Klinische FragestellungWeiße Hirnsubstanz-Erkrankungen, Beginn im Kindesalter

NGS +

• DD: Ausschlußkriterien: genetische/Umwelt-Ursache (Infektion, Hypoxie...) bekannt
• DD: Einschlußkriterien: MRI; Stoffwechseluntersuchungen abgeschlossen
• DD: andere Ursache phänotypisch ausgeschlossen (Cockayne Syndrom...)
• Alias: Leukodystrophie, erblich
• Alias: Leukodystrophy, inherited
• Allelic: 5-fluorouracil toxicity (DPYD)
• Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Allelic: Atrioventricular septal defect 3 (GJA1)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Charcot-Marie-Tooth disease, RI, B (KARS1)
• Allelic: Charcot-Marie-Tooth disease, type 4K (SURF1)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Chilblain lupus 2 (SAMHD1)
• Allelic: Combined oxidative phosphorylation deficiency 25 (MARS2)
• Allelic: Deafness, AR 89 (KARS1)
• 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: Erythrokeratodermia variabilis et progressiva (GJA1)
• Allelic: Fabry disease, cardiac variant (GLA)
• Allelic: Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
• Allelic: Gastrointestinal stromal tumor (SDHB)
• Allelic: Gaucher disease, perinatal lethal (GBA)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A2)
• Allelic: Hypoplastic left heart syndrome 1 (GJA1)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Lung cancer, susceptibility to (ERCC6)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Macular degeneration, age-related, 7 (HTRA1)
• Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
• Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
• Allelic: Macular dystrophy with central cone involvement (MFSD8)
• Allelic: Mitochondrial DNA depletion syndrome 16, hepatic type (POLG2)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Myopia 6 (SCO2)
• Allelic: Oculodentodigital dysplasia (GJA1)
• Allelic: Oculodentodigital dysplasia, AR (GJA1)
• Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
• Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
• Allelic: Paragangliomas 4 (SDHB)
• Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Perrault syndrome 1 (HSD17B4)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Pheochromocytoma (SDHB)
• Allelic: Portal hypertension, noncirrhotic, 1 (DGUOK)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Progressive external ophthalmoplegia, AD (POLG)
• Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Syndactyly, type III (GJA1)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Tremor, hereditary essential, 6 (NOTCH2NLC)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• 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)
• Allan-Herndon-Dudley syndrome (SLC16A2)
• Aphasia, primary progressive (GRN)
• Bjornstad syndrome (BCS1L)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• Brain small vessel disease 2 (COL4A2)
• Brain small vessel disease 3 (COLGALT1)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• CARASIL syndrome (HTRA1)
• Canavan disease (ASPA)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 11 (GRN)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 4, Kufs type, AD (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6A (CLN6)
• Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
• Chromosome 5q14.3 deletion syndrome (MEF2C)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Coenzyme Q10 deficiency, primary, 1 (COQ2)
• Coenzyme Q10 deficiency, primary, 4 (COQ8A)
• Combined SAP deficiency (PSAP)
• Combined oxidative phosphorylation deficiency 1 (GFM1)
• Combined oxidative phosphorylation deficiency 12 (EARS2)
• Combined oxidative phosphorylation deficiency 15 (MTFMT)
• Combined oxidative phosphorylation deficiency 8 (AARS2)
• Congenital disorder of glycosylation, type IIt (GALNT2)
• Craniometaphyseal dysplasia, AR (GJA1)
• D-2-hydroxyglutaric aciduria (D2HGDH)
• D-bifunctional protein deficiency (HSD17B4)
• De Sanctis-Cacchione syndrome (ERCC6)
• Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
• Deafness, dystonia + cerebral hypomyelination (BCAP31)
• Developmental + epileptic encephalopathy 39 (SLC25A12)
• Dihydropyrimidine dehydrogenase deficiency (DPYD)
• Dyschromatosis symmetrica hereditaria (ADAR)
• Dystonia 32 (VPS11)
• Dystonia 4, torsion, AD (TUBB4A)
• Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (NAXE)
• Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
• Fabry disease (GLA)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• Fucosidosis (FUCA1)
• GM1-gangliosidosis, type I, II, III (GLB1)
• GM2-gangliosidosis, several forms (HEXA)
• GRACILE syndrome (BCS1L)
• Gaucher disease, atypical (PSAP)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Giant axonal neuropathy-1 (GAN)
• Glutaric acidemia IIC (ETFDH)
• Glutaricaciduria, type I (GCDH)
• Glycogen storage disease IV (GBE1)
• HMG-CoA lyase deficiency (HMGCL)
• Hex A pseudodeficiency (HEXA)
• Homocystinuria due to MTHFR deficiency (MTHFR)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Hyperaldosteronism, familial, type II (CLCN2)
• Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
• Immunodeficiency 38 (ISG15)
• Intellectual developmental disorder, AD 21 (CTCF)
• Krabbe disease (GALC)
• Krabbe disease, atypical (PSAP)
• L-2-hydroxyglutaric aciduria (L2HGA)
• L-2-hydroxyglutaric aciduria (L2HGDH)
• Lateral meningocele syndrome (NOTCH3)
• Lethal congenital contracture syndrome 7 (CNTNAP1)
• Leukodystrophy, adult-onset, AD (LMNB1)
• Leukodystrophy, hypomyelinating, 10 (PYCR2)
• Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Leukodystrophy, hypomyelinating, 12 (VPS11)
• Leukodystrophy, hypomyelinating, 16 (TMEM106B)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 3 (AIMP1)
• Leukodystrophy, hypomyelinating, 4 (HSPD1)
