Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

HDR syndrome is an autosomal dominant disorder causeb by mutations of the GATA3 gene. The clinical features include hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Symptoms

Deafness
Sensorineural deafness may occur with GATA3 mutations.

Systematic

Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
Kenny-Caffey syndrome
PTH

References:

1.

Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.

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2.

Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

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3.

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.

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4.

Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.

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5.

Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.

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6.

Van Esch H et al. (1999) Partial DiGeorge syndrome in two patients with a 10p rearrangement.

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7.

Fujimoto S et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.

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8.

Lichtner P et al. (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

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9.

Bilous RW et al. (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.

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10.

Shaw NJ et al. (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

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11.

Bernardini L et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.

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12.

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.

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13.

Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

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14.

Barakat AY et al. (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism.

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15.

Hasegawa T et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

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16.

OMIM.ORG article

Omim 146255 [^]
Update: May 9, 2019