Results 11 to 20 of about 1,253,968 (181)

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. [PDF]

J Clin Res Pediatr Endocrinol, 2015
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia.
Döneray H, Usui T, Kaya A, Dönmez AS.
europepmc   +5 more sources

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome [PDF]

Journal of Medical Genetics, 2001
We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineuraldeafness, andrenal dysplasia) (MIM 146255).
Tomonobu Hasegawa, Toshiro Nagai, Keiichi Yamamoto, Shinji Fujimoto, Koji Muroya, Yoshimitsu Fukushima, Yasuyoshi Iwata, Yoshiya Ito, Sotofumi Seishu, Haruhiko Isotani, Tsutomu Ogata, Yukihiro Hasegawa   +11 more
core   +3 more sources

GATA3 haplo-insufficiency causes human HDR syndrome.

Nature, 2000
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. Studies in patients with 10p deletions have defined two non-overlapping regions
Rolf Beetz, Nicholas J. Shaw, Hilde Van Esch, Peter Groenen, Rudolf W. Bilous, M. Andrew Nesbit, Koenraad Devriendt, Wim Van de Ven, Rajesh V. Thakker, Gert Vanderlinden, Brian Harding, Ian Holdaway, Simone Schuffenhauer, Jean-Pierre Fryns, Peter Lichtner   +14 more
core   +5 more sources

HDR syndrome: Large cohort and systematic review

Clinical Genetics
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews
Lyonnet, Stanislas, Loundon, Natalie, Mosnier, Isabelle, Le Gouard, Nicolas Rive, Brioude, Frédéric, Serey‐Gaut, Margaux, Jonard, Laurence, Heidet, Laurence, Lafond‐Rive, Valentin, Achard, S., Marlin, Sandrine   +10 more
core   +3 more sources

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

Chinese Medical Journal, 2017
Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature ...
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang   +15 more
doaj   +2 more sources

Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR)

Disease Models & Mechanisms, 2013
SUMMARY The severity of most human birth defects is highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability.
Kelly Sheehan-Rooney, Mary E. Swartz, Feng Zhao, Dong Liu, Johann K. Eberhart   +4 more
doaj   +2 more sources

A Case of HDR Syndrome Coexisting With Tetralogy of Fallot, With a Novel GATA3 Mutation, Which Manifested as a Renal Abscess [PDF]

CEN Case Reports, 2021
Yasuhisa Ohata, Keiichi Ozono, Kenji Ihara   +2 more
exaly   +2 more sources

Vitamin D deficiency in a patient with HDR syndrome. [PDF]

BMJ Case Rep, 2015
The case of a patient with clinical symptoms, laboratory and imaging findings of hypoparathyroidism, sensorineural deafness, renal dysplasia HDR, or Barakat syndrome (hypoparathyroidism, deafness, renal dysplasia), and vitamin D deficiency, is presented. A Caucasian man aged 51 years with a history of chronic hypocalcaemia since childhood, was admitted
Kostoglou-Athanassiou I, Stefanopoulos D, Karfi A, Athanassiou P.   +3 more
europepmc   +4 more sources

HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report. [PDF]

World J Clin Cases
BACKGROUND HDR syndrome is a rare genetic disease caused by variants in the GATA3 gene and is phenotypically defined by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). Renal disorders of HDR are mainly developmental abnormalities, although renal functional abnormalities can also be observed.
Ma LJ, Yang W, Zhang HW.
europepmc   +3 more sources

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation. [PDF]

Hum Genome Var, 2019
AbstractHDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.
Kusakawa M, Sato T, Hosoda A, Araki E, Matsuzaki Y, Yamashita Y, Ishihara J, Inagaki Y, Uchida N, Ishii T, Hasegawa T.   +10 more
europepmc   +4 more sources