Klinische FragestellungWeiße Hirnsubstanz-Erkrankungen, im Erwachsenenalter; Differentialdiagnose

NGS +

• DD: Ausschlußkriterien: genetische/Umwelt-Ursache (Infektion, Hypoxie...) bekannt
• DD: Einschlußkriterien: MRI; Stoffwechseluntersuchungen abgeschlossen
• DD: andere Ursache phänotypisch ausgeschlossen (Cockayne Syndrom...)
• Alias: Inherited white matter disorders
• Alias: Leukodystrophie, erblich
• Alias: Leukodystrophy, adult onset
• Alias: Leukodystrophy, inherited
• Allelic. Sialic acid storage disorder, infantile (SLC17A5)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
• Allelic: Atrioventricular septal defect 3 (GJA1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2U (MARS)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
• Allelic: Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Chilblain lupus 2 (SAMHD1)
• Allelic: Craniometaphyseal dysplasia, AR (GJA1)
• Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Heimler syndrome 1 (PEX1)
• Allelic: Heimler syndrome 2 (PEX6)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Hyperphenylalaninemia, non-PKU mild (PAH)
• Allelic: Hypoplastic left heart syndrome 1 (GJA1)
• Allelic: Interstitial lung + liver disease (MARS)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Macular degeneration, age-related, 7 (HTRA1)
• Allelic: Macular dystrophy with central cone involvement (MFSD8)
• Allelic: Meningioma (PTEN)
• Allelic: Myoclonus, intractable, neonatal (KIF5A)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Neural tube defects, susceptibility to (MTHFR)
• Allelic: Oculodentodigital dysplasia (GJA1)
• Allelic: Oculodentodigital dysplasia, AR (GJA1)
• Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
• Allelic: Schizophrenia, susceptibility to (MTHFR)
• Allelic: Syndactyly, type III (GJA1)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Thrombosis, hyperhomocysteinemic (CBS)
• 3-methylglutaconic aciduria, type I (AUH)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASEH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Alexander disease (GFAP)
• Amyotrophic lateral sclerosis 5, juvenile (SPG11)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• Brain small vessel disease +/- ocular anomalies (COL4A1)
• Brain small vessel disease 2 (COL4A2)
• CARASIL syndrome (HTRA1)
• Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebral arteriopathy, AD, subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 13, Kufs type, AD (CTSF)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CLN6)
• Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Coffin-Lowry syndrome (RPS6KA3)
• Combined SAP deficiency (PSAP)
• Combined oxidative phosphorylation deficiency 12 (EARS2)
• Combined oxidative phosphorylation deficiency 8 (AARS2)
• Cowden syndrome 1 (PTEN)
• Dent disease 2 (OCRL)
• Developmental + epileptic encephalopathy 29 (AARS1)
• Dyschromatosis symmetrica hereditaria (ADAR)
• Dystonia 4, torsion, AD (TUBB4A)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Fucosidosis (FUCA1)
• GM1-gangliosidosis, type III (GLB1)
• GM2-gangliosidosis, several forms (HEXA)
• Galactosialidosis (CTSA)
• Gaucher disease, atypical (PSAP)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, types I, II, III, IIIC (GBA)
• Giant axonal neuropathy-1 (GAN)
• Glutaricaciduria, type I (GCDH)
• Glycogen storage disease IV (GBE1)
• HMG-CoA lyase deficiency (HMGCL)
• Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
• Hex A pseudodeficiency (HEXA)
• Homocystinuria due to MTHFR deficiency (MTHFR)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
• Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
• IRD (PEX1)
• Immunodeficiency 38 (ISG15)
• Intellectual developmental disorder, XL 19 (RPS6KA3)
• Krabbe disease (GALC)
• Krabbe disease, atypical (PSAP)
• L-2-hydroxyglutaric aciduria (L2HGDH)
• Leukodystrophy, adult-onset, AD (LMNB1)
• Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Leukodystrophy, hypomyelinating, 15 (EPRS1)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Leukodystrophy, hypomyelinating, 7 +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
• Leukodystrophy, hypomyelinating, 8, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
• Leukoencephalopathy with vanishing white matter (EIF2B1)
• Leukoencephalopathy with vanishing white matter (EIF2B2)
• Leukoencephalopathy with vanishing white matter (EIF2B3)
• Leukoencephalopathy with vanishing white matter (EIF2B4)
• Leukoencephalopathy with vanishing white matter (EIF2B5)
• Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Lewy body dementia, susceptibility to (GBA)
• Lhermitte-Duclos syndrome (PTEN)
• Lowe syndrome (OCRL)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Mannosidosis, beta (MANBA)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
• Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
• Megalencephalic leukoencephalopathy, subcortical cysts 2B, remitting +/- ment. retard. (HEPACAM)
• Metachromatic leukodystrophy (ARSA)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Microangiopathy and leukoencephalopathy, pontine, AD (COL4A1)
• Microcephaly 26, primary, AD (LMNB1)
• Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
• Mitochondrial DNA depletion syndrome 20, MNGIE type (LIG3)
• Mucolipidosis IV (MCOLN1)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Niemann-Pick disease, type C1 + D (NPC1)
• Niemann-Pick disease, type C2 (NPC2)
• Ovarioleukodystrophy (EIF2B2)
• Ovarioleukodystrophy (EIF2B4)
• Ovarioleukodystrophy (EIF2B5)
• Parkinson disease 24, AD, susceptibility to (PSAP)
• Parkinson disease, late-onset, susceptibility to (GBA)
• Pelizaeus-Merzbacher disease (PLP1)
• 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
• 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)
• Perrault syndrome 4 (LARS2)
• Phenylketonuria (PAH)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
• Polyglucosan body disease, adult form (GBE1)
• Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
• Refsum disease (PHYH)
• STING-associated vasculopathy, infantile-onset (STING1)
• Salla disease (SLC17A5)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Singleton-Merten syndrome 1 (IFIH1)
• Singleton-Merten syndrome 2 (DDX58)
• Sjogren-Larsson syndrome (ALDH3A2)
• Spastic paraplegia 10, AD (KIF5A)
• Spastic paraplegia 11, AR (SPG11)
• Spastic paraplegia 15, AR (ZFYVE26)
• Spastic paraplegia 2, XL (PLP1)
• Spastic paraplegia 35, AR (FA2H)
• Spastic paraplegia 44, AR (GJC2)
• Spondyloenchondrodysplasia with immune dysregulation (ACP5)
• Tay-Sachs disease (HEXA)
• Thromboembolism, susceptibility to (MTHFR)
• Treacher Collins syndrome 3 (POLR1C)
• Vasculopathy, retinal, cerebral leukoencephalopathy + systemic manifestations (TREX1)
• Wiedemann-Rautenstrauch syndrome (POLR3A)