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Summary
HYPOPARATHYROIDISM, FAMILIAL ISOLATED FIH
HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
146200
OMIM = Online Medalian Inheritance of Men
2238
6p24.2, 11p15.3
rare
autosomal dominant
symptoms
cataract
cerebral calcifications
muscle weakness
myopathy
seizures
Teeth: generalized defect or abnormalities
tetany
laboratory finding
Calcium decreasedserum
Phosphate decreasedserum
Parathyroid hormone (PTH) decreased or undetectableserum
Literature
Roscher A,et al.The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in CanadaMol Genet Metab1133171-1762014
Wu PL,et al.Infantile form of muscle phosphofructokinase deficiency in a premature neonatePediatr Int574746-7492015
Davit-Spraul A,et al.Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studiesMol Genet Metab1041137-1432011