ErkrankungAicardi-Goutières-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Aicardi-Goutières Syndrom mit 12 Leitlinien-kuratierten und 15 weiteren kuratierten Genen nach klinischer Verdachtsdiagnose
ID
AP0320
Anzahl Gene
27
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,9 kb (Core-/Basis-Gene)
42,7 kb (Erweitertes Panel)
42,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACP5 | 978 | AR | |
ADAR | 2796 | AD und/oder AR | |
DDX58 | 2778 | AD | |
IFIH1 | 3078 | AD | |
ISG15 | 498 | AR | |
OCLN | 1569 | AR | |
PSMB8 | 831 | AR und/oder Dig | |
RNASEH2A | 900 | AR | |
RNASEH2B | 939 | AR | |
RNASEH2C | 495 | AR | |
SAMHD1 | 1881 | AD und/oder AR und/oder Ass | |
STING1 | 1140 | AD | |
TREX1 | 945 | AD und/oder AR und/oder Ass | |
CTC1 | 3654 | AR | |
DKC1 | 1545 | XLR | |
EIF2B1 | 918 | AR | |
EIF2B2 | 1056 | AR | |
EIF2B3 | 1359 | AR | |
EIF2B4 | 1569 | AR | |
EIF2B5 | 2166 | AR | |
ERCC6 | 4482 | AD und/oder AR und/oder SMu und/oder Sus | |
ERCC8 | 1191 | AR und/oder Sus | |
GFAP | 1299 | AD | |
HEPACAM | 1251 | AD und/oder AR | |
MLC1 | 1134 | AR | |
PLP1 | 834 | XLR | |
TINF2 | 1356 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Subakute Enzephalopathie mit Basalganglien-Kalzifikation, Leukodystrophie + Liquor-Lymphozytose
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder SMu und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Sus
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G31.8-
Bioinformatik und klinische Interpretation
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