ErkrankungNeurodegeneration mit Eisenspeicherung im Gehirn; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neurodegeneration mit Eisenspeicherung im Gehirn, "NBIA", mit 12 bzw. 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP0710
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,7 kb (Core-/Basis-Gene)
24,0 kb (Erweitertes Panel)
24,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
Neurodegenerative Erkrankungen, gekennzeichnet durch progressive extrapyramidale Dysfunktion (Dystonie, Rigidität, Choreoathetose), Eisenansammlung im Gehirn + von axonalen Sphäroiden, die gewöhnlich auf das ZNS beschränkt sind
Synonyme
- Alias: Neurodegeneration with brain iron accumulation, NBIA
- Allelic: Acne inversa, familial, 3 (PSEN1)
- Allelic: Hyperostosis cranalis interna (SLC39A14)
- Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
- Alzheimer disease, type 3 (PSEN1)
- Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
- Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
- Cardiomyopathy, dilated, 1U (PSEN1)
- Cerebellar ataxia (CP)
- Choreoacanthocytosis (VPS13A)
- Dementia, frontotemporal (PSEN1)
- Dystonia 28, childhood-onset (KMT2B)
- Frontotemporal dementia +/or amyotrophic lateral sclerosis 3 (SQSTM1)
- Fucosidosis (FUCA1)
- Glutaricaciduria, type I (GCDH)
- HARP [Hyperprebetalipoproteinemia, Acanthocyt., Retinit. pigment., Pallidal degen.] syndrome (PANK2)
- Hemosiderosis, systemic, due to aceruloplasminemia (CP)
- Hyperferritinemia-cataract syndrome (FTL)
- Hypermanganesemia + dystonia 2 (SLC39A14)
- Hypoceruloplasminemia, hereditary (CP)
- Infantile neuroaxonal dystrophy 1 (PLA2G6)
- Kufor-Rakeb syndrome (ATP13A2)
- L-ferritin deficiency, AD + AR (FTL)
- Leukoencephalopathy with dystonia + motor neuropathy (SCP2)
- Mental retardation, XL 72 (RAB39B)
- NESCAV [NEurodeg., Spasticity +/- Cerebellar Atrophy or cortical Visual impairment] syndrome (KIF1A)
- Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
- Neurodegeneration with brain iron accumulation 1 (PANK2)
- Neurodegeneration with brain iron accumulation 2A, 2B (PLA2G6)
- Neurodegeneration with brain iron accumulation 3 (FTL)
- Neurodegeneration with brain iron accumulation 4 (C19orf12)
- Neurodegeneration with brain iron accumulation 5 (WDR45)
- Neurodegeneration with brain iron accumulation 6 (COASY)
- Neurodegeneration with brain iron accumulation 7 (REPS1)
- Neurodegeneration with brain iron accumulation 8 (CRAT)
- Neurodegeneration, childhood-onset, with brain atrophy (UBTF)
- Neuropathy, hereditary sensory, type IIC (KIF1A)
- Paget disease of bone 3 (SQSTM1)
- Parkinson disease 14, AR (PLA2G6)
- Pick disease (PSEN1)
- Pontocerebellar hypoplasia, type 12 (COASY)
- Spastic paraplegia 30, AD (KIF1A)
- Spastic paraplegia 30, AR (KIF1A)
- Spastic paraplegia 35, AR (FA2H)
- Spastic paraplegia 43, AR (C19orf12)
- Spastic paraplegia 78, AR (ATP13A2)
- Waisman syndrome (RAB39B)
- Woodhouse-Sakati syndrome (DCAF17)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AR
- XLD
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G31.8-
Bioinformatik und klinische Interpretation
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