Details of Disease

General Information of Disease (ID: DISRCBP9)

Disease Name Hypoparathyroidism-deafness-renal disease syndrome
Synonyms
hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome; hypoparathyroidism, sensorineural deafness, and renal dysplasia; nephrosis, nerve deafness, and hypoparathyroidism; HDR; Barakat syndrome; Barakat Syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease; hypoparathyroidism-deafness-renal disease syndrome; hypoparathyroidism, deafness, and renal anomalies syndrome
Definition The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.
Disease Hierarchy
DISET3W3: Partial deletion of the short arm of chromosome 10
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISRCBP9: Hypoparathyroidism-deafness-renal disease syndrome
Disease Identifiers
MONDO ID
MONDO_0007797
MESH ID
C537907
UMLS CUI
C1840333
OMIM ID
146255
MedGen ID
374443
Orphanet ID
2237
SNOMED CT ID
724282009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GATA3 TT45KOB Definitive Autosomal dominant [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCM2 OTSKNPTI moderate Biomarker [2]
QRSL1 OTJDU2UG Strong Altered Expression [3]
GATA3 OTGP7D5Y Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Gata3 cooperates with Gcm2 and MafB to activate parathyroid hormone gene expression by interacting with SP1.Mol Cell Endocrinol. 2015 Aug 15;411:113-20. doi: 10.1016/j.mce.2015.04.018. Epub 2015 Apr 24.
3 Identification of a novel insertion mutation in GATA3 with HDR syndrome.Clin Exp Nephrol. 2005 Mar;9(1):58-61. doi: 10.1007/s10157-004-0327-6.