About: Nestor-Guillermo progeria syndrome

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Nestor-Guillermo progeria syndrome is an extremely rare novel genetic disorder that is part of a group of syndromes called progeria. This disorder is characterized by the same symptoms of other progeria syndromes, which are premature aging with accompanying aged physical appearance, osteolysis, osteoporosis, scoliosis and lipoatrophy, however, what makes this disorder unique from other progeroid syndromes is the absence of any atherosclerotic, cardiovascular, and metabolic symptoms/complications, this makes the life-span of a person with NGPS somewhat longer than the average life-span of someone with progeria itself, although in place of the complications mentioned above, there's also additional symptoms, such as joint stiffness, growth retardation, facial dysmorphisms, wide cranial suture

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dbo:abstract
  • Nestor-Guillermo progeria syndrome is an extremely rare novel genetic disorder that is part of a group of syndromes called progeria. This disorder is characterized by the same symptoms of other progeria syndromes, which are premature aging with accompanying aged physical appearance, osteolysis, osteoporosis, scoliosis and lipoatrophy, however, what makes this disorder unique from other progeroid syndromes is the absence of any atherosclerotic, cardiovascular, and metabolic symptoms/complications, this makes the life-span of a person with NGPS somewhat longer than the average life-span of someone with progeria itself, although in place of the complications mentioned above, there's also additional symptoms, such as joint stiffness, growth retardation, facial dysmorphisms, wide cranial sutures, micrognathia, atrophic skin and a high risk of developing severe skeletal abnormalities This syndrome is caused by mutations in the BANF1 gene, in chromosome 11q13.1, and is inherited in an autosomal recessive pattern (en)
dbo:alias
  • NGPS, PSCOO, Progeria syndrome childhood-onset with osteolysis (en)
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  • 70697300 (xsd:integer)
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  • 7067 (xsd:nonNegativeInteger)
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  • 1086351061 (xsd:integer)
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dbp:causes
  • mutations in the BANF1 gene, in chromosome 11 (en)
dbp:name
  • Nestor-Guillermo progeria syndrome (en)
dbp:specialty
dbp:symptoms
  • premature aging (en)
dbp:synonyms
  • NGPS, PSCOO, Progeria syndrome childhood-onset with osteolysis (en)
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rdf:type
rdfs:comment
  • Nestor-Guillermo progeria syndrome is an extremely rare novel genetic disorder that is part of a group of syndromes called progeria. This disorder is characterized by the same symptoms of other progeria syndromes, which are premature aging with accompanying aged physical appearance, osteolysis, osteoporosis, scoliosis and lipoatrophy, however, what makes this disorder unique from other progeroid syndromes is the absence of any atherosclerotic, cardiovascular, and metabolic symptoms/complications, this makes the life-span of a person with NGPS somewhat longer than the average life-span of someone with progeria itself, although in place of the complications mentioned above, there's also additional symptoms, such as joint stiffness, growth retardation, facial dysmorphisms, wide cranial suture (en)
rdfs:label
  • Nestor-Guillermo progeria syndrome (en)
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