Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man aged 42 years, presented with 3 years history of paraesthesias in hands and feet and muscle cramps off and on, progressing to severe carpopedal spasm, a couple of times, relieved by intravenous calcium gluconate at the emergency reception of the hospital. On examination, Trousseau's sign and Chvostek's sign were positive. Thyroid gland was not enlarged. Right eye showed mature cataract. Total serum calcium, corrected serum calcium, serum phosphate, ionized serum calcium, serum alkaline phosphatase, serum parathormone (PTH) level were deranged favouring hypoparathyroidism. He was diagnosed to be suffering from isolated primary hypoparathyroidism and put on alfacalcidol and oral calcium carbonate, with which he is asymptomatic now.
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PMID:Severe isolated primary hypoparathyroidism in an adult. 2133 45

Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome is an autosomal dominant genetic disease caused by COL4A1 gene mutation, with major clinical manifestations of white matter lesion, aneurysm, retinal artery tortuosity, polycystic kidney, microscopic hematuria and muscle cramps. This article reports the clinical features and genotype of one toddler with HANAC syndrome caused by COL4A1 gene mutation. The boy, aged 1 year and 8 months, had an insidious onset, with the clinical manifestations of pyrexia and convulsion, white matter lesions in the periventricular region and the centrum semiovale on both sides, softening lesions beside the left basal ganglia, retinal arteriosclerosis, microscopic hematuria and muscle cramps. Whole exome sequencing revealed a pathogenic de novo heterozygous mutation in the COL4A1 gene, (NM_001845) c.4150+1(IVS46)G>T, and therefore, the boy was diagnosed with HANAC syndrome. COL4A1 gene mutation detection should be performed for children with unexplained white matter lesion, stroke, hematuria, polycystic kidney, cataract and retinal artery tortuosity or families with related history.
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PMID:[Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome]. 3141 98