Klinische FragestellungGehirngefäß-Fehlbildungen, Differentialdiagnose

NGS +

[Sanger]

Heterogene Gruppe von Erkrankungen

• 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)