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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)
112,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTA21134AD und/oder Mult
ACVRL11512AD und/oder Mult
CCM21335AD
COL3A14401AD und/oder AR und/oder Mult
ENG1878AD und/oder Mult
KRIT12211AD
PDCD10639AD
RASA13144AD
SAMHD11881AD und/oder AR und/oder Ass
SLC2A101626AR
SMAD41659AD und/oder SMu und/oder Sus
ADA21536AR
ATR7935AD und/oder AR
CBL2721AD und/oder SMu
CEP1524965AR und/oder Dig
EPHB42964AD
FLVCR21581AR
GDF21290AD
GUCY1A32085AR
HBB444AD und/oder AR und/oder Mult
MRVI12803
  • Keine OMIM-Gs verknüpft
n.k.
MYH115919AD
NF18457AD und/oder SMu und/oder Sus
PCNT10011AR
PKD112912AD und/oder AR
PKD22907AD
RNF21315624AD und/oder AR und/oder Gen Fusion
SMAD91404AD
THSD12563AD
YY1AP12823AR

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)
  • 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
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G46.-*

Bioinformatik und klinische Interpretation

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