,8 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ABCD1 | 2238 | NM_000033.4 | XLR | |
| ACBD5 | 1473 | NM_001042473.4 | AR | |
| ACOX1 | 1869 | NM_004035.7 | AR | |
| AGK | 1269 | NM_018238.4 | AR | |
| AGPS | 1977 | NM_003659.4 | AR | |
| AGXT | 1179 | NM_000030.3 | AR | |
| AMACR | 1185 | NM_001167595.2 | AR | |
| ARSL | 1780 | NM_000047.3 | XLR | |
| CAT | 1584 | NM_001752.4 | AD, AR | |
| DNM1L | 2211 | NM_012062.5 | AD, AR | |
| DYM | 2010 | NM_017653.6 | AR | |
| EBP | 693 | NM_006579.3 | XL | |
| FAR1 | 1548 | NM_032228.6 | AR | |
| GNPAT | 2043 | NM_014236.4 | AR | |
| GRHPR | 987 | NM_012203.2 | AR | |
| HOGA1 | 984 | NM_138413.4 | AR | |
| HSD17B4 | 2211 | NM_000414.4 | AR | |
| NSDHL | 1122 | NM_015922.3 | XL | |
| PEX1 | 3852 | NM_000466.3 | AR | |
| PEX10 | 1041 | NM_153818.2 | AR | |
| PEX11B | 780 | NM_003846.3 | AR | |
| PEX12 | 1080 | NM_000286.3 | AR | |
| PEX13 | 1212 | NM_002618.4 | AR | |
| PEX14 | 1134 | NM_004565.3 | AR | |
| PEX16 | 1011 | NM_004813.4 | AR | |
| PEX19 | 900 | NM_002857.4 | AR | |
| PEX2 | 918 | NM_000318.3 | AR | |
| PEX26 | 918 | NM_017929.6 | AR | |
| PEX3 | 1122 | NM_003630.3 | AR | |
| PEX5 | 1920 | NM_001131025.2 | AR | |
| PEX6 | 2943 | NM_000287.4 | AR, AD | |
| PEX7 | 972 | NM_000288.4 | AR | |
| PHYH | 1017 | NM_006214.4 | AR | |
| SCP2 | 1644 | NM_002979.5 | AR | |
| TRIM37 | 2895 | NM_015294.6 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von AR vererbten Störungen, die die Bildung funktioneller Peroxisomen beeinträchtigen mit sensorineuraler Schwerhörigkeit, Pigmentdegeneration der Netzhaut, multipler Organdysfunktion, psychomotorischer Beeinträchtigung, umfasst die phänotypischen Varianten Zellweger-Syndrom, neonatale Adrenoleukodystrophie, infantile Refsum-Krankheit
Synonyme
- Alias: Infantile Refsum disease
- Alias: Neonatal adrenoleukodystrophy
- Alias: Peroxisomal biogenesis disturbances
- Alias: Peroxisome biogenesis disorder spectrum
- Allelic: Cataract 38, AR (AGK)
- Allelic: MEND syndrome (EBP)
- Allelic: Mitchell syndrome (ACOX1)
- Allelic: Optic atrophy 5 (DNM1L)
- Allelic: Perrault syndrome 1 (HSD17B4)
- Acatalasemia (CAT)
- Adrenoleukodystrophy (ABCD1)
- Adrenomyeloneuropathy, adult (ABCD1) D-bifunctional protein deficiency (HSD17B4)
- Alpha-methylacyl-CoA racemase deficiency (AMACR)
- Bile acid synthesis defect, congenital, 4 (AMACR)
- CHILD syndrome (NSDHL)
- CK syndrome (NSDHL)
- Chondrodysplasia punctata, XLD (EBP)
- Chondrodysplasia punctata, XLR (ARSL)
- Dyggve-Melchior-Clausen disease (DYM)
- Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
- Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
- Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
- Hyperoxaluria, primary, type 1 (AGXT)
- Hyperoxaluria, primary, type II (GRHPR)
- Hyperoxaluria, primary, type III (HOGA1)
- Krabbe disease (GALC)
- Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
- Metachromatic leukodystrophy (ARSA)
- Mulibrey nanism (TRIM37)
- Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
- Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
- Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
- Peroxisome biogenesis disorder 10B (PEX3)
- Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
- Peroxisome biogenesis disorder 11B (PEX13)
- Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
- Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
- Peroxisome biogenesis disorder 14B (PEX11B)
- Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
- Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
- Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
- Peroxisome biogenesis disorder 2B (PEX5)
- Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
- Peroxisome biogenesis disorder 3B (PEX12)
- Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
- Peroxisome biogenesis disorder 4B (PEX6)
- Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
- Peroxisome biogenesis disorder 5B (PEX2)
- Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
- Peroxisome biogenesis disorder 6B (PEX10)
- Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
- Peroxisome biogenesis disorder 7B (PEX26)
- Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
- Peroxisome biogenesis disorder 8B (PEX16)
- Peroxisome biogenesis disorder 9B (PEX7)
- Refsum disease (PHYH)
- Retinal dystrophy with leukodystrophy (ACBD5)
- Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
- Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
- Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
- Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
- Sengers syndrome (AGK)
- Smith-McCort dysplasia (DYM)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E88.9
Bioinformatik und klinische Interpretation
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