207600.1

Country

Bahrain

HPO Terms

Vasculitis; Paresthesia; Dysarthria; Lupus anticoagulant; Asthma; Migraine; Unilateral facial palsy; Hemiparesis; Absent ankle pulse; Carotid artery occlusion; Carotid artery stenosis; Mitral regurgitation; Tricuspid regurgitation; Aortic regurgitation

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Sex

Female

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_005957.4:c.665C>T	2	NA	Takayasu Arteritis
NM_005957.4:c.1286A>C	2	NA	Takayasu Arteritis
NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	2		Takayasu Arteritis

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Remarks

Patient is comorbid for Takayasu arteritis and primary antiphospholipid antibody syndrome. She had E3/E3 genotype of apolipoprotein E (Apo E) and her HLA Class I phenotype was: HLA A2-A24(9), HLA-B55(22)-B53 and HLA-Cw3-Cw6.

References

Al Jishi et al. 2005