KEGG   DISEASE: Hypoparathyroidism with sensorineural deafness and renal dysplasia
Entry
H01271                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01271  Hypoparathyroidism with sensorineural deafness and renal dysplasia
Pathway
hsa04658  Th1 and Th2 cell differentiation
hsa04659  Th17 cell differentiation
hsa04928  Parathyroid hormone synthesis, secretion and action
Gene
GATA3 [HSA:2625] [KO:K17895]
Comment
DiGeorge syndrome is described in H01524. [DS:H01524]
Other DBs
ICD-11: LD27.0Y
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
Reference
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
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