HDR-Syndrom 146255
Familien-stammbaum
Diagnose-strategie
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Changelanguage
Klinik:
Definition: Das HDR-Syndrom ist durch Hypoparathyreoidismus, Innenohrschwerhörigkeit und Nierendysplasie gekennzeichnet, sie beruht auf Mutationen des GATA3-Gens, und die Vererbund ist autosomal dominant.
Systematische Aufstellung weiterführender Links:
Literatur:
Barakat AY et al. (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism. Bernardini L et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. Bilous RW et al. (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene. Fujimoto S et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Hasegawa T et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Hernández AM et al. (2007) Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. Lichtner P et al. (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Moldovan O et al. (2011) A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al. Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. Shaw NJ et al. (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome. Van Esch H et al. (1999) Partial DiGeorge syndrome in two patients with a 10p rearrangement. Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.