• Leukodystrophy, hypomyelinating, 5 (FAM126A)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Leukodystrophy, hypomyelinating, 7, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
• Leukodystrophy, hypomyelinating, 8, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
• Leukodystrophy, hypomyelinating, 9 (RARS1)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
• Leukoencephalopathy with dystonia + motor neuropathy (SCP2)
• 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, cerebellar atrophy, mtDNA depletion [panelapp] (LIG3)
• Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
• Leukoencephalopathy, developmental delay, episodic neurologic regression syndrome (EIF2AK2)
• Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
• Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
• Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly 5 (LAMB1)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Mannosidosis, beta (MANBA)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
• Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
• Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, +/- MR (HEPACAM)
• Mental retardation, Ad 45 (CIC)
• Metachromatic leukodystrophy (ARSA)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Microcephaly 26, primary, AD (LMNB1)
• Mitchell syndrome (ACOX1)
• Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
• Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, AD (SLC25A4)
• Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, AR (SLC25A4)
• Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
• Mitochondrial DNA depletion syndrome 3, hepatocerebral type (DGUOK)
• Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
• Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
• Mitochondrial DNA depletion syndrome 5, encephalomyopathic +/- methylmalonic aciduria (SUCLA2)
• Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
• Mitochondrial DNA depletion syndrome 8A, encephalomyopathic type with renal tubulopathy (RRM2B)
• Mitochondrial DNA depletion syndrome 8B (MNGIE type (RRM2B)
• Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
• Mitochondrial complex I deficiency, nuclear type 11 (NDUFAF1)
• Mitochondrial complex I deficiency, nuclear type 13 (NDUFA2)
• Mitochondrial complex I deficiency, nuclear type 18 (NDUFAF3)
• Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
• Mitochondrial complex I deficiency, nuclear type 21 (NUPBL)
• Mitochondrial complex I deficiency, nuclear type 27 (MTFMT)
• Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7)
• Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1)
• Mitochondrial complex I deficiency, nuclear type 5 (NDUFS1)
• Mitochondrial complex I deficiency, nuclear type 6 (NDUFS2)
• Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Mitochondrial complex II deficiency, nuclear type 2 (SDHAF1)
• Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
• Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
• Mitochondrial complex III deficiency, nuclear type 8 (LYRM7)
• Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
• Mitochondrial complex IV deficiency, nuclear type 17 (COA8)
• Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Mitochondrial complex IV deficiency, nuclear type 3 (COX10)
• Mitochondrial complex IV deficiency, nuclear type 4 (SCO1)
• Mitochondrial complex IV deficiency, nuclear type 6 (COX15)
• Mitochondrial complex IV deficiency, nuclear type 8 (TACO1)
• Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
• Mucolipidosis IV (MCOLN1)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (BOLA3)
• Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
• Multiple mitochondrial dysfunctions syndrome 4 (ISCA2)
• Multiple sulfatase deficiency (SUMF1)
• Multiple system atrophy, susceptibility to (COQ2)
• Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
• Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
• Neurodevelopmental disorder with hypotonia, stereotypic hand movements, impaired language (MEF2C)
• Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
• Neuronal intranuclear inclusion disease (NOTCH2NLC)
• Niemann-Pick disease, type C1 + D (NPC1)
• Niemann-Pick disease, type C2 (NPC2)
• Oculopharyngodistal myopathy 3 (NOTCH2NLC)
• Ovarioleukodystrophy (EI2B2, EIF2B5)
• PCWH syndrome (SOX10)
• Paragangliomas 5 (SDHA)
• Pelizaeus-Merzbacher disease (PLP1)
• Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
• Peroxisome biogenesis disorders (PEX1, -10, -12, -13, -16, -2, -26, -3, -5, -6)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
• Polyglucosan body disease, adult form (GBE1)
• Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
• Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
• Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
• Refsum disease (PHYH)
• Retinal dystrophy with leukodystrophy (ABCD5)
• Salla disease (SLC17A5)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Sialic acid storage disorder, infantile (SLC17A5)
• Singleton-Merten syndrome 1 (IFIH1)
• Singleton-Merten syndrome 2 (DDX58)
• Sjogren-Larsson syndrome (ALDH3A2)
• Spastic ataxia 3, AR (MARS2)
• Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
• Spastic paraplegia 13, AD (HSPD1)
• Spastic paraplegia 2, XL (PLP1)
• Spastic paraplegia 35, AR (FA2H)
• Spastic paraplegia 44, AR (GJC2)
• Spastic paraplegia 74, AR (IBA57)
• Spastic paraplegia 84, AR (PI4KA)
• Spondyloenchondrodysplasia with immune dysregulation (ACP5)
• Subcortical laminar heterotopia (PAFAH1B1)
• Tay-Sachs disease (HEXA)
• Thrombosis, hyperhomocysteinemic (CBS)
• Treacher Collins syndrome 3 (POLR1C)
• Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
• Troyer syndrome (SPART)
• UV-sensitive syndrome 2 (ERCC8)
• Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 4C (SOX10)
• Wiedemann-Rautenstrauch syndrome (POLR3A)