Literature DB >> 9415468

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

T Hasegawa1, Y Hasegawa, T Aso, S Koto, T Nagai, Y Tsuchiya, K C Kim, H Ohashi, K Wakui, Y Fukushima.   

Abstract

A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition "HDR syndrome." We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter-->p13 region.

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Year:  1997        PMID： 9415468     DOI： 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  24 in total

Review 1.  An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Authors:  P Lichtner; R König; T Hasegawa; H Van Esch; T Meitinger; S Schuffenhauer
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 2.  Genetic Disorders of Parathyroid Development and Function.

Authors:  Rebecca J Gordon; Michael A Levine
Journal:  Endocrinol Metab Clin North Am       Date:  2018-10-12       Impact factor: 4.741

3.  GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

Authors:  Zi-Yang Zhu; Qiao-Li Zhou; Shi-Ning Ni; Wei Gu
Journal:  World J Pediatr       Date:  2014-08-15       Impact factor: 2.764

4.  Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.

Authors:  R Hameed; F Raafat; P Ramani; G Gray; H P Roper; D V Milford
Journal:  Postgrad Med J       Date:  2001-08       Impact factor: 2.401

5.  Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.

Authors:  Alexis Chenouard; Bertrand Isidor; Emma Allain-Launay; Anne Moreau; Marc Le Bideau; Gwenaelle Roussey
Journal:  Eur J Pediatr       Date:  2012-10-05       Impact factor: 3.183

6.  Novel dominant-negative mutant of GATA3 in HDR syndrome.

Authors:  Masaaki Ohta; Minenori Eguchi-Ishimae; Mayumi Ohshima; Hidehiko Iwabuki; Koji Takemoto; Kikuko Murao; Toshiyuki Chisaka; Eiichi Yamamoto; Takashi Higaki; Keiichi Isoyama; Mariko Eguchi; Eiichi Ishii
Journal:  J Mol Med (Berl)       Date:  2010-12-01       Impact factor: 4.599

7.  A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers.

Authors:  Atsunori Yoshino; Shinya Kawamoto; Toshihiro Abe; Yuji Hidaka; Koji Muroya; Tadahiko Tokumoto; Tetsuro Takeda
Journal:  Pediatr Nephrol       Date:  2021-07-29       Impact factor: 3.714

8.  BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.

Authors:  Chunyan Li; Jianfang Zhang; Jia Li; Guyuan Qiao; Ying Zhan; Ying Xu; Hong Yang
Journal:  Mol Diagn Ther       Date:  2021-04-07       Impact factor: 4.074

9.  HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease.

Authors:  Mohsen Akhavan Sepahi; Behrouz Baraty; Fatemeh Khalifeh Shooshtary
Journal:  Iran J Pediatr       Date:  2010-03       Impact factor: 0.364

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

Authors:  Kelly Sheehan-Rooney; Mary E Swartz; Feng Zhao; Dong Liu; Johann K Eberhart
Journal:  Dis Model Mech       Date:  2013-05-29       Impact factor: 5.758
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