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• Raine_syndrome abstract "Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteroclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis. It is considered to be a lethal disease, and usually leads to death within a few hours of birth. However, a recent report describes two studies in which children with Raine Syndrome have lived to 8 and 11 years old, so it is currently proposed that there is a milder expression that the phenotype can take (Simpson 2009).It was first characterized in 1989 in a report that was published on an infant that had been born with an unknown syndrome, that later came to be called Raine Syndrome.The current research describes Raine Syndrome as a neonatal osteosclerotic bone dysplasia, indicated by its osteosclerotic symptoms that are seen in those suffering from the disease. It has been found that a mutation in the gene FAM20C is the cause of the Raine Syndrome phenotype. This microdeletion mutation leads to an unusual chromosome 7 arrangement. The milder phenotypes of Raine Syndrome, such as those described in Simpson’s 2007 report, suggest that Raine Syndrome resulting from missense mutations may not be as lethal as the other described mutations (OMIM). This is supported by findings from Fradin et al (2011), who reported on children with missense mutations to FAM20C and lived to ages 1 and 4 years, relatively much longer than the life spans of the previously reported children. Simpson et al’s (2007) report states that to date, effected individuals have had chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion. They had abnormal chromosome 7 arrangements, with microdeletions of their D7S2477 and D7S1484 markers (Simpson 2007). Raine Syndrome appears to be an autosomal recessive disease. There are reports of recurrence in children born of the same parents, and an increased occurrence in children of closely related, genetically similar parents. Individuals with Raine Syndrome were either homozygous or compound heterozygous for the mutation of FAM20C. Also observed have been nonsynonomous mutation and splice-site changes (Simpson et al 2007). FAM20C, located on chromosome 7p22.3, is an important molecule in bone development. Studies in mice have demonstrated its importance in the mineralization of bones in teeth in early development (OMIM, Simpson et al 2007, Wang et al 2010). FAM20C stands for “family with sequence similarity 20, member C.” It is also commonly referred to as DMP-4. It is a Golgi-enriched fraction casein kinase and an extracellular serine/threonine protein kinase. It is 107,743 bases long, with 10 exons and 584 amino acids (Weizmann Institute of Science).".
• Raine_syndrome omim "259775".
• Raine_syndrome wikiPageExternalLink reference2.
• Raine_syndrome wikiPageExternalLink carddisp.pl?gene=FAM20C.
• Raine_syndrome wikiPageID "8104116".
• Raine_syndrome wikiPageRevisionID "592895864".
• Raine_syndrome hasPhotoCollection Raine_syndrome.
• Raine_syndrome name "Raine syndrome".
• Raine_syndrome omim "259775".
• Raine_syndrome wordnet_type synset-disease-noun-1.
• Raine_syndrome subject Category:Autosomal_recessive_disorders.
• Raine_syndrome subject Category:Congenital_disorders_of_musculoskeletal_system.
• Raine_syndrome subject Category:Rare_diseases.
• Raine_syndrome subject Category:Syndromes.
• Raine_syndrome type Abnormality114501726.
• Raine_syndrome type Abstraction100002137.
• Raine_syndrome type Anomaly114505821.
• Raine_syndrome type Attribute100024264.
• Raine_syndrome type AutosomalRecessiveDisorders.
• Raine_syndrome type BirthDefect114465048.
• Raine_syndrome type Cognition100023271.
• Raine_syndrome type Complex105870365.
• Raine_syndrome type Concept105835747.
• Raine_syndrome type Condition113920835.
• Raine_syndrome type CongenitalDisordersOfMusculoskeletalSystem.
• Raine_syndrome type Content105809192.
• Raine_syndrome type Defect114464005.
• Raine_syndrome type Disorder114052403.
• Raine_syndrome type Idea105833840.
• Raine_syndrome type Imperfection114462666.
• Raine_syndrome type PhysicalCondition114034177.
• Raine_syndrome type PsychologicalFeature100023100.
• Raine_syndrome type State100024720.
• Raine_syndrome type Syndrome105870790.
• Raine_syndrome type Syndromes.
• Raine_syndrome type Whole105869584.
• Raine_syndrome type Disease.
• Raine_syndrome type AilmentCondition.
• Raine_syndrome type Situation.
• Raine_syndrome comment "Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteroclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis. It is considered to be a lethal disease, and usually leads to death within a few hours of birth.".
• Raine_syndrome label "Raine syndrome".
• Raine_syndrome sameAs m.026rmq_.
• Raine_syndrome sameAs Q7284803.
• Raine_syndrome sameAs Q7284803.
• Raine_syndrome sameAs Raine_syndrome.
• Raine_syndrome wasDerivedFrom Raine_syndrome?oldid=592895864.
• Raine_syndrome isPrimaryTopicOf Raine_syndrome.
• Raine_syndrome name "Raine syndrome".