H01271 | |
H number | H01271 |
Name | Hypoparathyroidism with sensorineural deafness and renal dysplasia; HDR syndrome; Barakat syndrome |
Description | Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. It has been reported that mutations in GATA3 cause HDR syndrome. |
Category | Congenital malformation |
Network | - |
Gene | GATA3 [HSA:2625] [KO:K17895] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | DiGeorge syndrome is described in H01524. [DS:H01524] |
Other DBs | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C537907 OMIM: 146255 |
Reference | PMID:11389161 AUTHORS Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T TITLE GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. JOURNAL J Med Genet 38:374-80 (2001) DOI:10.1136/jmg.38.6.374 PMID:10935639 AUTHORS Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K TITLE GATA3 haplo-insufficiency causes human HDR syndrome. JOURNAL Nature 406:419-22 (2000) DOI:10.1038/35019088 |