ErkrankungAicardi-Goutières-Syndrom, Differentialdiagnose

NGS +

Subakute Enzephalopathie mit Basalganglien-Kalzifikation, Leukodystrophie + Liquor-Lymphozytose

• Alias: Encephalopathy with basal ganglia calcification
• Alias: Encephalopathy with intracranial calcification + chron. lymphocytosis of cerebrospinal fluid
• Alias: Encephalopathy, familial infantile, intracranial calcification, chronic liquor lymphocytosis
• Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Chilblain lupus 2 (SAMHD1)
• Allelic: De Sanctis-Cacchione syndrome (ERCC6)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR1)
• Allelic: Lung cancer, susceptibility to (ERCC6)
• Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
• Allelic: Ovarioleukodystrophy (EIF2B2, EIF2B4, EIF2B5)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Spastic paraplegia 2, XL (PLP1)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: UV-sensitive syndrome 2 (ERCC8)
• Allelic: Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
• 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 (ADAR1)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Alexander disease (GFAP)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, XL; Hoyeraal-Hreidarsson syndrome (DKC1)
• Immunodeficiency 38 (ISG15)
• 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)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
• Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
• Megalencephalic leukoencephalopathy, subcort. cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
• Pelizaeus-Merzbacher disease (PLP1)
• Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
• Pseudo-TORCH syndrome 1 (OCLN)
• Revesz syndrome (TINF2)
• STING-associated vasculopathy, infantile-onset (STING1 syn. TMEM173)
• Singleton-Merten syndrome 1 (IFIH1)
• Singleton-Merten syndrome 2 (DDX58)
• Spondyloenchondrodysplasia with immune dysregulation (ACP5)