Klinische FragestellungLeukodystrophie, hypomyelinisierende; Differentialdiagnose

NGS +

[Sanger]

LMNB1 Nur Deletions-/Duplikationsanalyse

Hypomyelinisierende Leukodystrophien: genetisch heterogene klinische Entität, bei der ein erhebliches dauerhaftes Defizit an Myelinablagerungen im Gehirn besteht, was zu neurologischen Defiziten führt

• Allelic: Angiopathy, hereditary, with nephropathy, aneurysms, muscle cramps (COL4A1)
• Allelic: Brain abnormalities, neurodegeneration, dysosteosclerosis (CSF1R)
• Allelic: Brain small vessel disease 2 (COL4A2)
• Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Allelic: Dystonia 4, torsion, AD (TUBB4A)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
• Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Ovarioleukodystrophy (EIF2B2)
• Allelic: PCWH syndrome (SOX10)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Spastic paraplegia 2, X-linked (PLP1)
• Allelic: Spastic paraplegia 44, AR (GJC2)
• Allelic: Treacher Collins syndrome 3 (POLR1C)
• Allelic: Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Allelic: Waardenburg syndrome, type 4C (SOX10)
• Allelic: Wiedemann-Rautenstrauch syndrome (POLR3A)
• Allan-Herndon-Dudley syndrome (SLC16A2)
• Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (NOTCH3)
• Hypomyelinisierende Leukenzephalopathie
• Leukodystrophy, adult-onset, AD (LMNB1)
• Leukodystrophy, hypomyelinating, 10 (PYCR2)
• Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Leukodystrophy, hypomyelinating, 12 (VPS11)
• Leukodystrophy, hypomyelinating, 13 (HIKESHI syn. C11orf73)
• Leukodystrophy, hypomyelinating, 13 (HIKESHI)
• Leukodystrophy, hypomyelinating, 14 (UFM1)
• Leukodystrophy, hypomyelinating, 15 (EPRS)
• Leukodystrophy, hypomyelinating, 16 (TMEM106B)
• Leukodystrophy, hypomyelinating, 17 (AIMP2)
• Leukodystrophy, hypomyelinating, 18 (DEGS1)
• Leukodystrophy, hypomyelinating, 19, transient infantile (TMEM63A)
• Leukodystrophy, hypomyelinating, 1; Pelizaeus-Merzbacher disease (PLP1)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 20 (CNP)
• Leukodystrophy, hypomyelinating, 21 (POLR3K)
• Leukodystrophy, hypomyelinating, 3 (AIMP1)
• Leukodystrophy, hypomyelinating, 4 (HSPD1)
• Leukodystrophy, hypomyelinating, 5 (FAM126A)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
• Leukodystrophy, hypomyelinating, 8 with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
• Leukodystrophy, hypomyelinating, 9 (RARS1)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with vanishing white matter (EIF2B1)
• Leukoencephalopathy with vanishing white matter (EIF2B2)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)