English
Klinische Fragestellung3-Methylglutaconazidurie Typ 7, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für 3-Methylglutaconazidurie Typ 7 mit 1 "core"-Gen und zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP9233
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 17 |
Untersuchte Sequenzlänge
2,1 kb (Core-/Core-canditate-Gene)
22,4 kb (Erweitertes Panel: inkl. additional genes)
22,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CLPB | 2034 | NM_001258392.3 | AR | |
| AGK | 1269 | NM_018238.4 | AR | |
| ARHGEF9 | 1551 | NM_015185.3 | XL | |
| AUH | 1020 | NM_001698.3 | AR | |
| DNAJC5 | 597 | NM_025219.3 | AD | |
| ELANE | 804 | NM_001972.4 | AD | |
| G6PC3 | 1041 | NM_138387.4 | AR | |
| GATA1 | 1242 | NM_002049.4 | XLR | |
| GLRA1 | 1350 | NM_000171.4 | AD, AR | |
| GLRB | 1494 | NM_000824.5 | AR | |
| GPHN | 2310 | NM_020806.5 | AR, AD | |
| OPA3 | 540 | NM_025136.4 | AR, AD | |
| SERAC1 | 1965 | NM_032861.4 | AR | |
| SLC6A5 | 2394 | NM_004211.5 | AD, AR | |
| TAFAZZIN | 879 | NM_000116.5 | XLR | |
| TMEM70 | 324 | NM_001040613.3 | AR | |
| WAS | 1509 | NM_000377.3 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
3-Methylglutaconsäure-Urie stellt eine Gruppe von Stoffwechselstörungen dar, die die Energieproduktion in den Mitochondrien verhindern. In der Folge sammelt sich 3-Methylglutaconsäure an und kann im Urin nachgewiesen werden.
Synonyme
- Alias: 3-Methylglutaconazidurie-Katarakt-neurologische Beteiligung-Neutropenie-Syndrom
- Alias: 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
- Alias: Caseinolytic Peptidase B Deficiency, type VIIB (CLPB)
- Allelic: Dursun syndrome (G6PC)
- Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
- Allelic: Optic atrophy 3 with cataract (OPA3)
- 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (SERAC1)
- 3-methylglutaconic aciduria, type I (AUH)
- 3-methylglutaconic aciduria, type III (OPA3)
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
- Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
- Aplastic anemia, susceptibility to (SBDS)
- Barth syndrome (TAFAZZIN)
- Cataract 38, AR (AGK)
- Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
- Developmental and epileptic encephalopathy 8 (ARHGEF9)
- Hyperekplexia 1 (GLRA1)
- Hyperekplexia 2 (GLRB)
- Hyperekplexia 3 (SLC6A5)
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
- Molybdenum cofactor deficiency C (GPHN)
- Neutropenia, cyclic (ELANE)
- Neutropenia, severe congenital 1, AD (ELANE)
- Neutropenia, severe congenital 4, AR (G6PC)
- Neutropenia, severe congenital, XL (WAS)
- Sengers syndrome (AGK)
- Shwachman-Diamond syndrome (SBDS)
- Thrombocytopenia with beta-thalassemia, XL (GATA1)
- Thrombocytopenia, XL (WAS)
- Thrombocytopenia, XL, intermittent (WAS)
- Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
- Wiskott-Aldrich syndrome (WAS)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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