Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy.
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PMID:Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. 1503 80

Cutis Marmorata Telangiectatica Congenita (CMTC) is a congenital localized or generalized vascular anomaly, usually sporadic in occurrence. It can be associated with other cutaneous or systemic manifestations. About 300 cases have been reported. The molecular etiology remains largely unknown. The main purpose of this study is to delineate the molecular basis for a syndromic CMTC phenotype in a consanguineous Saudi family. Clinical phenotyping including detailed neurological imaging, followed by autozygosity mapping and trio whole exome sequencing (WES) are also studied. We have identified a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations. This gene was previously implicated by genome wide association study (GWAS) as a susceptibility locus to ischemic stroke in young adults. We identify ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. This suggests that ischemic stroke or transient ischemic attacks (TIA) may represent, at least in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive CMTC. This finding contributes to a growing appreciation of the continuum of Mendelian and common complex diseases.
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PMID:ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. 2595 86