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Summary
PENDRED SYNDROME (PDS)
THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB THYROID HORMONE ORGANIFICATION DEFECT IIB DEAFNESS WITH GOITER GOITER-
274600
OMIM = Online Medalian Inheritance of Men
705
7q22.3
rare (7.5-10/100.000)
autosomal recessive
most common cause of syndromic deafness
symptoms
contractures, joints
ear anomalies (pits, creases)
edema
goiter
hearing defect, deafness
hypothyroidism
short stature
laboratory finding
Thyroid-stimulating hormone (TSH) increasedserum
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Scuderi C,et al.The in cis T251I and P587L POLG1 base changes: description of a new family and literature reviewNeuromuscul Disord254333-3392015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Sofou K,et al.Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.Mol Genet Genomic Med3159-682015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996