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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACP5978AR
ADAR2796AD und/oder AR
DDX582778AD
IFIH13078AD
ISG15498AR
OCLN1569AR
PSMB8831AR und/oder Dig
RNASEH2A900AR
RNASEH2B939AR
RNASEH2C495AR
SAMHD11881AD und/oder AR und/oder Ass
STING11140AD
TREX1945AD und/oder AR und/oder Ass
CTC13654AR
DKC11545XLR
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
GFAP1299AD
HEPACAM1251AD und/oder AR
MLC11134AR
PLP1834XLR
TINF21356AD

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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