Biomaterial Database

High prevalence of cerebral venous sinus thrombosis in seven Chinese patients with cystathionine β-synthase deficiency. 2020

Yan-Bin Wen, and Jun Chen, and Li-Jun Xiao, and Jie Feng, and Wen-Ping Gu

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.

UI	MeSH Term	Description	Entries
D002681	China	A country spanning from central Asia to the Pacific Ocean.	Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D003541	Cystathionine beta-Synthase	A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis it catalyzes the reaction of homocysteine with serine to form cystathionine with the elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and HOMOCYSTINURIA. EC 4.2.1.22.	Serine Sulfhydrase,beta-Thionase,Cystathionine Synthetase,Cystathionine beta Synthase,Sulfhydrase, Serine,Synthetase, Cystathionine,beta Thionase,beta-Synthase, Cystathionine
D006712	Homocystinuria	Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)	CBS Deficiency,Cystathionine beta-Synthase Deficiency Disease,Cystathionine Beta Synthase Deficiency,Deficiency Disease, Cystathionine beta-Synthase,CBS Deficiencies,Cystathionine beta Synthase Deficiency Disease,Deficiencies, CBS,Deficiency Disease, Cystathionine beta Synthase,Deficiency, CBS
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012851	Sinus Thrombosis, Intracranial	Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects.	Cranial Sinus Thrombosis,Intracranial Sinus Thrombophlebitis,Petrous Sinus Thrombosis,Sinus Thrombosis,Venous Sinus Thrombosis, Cranial,Petrous Sinus Thrombophlebitis,Cranial Sinus Thromboses,Intracranial Sinus Thrombophlebitides,Intracranial Sinus Thromboses,Intracranial Sinus Thrombosis,Petrous Sinus Thrombophlebitides,Petrous Sinus Thromboses,Sinus Thrombophlebitides, Intracranial,Sinus Thrombophlebitides, Petrous,Sinus Thrombophlebitis, Intracranial,Sinus Thrombophlebitis, Petrous,Sinus Thromboses,Sinus Thromboses, Cranial,Sinus Thromboses, Intracranial,Sinus Thromboses, Petrous,Sinus Thrombosis, Cranial,Sinus Thrombosis, Petrous,Thrombophlebitides, Intracranial Sinus,Thrombophlebitides, Petrous Sinus,Thrombophlebitis, Intracranial Sinus,Thrombophlebitis, Petrous Sinus,Thromboses, Cranial Sinus,Thromboses, Intracranial Sinus,Thromboses, Petrous Sinus,Thromboses, Sinus,Thrombosis, Cranial Sinus,Thrombosis, Intracranial Sinus,Thrombosis, Petrous Sinus,Thrombosis, Sinus
D015995	Prevalence	The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.	Period Prevalence,Point Prevalence,Period Prevalences,Point Prevalences,Prevalence, Period,Prevalence, Point,Prevalences