Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0162871 (abdominal aortic aneurysm)
 8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The hereditary spastic paraplegias (HSPs or SPGs) are clinically and genetically highly heterogeneous neurodegenerative disorders mainly characterized by progressive spasticity and weakness in the lower limbs. The inheritance mode includes autosomal dominant(AD-HSP), autosomal recessive(AR-HSP) and X-linked recessive(XR-HSP). Thirty-five loci have been mapped with 17 disease-associated genes identified. SPG4 and SPG7 are the common subtypes in the AD-HSP and AR-HSP, respectively. The authors briefly review the function of spastin (SPG4) and paraplegin (SPG7), both of which belong to AAA ATPases family, and the recent progress of the study on the pathogenesis of HSPs.
 ...
PMID:[AAA ATPases and hereditary spastic paraplegia]. 1950 43

Occipital horn syndrome is a rare X-linked recessive connective tissue disorder caused by deficient copper transport. Our patient presented with abdominal pain, and a computed tomography scan demonstrated a 15-cm infrarenal abdominal aortic aneurysm and bilateral common iliac artery aneurysms. After discussion of surgical management, he wished to proceed with comfort measures only. We report the first known case of an abdominal aortic aneurysm in a patient with occipital horn syndrome.
 ...
PMID:Abdominal aortic aneurysm in a patient with occipital horn syndrome. 3172 30