ErkrankungFukuyama kongenitale Muskeldystrophie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Fukuyama kongenitale Muskeldystrophie, Differentialdiagnose mit zusammen genommen 16 kuratierten Genen gemäß klinischem Verdacht

FP9438

Anzahl Gene

13 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,4 kb (Core-/Basis-Gene)
22,4 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
FKTN	1386	607440	AR
B3GALNT2	1503	610194	AR
B4GAT1	1248	605517	AR
CRPPA	1356	614631	AR
DAG1	2688	128239	AR
FKRP	1488	606596	AR
GMPPB	1164	615320	AR
LARGE1	2271	603590	AR
POMGNT1	1983	606822	AR
POMGNT2	1743	614828	AR
POMK	1053	615247	AR
POMT1	2244	607423	AR
POMT2	2253	607439	AR

Infos zur Erkrankung

Synonyme

Allelic: Cardiomyopathy, dilated, 1A (LMNA)
Allelic: Cardiomyopathy, dilated, 1X (FKTN)
Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
Allelic: Dilated cardiomyopathy (FKTN)
Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
Allelic: Heart-hand syndrome, Slovenian type (LMNA)
Allelic: Hutchinson-Gilford progeria (LMNA)
Allelic: Limb-girdle muscular dystrophy type 2M (FKTN)
Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
Allelic: Malouf syndrome (LMNA)
Allelic: Mandibuloacral dysplasia (LMNA)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 12 (POMK)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 8 (POMGNT2)
Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
Allelic: Restrictive dermopathy, lethal (LMNA)
Allelic: Retinitis pigmentosa 76 (POMGNT1)
Allelic: Walker-Warburg syndrome (FKTN)
Muscular dystrophy, congenital (FKTN)
Muscular dystrophy, rigid spine, 1 (SELENON)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 10 (RXYLT1)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 12 (POMK)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 8 (POMGNT2)
Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 1 (POMT1)
Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retardation], type B, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy [cong. without mental retardation], type B, 4 (FKTN)
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
Myopathy, congenital, with fiber-type disproportion (SELENON)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G71.-

Bioinformatik und klinische Interpretation

Kein Text hinterlegt