PubMed:20558831 JSON TXT

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DisGeNET

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1637,"end":1643},"obj":"gene:1282"},{"id":"T1","span":{"begin":1709,"end":1725},"obj":"disease:C0948008"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.\nBACKGROUND AND PURPOSE: A number of single gene disorders can cause cerebral small vessel disease. Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.\nMETHODS: We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.\nRESULTS: We identified a total of 52 mutation carriers. A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction. Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49). Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy. Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%). Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers. Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography). Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7. Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).\nCONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds."}

PubmedHPO

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":300,"end":312},"obj":"HP_0002132"},{"id":"T2","span":{"begin":327,"end":338},"obj":"HP_0001269"}],"text":"COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.\nBACKGROUND AND PURPOSE: A number of single gene disorders can cause cerebral small vessel disease. Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.\nMETHODS: We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.\nRESULTS: We identified a total of 52 mutation carriers. A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction. Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49). Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy. Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%). Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers. Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography). Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7. Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).\nCONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds."}

DisGeNET5_gene_disease

DisGeNet-2017-sample

{"project":"DisGeNet-2017-sample","denotations":[{"id":"T2176","span":{"begin":209,"end":215},"obj":"gene:1282"},{"id":"T2177","span":{"begin":300,"end":312},"obj":"disease:C0151860"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T2176","obj":"T2177"},{"id":"R2","pred":"associated_with","subj":"T2176","obj":"T2177"},{"id":"R3","pred":"associated_with","subj":"T2176","obj":"T2177"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.\nBACKGROUND AND PURPOSE: A number of single gene disorders can cause cerebral small vessel disease. Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.\nMETHODS: We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.\nRESULTS: We identified a total of 52 mutation carriers. A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction. Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49). Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy. Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%). Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers. Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography). Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7. Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).\nCONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds."}

UBERON-AE

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":56,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":176,"end":182},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":408,"end":414},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":581,"end":587},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":1226,"end":1245},"obj":"http://purl.obolibrary.org/obo/UBERON_0014930"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":1568,"end":1571},"obj":"http://purl.obolibrary.org/obo/UBERON_0000970"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":1588,"end":1594},"obj":"http://purl.obolibrary.org/obo/UBERON_0002113"}],"text":"COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.\nBACKGROUND AND PURPOSE: A number of single gene disorders can cause cerebral small vessel disease. Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.\nMETHODS: We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.\nRESULTS: We identified a total of 52 mutation carriers. A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction. Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49). Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy. Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%). Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers. Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography). Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7. Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).\nCONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds."}

performance-test

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":1588,"end":1594},"obj":"http://purl.obolibrary.org/obo/UBERON_0002113"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":1083,"end":1088},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":56,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":176,"end":182},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":408,"end":414},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":581,"end":587},"obj":"http://purl.obolibrary.org/obo/UBERON_0000055"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":1226,"end":1245},"obj":"http://purl.obolibrary.org/obo/UBERON_0014930"},{"id":"PD-UBERON-AE-B_T8","span":{"begin":1255,"end":1264},"obj":"http://purl.obolibrary.org/obo/UBERON_2000106"},{"id":"PD-UBERON-AE-B_T9","span":{"begin":1568,"end":1571},"obj":"http://purl.obolibrary.org/obo/UBERON_0000970"}],"text":"COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.\nBACKGROUND AND PURPOSE: A number of single gene disorders can cause cerebral small vessel disease. Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.\nMETHODS: We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.\nRESULTS: We identified a total of 52 mutation carriers. A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction. Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49). Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy. Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%). Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers. Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography). Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7. Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).\nCONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds."}