Klinische FragestellungWeiße Hirnsubstanz-Erkrankungen, im Erwachsenenalter; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Weiße-Hirnsubstanz-Erkrankungen, Beginn im Erwachsenenalter, mit 80 Leitlinien-kuratierten und insgesamt 115 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP5858
Anzahl Gene
110
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
137,3 kb (Core-/Core-canditate-Gene)
199,9 kb (Erweitertes Panel: inkl. additional genes)
199,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AARS2 | 2958 | AR | |
ABCD1 | 2238 | XLR | |
ACP5 | 978 | AR | |
ADAR | 2796 | AD, AR | |
ALDH3A2 | 1458 | AR | |
ARSA | 1530 | AR | |
AUH | 1020 | AR | |
CBS | 1656 | AR | |
CLCN2 | 2697 | AR | |
CLN3 | 1317 | AR | |
CLN5 | 1077 | AR | |
CLN6 | 936 | AR | |
CLN8 | 861 | AR | |
COA8 | 797 | AD | |
COL4A1 | 5010 | AD, Mult | |
COL4A2 | 5139 | AD | |
CSF1R | 2919 | AD | |
CTSD | 1239 | AR | |
CTSF | 1455 | AR | |
CYP27A1 | 1596 | AR | |
DARS2 | 1938 | AR | |
DDX58 | 2778 | AD | |
DNAJC5 | 597 | AD | |
EIF2B1 | 918 | AR | |
EIF2B2 | 1056 | AR | |
EIF2B3 | 1359 | AR | |
EIF2B4 | 1569 | AR | |
EIF2B5 | 2166 | AR | |
FA2H | 1119 | AR | |
FUCA1 | 1401 | AR | |
GALC | 2058 | AR | |
GAN | 1794 | AR | |
GBA1 | 1611 | AD, AR | |
GBE1 | 2109 | AR | |
GCDH | 1317 | AR | |
GFAP | 1299 | AD | |
GJA1 | 1149 | AD, AR | |
GJC2 | 1320 | AR | |
GLA | 1290 | XL, Mult | |
GLB1 | 2034 | AR | |
GRN | 1782 | AD | |
HEPACAM | 1251 | AD, AR | |
HEXA | 1590 | AR | |
HEXB | 1671 | AR | |
HMGCL | 978 | AR | |
HTRA1 | 1443 | AD, AR | |
IFIH1 | 3078 | AD | |
ISG15 | 498 | AR | |
KARS1 | 1940 | AR | |
KCTD7 | 870 | AR | |
L2HGDH | 1392 | AR | |
LMNB1 | 1761 | AD | |
MAN2B1 | 3036 | AR | |
MANBA | 2640 | AR | |
MARS2 | 1782 | AR | |
MCOLN1 | 1743 | AR | |
MFSD8 | 1557 | AR | |
MLC1 | 1134 | AR | |
MTHFR | 1971 | AR | |
NOTCH3 | 6966 | AD | |
NPC1 | 3837 | AR | |
NPC2 | 456 | AR | |
PEX7 | 972 | AR | |
PHYH | 1017 | AR | |
PLP1 | 834 | XLR | |
POLR1C | 1041 | AR | |
POLR3A | 4173 | AR | |
POLR3B | 3402 | AR | |
PPT1 | 921 | AD | |
PSMB8 | 831 | AR, digenisch | |
RNASEH2A | 900 | AR | |
RNASEH2B | 939 | AR | |
RNASEH2C | 495 | AR | |
SAMHD1 | 1881 | AR | |
SLC17A5 | 1488 | AR | |
STING1 | 1219 | AD | |
TREM2 | 660 | AR | |
TREX1 | 945 | AD, AR | |
TUBB4A | 1335 | AD | |
TYROBP | 309 | AR, digenisch | |
AARS1 | 2927 | AD | |
CTC1 | 3654 | AR | |
CTSA | 1497 | AR | |
DARS1 | 1506 | AR | |
EARS2 | 1572 | AR | |
GJB1 | 852 | XLD | |
MARS1 | 2703 | AD | |
OCRL | 2706 | XLR | |
PAH | 1359 | AR | |
PEX1 | 3852 | AR | |
PEX10 | 1041 | AR | |
PEX11B | 780 | AR | |
PEX12 | 1080 | AR | |
PEX13 | 1212 | AR | |
PEX14 | 1134 | AR | |
PEX16 | 1011 | AR | |
PEX19 | 900 | AR | |
PEX2 | 918 | AR | |
PEX26 | 918 | AR | |
PEX3 | 1122 | AR | |
PEX5 | 1920 | AR | |
PEX6 | 2943 | AD, AR | |
PSAP | 1575 | AR | |
PTEN | 1212 | AD | |
RNASET2 | 771 | AR | |
RNF216 | 2772 | AR | |
RPS6KA3 | 2223 | XLD | |
SPG11 | 7332 | AR | |
TYMP | 1449 | AR | |
ZFYVE26 | 7620 | AR |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Mult
- XL
- XLD
- XLR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
A81.2
Bioinformatik und klinische Interpretation
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