Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the case of a 39-year-old male of mixed Black and Chinese Surinamese origin referred because of abdominal pain and extreme tiredness. The patient reported that he had received a single blood transfusion in his youth and presented at intake with a severe microcytic hypochromic anemia. A chest X-ray and computer tomography (CT)-scan revealed bilateral mediastinal lymphadenopathy and interstitial infiltrates. Elevated Hb F (80%) and an unbalanced synthesis ratio (beta/alpha = 0.18) were compatible with severe beta-thalassemia (thal) intermedia. DNA analysis revealed a double heterozygoty for the -88 (C-->T) and the IVS-II- 654 (C-->T) mutations in the presence of a homozygosity for the -alpha3.7 deletion. The two daughters of the proband were both heterozygous for the IVS-II-654 (C-->T) mutation and the -alpha3.7 deletion. The youngest daughter also carried the Hb G-Accra [beta73(E17)Asp-->Asn] mutation, inherited from the mother. Hb G-Accra, a mutant of presumed Ghanaian origin, described as non pathological in the carrier, is reported for the first time in combination with a severe fbeta(+)thal. The molecular background, haplotype of the mutations and a new A--> polymorphism at -309, 5' to the G(gamma) romoter, are reported.
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PMID:Adult onset of a Thalassemia intermedia genotype in association with a -alpha-3.7 homozygosity. Hb G-Accra [beta73(e17)Asp-->Asn] in combination with beta- and alpha-thalassemia in the same family. 1637 Apr 87

Familial amyloidoses are a group of inherited disorders that cause deposition of misfolded amyloidogenic proteins in various tissues, resulting in organ dysfunction. Point mutations in the coding region of seven different genes are known to cause clinically significant systemic amyloid disease. We describe a new mutation in exon 2 of the lysozyme gene associated with amyloidosis (ALys) in a 61-year-old woman with a 7-year history of non-bloody, watery diarrhea, and weight loss. Biopsies of the duodenum and stomach were positive for amyloid deposits in the lamina propria and blood vessels. Direct DNA sequencing of the lysozyme gene revealed a single base nucleotide transversion from T to A at the first position of codon 54, resulting in replacement of Tyr by Asn in the mature lysozyme protein (pTyr54Asn). Immunoblot analysis of amyloid fibrils extracted from a fat tissue sample confirmed lysozyme as the amyloid protein. Clinically, the phenotype associated with this lysozyme mutation featured chronic abdominal pain, diarrhea, weight loss, malabsorption, and sicca syndrome. There was no associated nephropathy as has been reported for other ALys mutations. We describe a new mutant lysozyme that presents with abdominal discomfort, diarrhea, weight loss, and sicca syndrome.
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PMID:A new lysozyme tyr54asn mutation causing amyloidosis in a family of Swedish ancestry with gastrointestinal symptoms. 2297 55