Klinische FragestellungGM1-Gangliosidose Typ III, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für GM1-Gangliosidose Typ III mit 1 Leitlinien-kuratierten "core"-Gen, 5 in den Leitlinien auch erwähnten "core candidate"-Genen sowie insgesamt 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose

GP0919

Anzahl Loci

Locus-Typ	Anzahl
Gen	26

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

8,3 kb (Core-/Core-canditate-Gene)
59,4 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
CLN6	936	606725	NM_017882.3	AR
CTSF	1455	603539	NM_003793.4	AR
DNAJC5	597	611203	NM_025219.3	AR
GLB1	2034	611458	NM_000404.4	AR
HEXA	1590	606869	NM_000520.6	AR
HEXB	1671	606873	NM_000521.4	AR
AR	2763	313700	NM_000044.6	XLR
ATP7B	4398	606882	NM_000053.4	AR
C9orf72	1446	614260	NM_018325.5	AD
CHCHD10	429	615903	NM_213720.3	AD
DNAJC6	2913	608375	NM_001256864.2	AR
FBXO7	1332	605648	NM_001033024.2	AR
FUS	1581	137070	NM_004960.4	AD
FXN	633	606829	NM_000144.5	AR
GALNS	1569	612222	NM_000512.5	AR
HTT	9429	613004	NM_002111.8	AD, AR
PARK7	570	602533	NM_007262.5	AR
PINK1	1746	608309	NM_032409.3	AR
PRKN	1398	602544	NM_004562.3	AR
SMN1	885	600354	NM_000344.4	AR
SOD1	465	147450	NM_000454.5	AD, AR
SYNJ1	4839	604297	NM_003895.3	AR
TARDBP	1245	605078	NM_007375.4	AD
TFG	1203	602498	NM_006070.6	AR
VAPB	732	605704	NM_004738.5	AD
VPS13C	11512	608879	NM_001018088.3	AR

Infos zur Erkrankung

Synonyme

Alias: Beta-galactosidase-1 deficiency
Alias: Infantile GM1 gangliosidosis
Alias: Landing disease, Norman-Landing disease
Allelic: Hypospadias 1, XL (AR)
Allelic: Lopes-Maciel-Rodan syndrome (HTT)
Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
Allelic: Spinal muscular atrophy, Jokela type (CHCHD10
Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
Amyotrophic lateral sclerosis 8 (VAPB)
Androgen insensitivity (AR)
Androgen insensitivity, partial (AR)
Ceroid lipofuscinosis, neuronal, 13, Kufs type, AD (CTSF)
Ceroid lipofuscinosis, neuronal, 4A, Kufs type, (CLN6)
Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Essential tremor, hereditary, 4 (FUS)
Friedreich ataxia (FXN)
Friedreich ataxia with retained reflexes (FXN)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
GM1-gangliosidosis, type I (GLB1)
GM1-gangliosidosis, type II (GLB1)
GM1-gangliosidosis, type III (GLB1)
GM2-gangliosidosis, several forms (HEXA)
Hereditary motor and sensory neuropathy, Okinawa type (TFG)
Hex A pseudodeficiency (HEXA)
Huntington disease (HTT_CAG)
Mucopolysaccharidosis IVA (GALNS)
Mucopolysaccharidosis type IVB, Morquio (GLB1)
Parkinson disease 15, AR (FBXO7)
Parkinson disease 19a, juvenile-onset (DNAJC6)
Parkinson disease 19b, early-onset (DNAJC6)
Parkinson disease 23, AR, early onset (VPS13C)
Parkinson disease 6, early onset (PINK1)
Parkinson disease 7, AR early-onset (PARK7)
Parkinson disease, juvenile, type 2 (PRKN)
Sandhoff disease, infantile, juvenile + adult forms (HEXB)
Spastic paraplegia 57, AR (TFG)
Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
Spinal muscular atrophy, late-onset, Finkel type (VAPB)
Spinal muscular atrophy-1-4 (SMN1)
Tay-Sachs disease (HEXA)
Wilson disease (ATP7B)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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