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ErkrankungLeukodystrophien, Beginn im Erwachsenenalter; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes panel für die Differentialdiagnostik der Leukodystrophien, Beginn im Erwachsenenalter, mir 14 Leitlinien-kuratierten und insgesamt 48 kuratierten Genen

ID
LP1223
Anzahl Gene
0 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

Keine Gene verlinkt

Infos zur Erkrankung

Synonyme
  • Alias: Leukodystrophies, adult
  • Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
  • Allelic: Hex A pseudodeficiency (HEXA)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • 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: Microcephaly 26, primary, AD (LMNB1)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Schizophrenia, susceptibility to (MTHFR1)
  • Allelic: Sialic acid storage disorder, infantile (SLC17A5)
  • Allelic: Thromboembolism, susceptibility to (MTHFR)
  • Allelic: Thrombosis, hyperhomocysteinemic (CBS)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Adrenoleukodystrophy; 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)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • CARASIL syndrome (HTRA1)
  • Canavan disease (ASPA)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • 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)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Combined SAP deficiency (PSAP)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Fucosidosis (FUCA1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galactosialidosis (CTSA)
  • Gaucher disease, atypical (PSAP)
  • Glutaricaciduria, type I (GCDH)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • L-2-hydroxyglutaric aciduria (L2HGDH syn. L2HGDA)
  • Leukodystrophy, adult-onset, AD (LMNB1)
  • Leukodystrophy, hypomyelinating, 10 (PICR2)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 12 (VPS11)
  • 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, 3 (AIMP1)
  • Leukodystrophy, hypomyelinating, 4 (HSPD1)
  • Leukodystrophy, hypomyelinating, 5 (FAM126A)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/or hypogonad. hypogonad. (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/or hypogonad. hypogonad. (POLR3B)
  • Leukodystrophy, hypomyelinating, 9 (RARS1)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem, spinal cord involvement, lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Mannosidosis, alpha-, types I + II (MAN2B1)
  • Megalencephalic leukoenceph., subcortical cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
  • Megalencephalic leukoencephalopathy, subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy, subcortical cysts 2A (HEPACAM)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
  • Mucolipidosis IV (MCOLN1)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Polyglucosan body disease, adult form (GBE1)
  • Salla disease (SLC17A5)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Tay-Sachs disease (HEXA)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E75.2

Bioinformatik und klinische Interpretation

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