ErkrankungGehirngefäß-Fehlbildungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gehirngefäß-Fehlbildungen mit 11 bzw. 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP7766
Anzahl Gene
30
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,5 kb (Core-/Basis-Gene)
112,3 kb (Erweitertes Panel)
112,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACTA2 | 1134 | AD und/oder Mult | |
ACVRL1 | 1512 | AD und/oder Mult | |
CCM2 | 1335 | AD | |
COL3A1 | 4401 | AD und/oder AR und/oder Mult | |
ENG | 1878 | AD und/oder Mult | |
KRIT1 | 2211 | AD | |
PDCD10 | 639 | AD | |
RASA1 | 3144 | AD | |
SAMHD1 | 1881 | AD und/oder AR und/oder Ass | |
SLC2A10 | 1626 | AR | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
ADA2 | 1536 | AR | |
ATR | 7935 | AD und/oder AR | |
CBL | 2721 | AD und/oder SMu | |
CEP152 | 4965 | AR und/oder Dig | |
EPHB4 | 2964 | AD | |
FLVCR2 | 1581 | AR | |
GDF2 | 1290 | AD | |
GUCY1A1 | 2085 | AR | |
HBB | 444 | AD und/oder AR und/oder Mult | |
IRAG1 | 2715 | - | |
MYH11 | 5919 | AD | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
PCNT | 10011 | AR | |
PKD1 | 12912 | AD und/oder AR | |
PKD2 | 2907 | AD | |
RNF213 | 15624 | AD und/oder AR und/oder Gen Fusion | |
SMAD9 | 1404 | AD | |
THSD1 | 2563 | AD | |
YY1AP1 | 2823 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Gruppe von Erkrankungen
Synonyme
- Alias: Grange occlusive arterial syndrome (YY1AP1)
- Allelic: Aortic aneurysm familial thoracic 6 (ACTA2)
- Allelic: Intellectual developmental disorder, speech delay, autism + dysmorphic facies (CNOT3)
- Allelic: Lymphatic malformation 7 (EPHB4)
- Allelic: Mental retardation, AD 23 (SETD5)
- Allelic: Microcephaly 9, primary, AR (CEP152)
- Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
- Allelic: Pulmonary arterial hypertension, hereditary (ACVRL1)
- Allelic: Pulmonary hypertension, primary, 2 (SMAD9)
- Aneurysm, intracranial berry, 12 (THSD1)
- Arterial tortuosity syndrome; "Moyamoya" (SLC2A10)
- Brain aneurysm [MONDO:0005291] (ANGPTL6)
- Capillary malformation-arteriovenous malformation (CCM2)
- Capillary malformation-arteriovenous malformation (RASA1)
- Capillary malformation-arteriovenous malformation 2 (EPHB4)
- Cavernous malformations of CNS + retina (KRIT1)
- Cerebral cavernous malformations 3 (PDCD10)
- Cerebral cavernous malformations-1 (KRIT1)
- Chilblain lupus 2; Aicardi-Goutieres syndrome 5; "Moyamoya" (SAMHD1)
- Cutaneous telangiectasia + cancer syndrome, familial (ATR)
- Early-onset "Moyamoya" angiopathy (CBL)
- Ehlers-Danlos syndrome, type IV (COL3A1)
- Grange syndrome (YY1AP1)
- Hyperkeratotic cutaneous capillary-venous malformations, cerebral capillary malformations (KRIT1)
- Intellectual disability-facial dysmorphism syndrome, haploinsufficiency [MONDO:00143369] (SETD5)
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Moyamoya disease (NF1)
- Moyamoya disease (PCNT)
- Moyamoya disease 2, susceptibility to (RNF213)
- Moyamoya disease 5 (ACTA2)
- Moyamoya disease 6 with achalasia (GUCY1A3)
- Moyamoya disease [MONDO:0016820] (CNOT3)
- Moyamoya disease [MONDO:0016820] (SETD5)
- Moyamoya-like angiopathy (MYH11)
- Parkes Weber syndrome (RASA1)
- Polycystic kidney disease 1 (PKD1)
- Polycystic kidney disease 2 (PKD2)
- Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
- Seckel syndrome 1 (ATR)
- Seckel syndrome 5 (CEP152)
- Sickle cell anemia (HBB)
- Sifrim-Hitz-Weiss syndrome (CHD4)
- Sneddon syndrome (ADA2)
- Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
- Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
- Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
- Vasculitis, autoinflammation, immunodeficiency, hematologic defects syndrome (ADA2)
Erbgänge, Vererbungsmuster etc.
- -
- AD
- AD und/oder AR
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder Gen Fusion
- AD und/oder AR und/oder Mult
- AD und/oder Mult
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AR
- AR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G46.-*
Bioinformatik und klinische Interpretation
Kein Text hinterlegt