Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01275 (glucagon)
 26,492 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a girl with Johanson-Blizzard syndrome complicated by diabetes mellitus. She presented several characteristic malformations, such as aplasia of the alae nasi, deafness, dwarfism, absence of permanent teeth and malabsorption caused by disturbance of pancreatic exocrine function. At 11 years of age, glycosuria was detected at a routine outpatient examination. Repeated oral glucose tests showed a slowly progressive decline of insulin secretion and elevated blood glucose levels. The responsive secretion of insulin to glucagon or arginine loading was also low. The blood level of HbAlc was elevated over 9%. Based on these findings, insulin therapy was started when the patient was 13 years old. Our case suggests that diabetes mellitus might be considered as one of complications of Johanson-Blizzard syndrome.
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PMID:A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. 844 11

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia. Some endocrinological dysfunctions--growth hormone (GH) deficiency, hypothyroidism, and diabetes mellitus--are known to complicate this syndrome. We report here a Japanese infant with Johanson-Blizzard syndrome presenting with failure to thrive. Endocrinological examination by insulin-induced hypoglycemia showed not only the presence of GH deficiency, but also the loss of the glucagon secretion response to hypoglycemia. This complication suggests abnormal input of autonomic nerves to the islets of pancreas in Johanson-Blizzard syndrome.
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PMID:Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. 1537 29

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. Growth hormone deficiency, hypopituitarism, and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however, normal intelligence can occur. In the pancreas, there is a selective defect of acinar tissue, whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children, suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features, in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
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PMID:Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. 1905 15