ErkrankungGM1-Gangliosidose Typ I-II, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für GM1-Gangliosidose Typ I-II mit 25 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
GP0909
Anzahl Gene
25
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
5,9 kb (Core-/Basis-Gene)
40,3 kb (Erweitertes Panel)
40,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
GLB1 | 2034 | AR | |
GM2A | 582 | AR | |
HEXA | 1590 | AR | |
HEXB | 1671 | AR | |
ASPA | 942 | AR | |
ATXN7 | 2679 | AD | |
CLN3 | 1317 | AR | |
CLN5 | 1077 | AR | |
CLN6 | 936 | AR | |
CLN8 | 861 | AR | |
CTSA | 1497 | AR und/oder Mult | |
CTSD | 1239 | AR | |
FGF14 | 744 | AD | |
GALC | 2058 | AR | |
GALNS | 1569 | AR | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
GFAP | 1299 | AD | |
GNPTAB | 3771 | AR | |
MFSD8 | 1557 | AR | |
MTCL1 | 4996 | AR | |
NEU1 | 1248 | AR | |
PPT1 | 921 | AR | |
SMPD1 | 1896 | AR | |
TPP1 | 1692 | AR | |
TXN2 | 501 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Beta-galactosidase-1 deficiency
- Alias: Infantile GM1 gangliosidosis
- Alias: Landing disease, Norman-Landing disease
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Macular dystrophy with central cone involvement (MFSD8)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
- Alexander disease (GFAP)
- Canavan disease (ASPA)
- Ceroid lipofuscinosis, neuronal, 1 (PPT1)
- Ceroid lipofuscinosis, neuronal, 10 (CTSD)
- Ceroid lipofuscinosis, neuronal, 2 (TPP1)
- Ceroid lipofuscinosis, neuronal, 3 (CLN3)
- Ceroid lipofuscinosis, neuronal, 5 (CLN5)
- Ceroid lipofuscinosis, neuronal, 6 (CLN6)
- Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
- Ceroid lipofuscinosis, neuronal, 8 (CLN8)
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
- Combined oxidative phosphorylation deficiency 29 (TXN2)
- GM1-gangliosidosis, type I-III (GLB1)
- GM2-gangliosidosis, AB variant (GM2A)
- GM2-gangliosidosis, several forms (HEXA)
- Galactosialidosis (CTSA)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, type I, II, III + IIIC (GBA)
- Hex A pseudodeficiency (HEXA)
- Krabbe disease (GALC)
- Mucolipidosis II alpha/beta (GNPTAB)
- Mucolipidosis III alpha/beta (GNPTAB)
- Mucopolysaccharidosis IVA (GALNS)
- Mucopolysaccharidosis type IVB, Morquio (GLB1)
- Niemann-Pick disease, type A (SMPD1)
- Niemann-Pick disease, type B (SMPD1)
- Sandhoff disease, infantile, juvenile, + adult forms (HEXB)
- Sialidosis, type I (NEU1)
- Sialidosis, type II (NEU1)
- Spinocerebellar ataxia 27 (FGF14)
- Spinocerebellar ataxia 7 (ATXN7_CAG)
- Spinocerebellar ataxia; mild ID, seizures, episodic pain [panelapp] (MTCL1)
- Tay-Sachs disease (HEXA)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR und/oder Sus
- AR
- AR und/oder Mult
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E75.1
Bioinformatik und klinische Interpretation
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