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Hypoparathyroidism, deafness, renal disease syndrome(HDRS)

MedGen UID:
374443
Concept ID:
C1840333
Disease or Syndrome
Synonyms: Barakat syndrome; HDR syndrome; HDRS; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; Nephrosis, nerve deafness, and hypoparathyroidism
SNOMED CT: Hypoparathyroidism, deafness, renal disease syndrome (724282009); Barakat syndrome (724282009); HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome (724282009); HDR syndrome (724282009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): GATA3 (10p14)
 
Monarch Initiative: MONDO:0007797
OMIM®: 146255
Orphanet: ORPHA2237

Definition

HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018). [from OMIM]

Clinical features

From HPO
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Uterus didelphys
MedGen UID:
82740
Concept ID:
C0266393
Congenital Abnormality
A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.
Septate vagina
MedGen UID:
82741
Concept ID:
C0266411
Congenital Abnormality
The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
Aplasia of the uterus
MedGen UID:
98421
Concept ID:
C0425913
Finding
Aplasia of the uterus.
Unilateral renal dysplasia
MedGen UID:
140916
Concept ID:
C0431697
Congenital Abnormality
A unilateral form of developmental dysplasia of the kidney.
Thickened glomerular basement membrane
MedGen UID:
488906
Concept ID:
C0445347
Finding
Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.
Chronic kidney disease
MedGen UID:
473458
Concept ID:
C1561643
Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
Aplasia of the vagina
MedGen UID:
330738
Concept ID:
C1841990
Finding
Aplasia of the vagina.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Tetany
MedGen UID:
11748
Concept ID:
C0039621
Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Proximal renal tubular acidosis
MedGen UID:
82804
Concept ID:
C0268435
Disease or Syndrome
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
Distal renal tubular acidosis
MedGen UID:
853429
Concept ID:
C1704380
Disease or Syndrome
A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.
Hypoparathyroidism
MedGen UID:
6985
Concept ID:
C0020626
Disease or Syndrome
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Pseudopapilledema
MedGen UID:
57603
Concept ID:
C0155300
Disease or Syndrome
Apparent optic disc swelling in the absence of increased intracranial pressure.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoparathyroidism, deafness, renal disease syndrome
Follow this link to review classifications for Hypoparathyroidism, deafness, renal disease syndrome in Orphanet.

Recent clinical studies

Etiology

Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Gomes TS, Gortner L, Dockter G, Leitner D, Thakker RV, Rohrer T
Klin Padiatr 2012 Nov;224(7):452-4. Epub 2012 Nov 30 doi: 10.1055/s-0032-1329947. PMID: 23203342

Diagnosis

Berkešová BA, Borbély Z
Vnitr Lek 2023 Summer;69(E-3):16-19. doi: 10.36290/vnl.2023.036. PMID: 37468331
Li Y, Rui X, Li N
Paediatr Respir Rev 2020 Feb;33:24-27. Epub 2019 Oct 8 doi: 10.1016/j.prrv.2019.09.004. PMID: 31734186
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Barakat AJ, Raygada M, Rennert OM
Am J Med Genet A 2018 Jun;176(6):1341-1348. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38693. PMID: 29663634
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476

Therapy

Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Kita M, Kuwata Y, Usui T
Auris Nasus Larynx 2019 Oct;46(5):808-812. Epub 2018 Nov 2 doi: 10.1016/j.anl.2018.10.005. PMID: 30396722
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Kostoglou-Athanassiou I, Stefanopoulos D, Karfi A, Athanassiou P
BMJ Case Rep 2015 Jul 8;2015 doi: 10.1136/bcr-2014-208290. PMID: 26156834Free PMC Article
Sheehan-Rooney K, Swartz ME, Zhao F, Liu D, Eberhart JK
Dis Model Mech 2013 Sep;6(5):1285-91. Epub 2013 May 29 doi: 10.1242/dmm.011965. PMID: 23720234Free PMC Article

Prognosis

Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Upadhyay J, Steenkamp DW, Milunsky JM
Endocr Pract 2013 Nov-Dec;19(6):1035-42. doi: 10.4158/EP13050.RA. PMID: 23757620
Kato Y, Wada N, Numata A, Kakizaki H
Int J Urol 2007 May;14(5):440-2. doi: 10.1111/j.1442-2042.2007.01756.x. PMID: 17511729

Clinical prediction guides

Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Vidavalur R, Devapatla S
Indian Pediatr 2018 Aug 15;55(8):705-706. PMID: 30218523
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K, Thakker RV, Pei Y
J Clin Endocrinol Metab 2005 Apr;90(4):2445-50. Epub 2005 Feb 10 doi: 10.1210/jc.2004-1969. PMID: 15705923

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