English
Klinische FragestellungMcLeod-Neuroacanthocytosis-Syndrom; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für McLeod-Neuroacanthocytosis-Syndrom mit 16 Leitlinien-kuratierten bzw. zusammen genommen 19 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP2939
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
36,4 kb (Core-/Core-canditate-Gene)
63,8 kb (Erweitertes Panel: inkl. additional genes)
63,8 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 |
|---|---|---|---|---|
| ATN1 | 3573 | NM_001007026.2 | AD | |
| ATP7B | 4398 | NM_000053.4 | AR | |
| ATXN3 | 1086 | NM_004993.6 | AD | |
| FTL | 528 | NM_000146.4 | AD | |
| HPRT1 | 657 | NM_000194.3 | XLR | |
| HTT | 9429 | NM_002111.8 | AD | |
| JPH3 | 561 | NM_001271604.4 | AD | |
| NKX2-1 | 1206 | NM_001079668.3 | XLR | |
| PANK2 | 1713 | NM_153638.4 | AR | |
| PLA2G6 | 2421 | NM_003560.4 | AR | |
| VPS13A | 9408 | NM_033305.3 | AR | |
| XK | 1335 | NM_021083.4 | XL | |
| ANGPTL3 | 1383 | NM_014495.4 | AR | |
| APOB | 13692 | NM_000384.3 | AD, AR | |
| CP | 3198 | NM_000096.4 | AR | |
| MTTP | 2685 | NM_000253.4 | AD, AR | |
| PRNP | 762 | NM_000311.5 | AD | |
| TAF1 | 5682 | NM_004606.5 | XLR |
Infos zur Erkrankung
Synonyme
- Alias: McLeod Neuro-Akanthozytose-Syndrom
- Alias: X-linked McLeod syndrome
- Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
- Allelic: Hypercholesterolemia, familial, 2 (APOB)
- Allelic: Hyperferritinemia-cataract syndrome (FTL)
- Allelic: Hyperuricemia, HRPT-related (HPRT1)
- Allelic: Hypoceruloplasminemia, hereditary (CP)
- Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
- Allelic: L-ferritin deficiency, AD + AR (FTL)
- Allelic: Lopes-Maciel-Rodan syndrome (HTT)
- Allelic: Metabolic syndrome, protection against (MTTP)
- Allelic: Parkinson disease, susceptibility to (TBP)
- Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
- Abetalipoproteinemia (MTTP)
- Allelic: Kuru, susceptibility to (PRNPP)
- Cerebellar ataxia (CP)
- Cerebral amyloid angiopathy, PRNP-related (PRNP)
- Chorea, hereditary benign (NKX2-1)
- Choreoacanthocytosis (VPS13A)
- Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
- Creutzfeldt-Jakob disease (PRNP)
- Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
- Dystonia-Parkinsonism, XL (TAF1 syn. DYT3)
- Gerstmann-Straussler disease (PRNP)
- HARP [hypoprebetalipoproteinemia, acanthocytosis, retinitis pigm., pallidal degen.] syndrome (PANK2)
- Hemosiderosis, systemic, due to aceruloplasminemia (CP)
- Huntington disease (HTT_CAG)
- Huntington disease-like 1 (PRNP)
- Huntington disease-like 2 (JPH3_CAG)
- Hypobetalipoproteinemia (APOB)
- Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
- Insomnia, fatal familial (PRNP)
- Lesch-Nyhan syndrome (HPRT1)
- Machado-Joseph disease (ATXN3_CAG)
- McLeod syndrome with or without chronic granulomatous disease (XK)
- Mental retardation, XL, syndromic 33 (TAF1)
- Neurodegeneration with brain iron accumulation 1 (PANK2)
- Neurodegeneration with brain iron accumulation 2B (PLA2G6)
- Neurodegeneration with brain iron accumulation 3 (FTL)
- Parkinson disease 14, AR (PLA2G6)
- Spinocerebellar ataxia 17 (TBP_CAG)
- Spongiform encephalopathy with neuropsychiatric features (PRNP)
- Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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