Klinische FragestellungMikrozephalie mit Muskelschwäche, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein panel mit 25 Leitlinien-kuratierten Genen zur umfassenden Untersuchung der Verdachtsdiagnose Mikrozephalie mit Muskelschwäche
ID
MP1221
Anzahl Gene
2
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
4,3 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
Kongenitale Muskeldystrophie aufgrund von Dystroglykanopathie mit früh einsetzender Muskeldystrophie, schwere Muskelhypotonie, schwere mentale Retardierung, typische Hirn- + Augenfehlbildungen, Pachygyrien, Polymikrogyrien, Agyrien, Hirnstamm, zerebellare Strukturanomalien, schwere Myopie, Glaukom, Sehnerv, Netzhauthypoplasie; Krampfanfälle, Mikro- (oder Makro) zephalie, Mikrophthalmie, angeborene Kontrakturen. Weniger schwere Fälle kommen vor- je nach Schweregrad eingeschränkte motorische Funktion
Synonyme
- Alias: Fukuyama congenital muscular dystrophy (FKTN)
- Alias: Infantile Refsum disease
- Alias: Muscle-eye-brain disease
- Alias: Muscle-eye-brain syndrome
- Alias: Muscular dystrophy-dystroglycanopathy, congenital with brain, eye anomalies
- Alias: Neonatal adrenoleukodystrophy
- Alias: Peroxisomal biogenesis disturbances
- Alias: Peroxisome biogenesis disorder spectrum
- Alias: Santavuori congenital muscular dystrophy (POMGNT1)
- Alias: Walker-Warburg syndrome (POMT1)
- Alias: Zellweger spectrum disorder
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 6 (LARGE1)
- Allelic: Muscular dystrophy-dystroglycanopathy, congen. with/-out mental retard., type B, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy, congen. without mental retard., type B, 4 (FKTN)
- 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, 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: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
- Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
- Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
- Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
- Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 1 (POMT)
- Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (POMT)
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 10 (TMEM5)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 8 (POMGNT2)
- Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
- Peroxisome biogenesis disorder 10B (PEX3)
- Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
- Peroxisome biogenesis disorder 11B (PEX13)
- Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
- Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
- Peroxisome biogenesis disorder 14B (PEX11B)
- Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
- Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
- Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
- Peroxisome biogenesis disorder 2B (PEX5)
- Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
- Peroxisome biogenesis disorder 3B (PEX12)
- Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
- Peroxisome biogenesis disorder 4B (PEX6)
- Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
- Peroxisome biogenesis disorder 5B (PEX2)
- Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
- Peroxisome biogenesis disorder 6B (PEX10)
- Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
- Peroxisome biogenesis disorder 7B (PEX26)
- Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
- Peroxisome biogenesis disorder 8B (PEX16)
- Peroxisome biogenesis disorder 9B (PEX7)
Erbgänge, Vererbungsmuster etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatik und klinische Interpretation
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