MCID: HYP666
MIFTS: 16

Hypoparathyroidism-Deafness-Renal Disease Syndrome malady

Categories: Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hypoparathyroidism-Deafness-Renal Disease Syndrome:

Name: Hypoparathyroidism-Deafness-Renal Disease Syndrome 51
Barakat Syndrome 51 65
 
Hdr Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
barakat syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 2237
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C1840333
UMLS65 C1840333

Summaries for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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MalaCards based summary: Hypoparathyroidism-Deafness-Renal Disease Syndrome, also known as barakat syndrome, is related to hypoparathyroidism, sensorineural deafness, and renal dysplasia and bladder disease, and has symptoms including sensorineural deafness/hearing loss, hypoparathyroidy and hypocalcemia. An important gene associated with Hypoparathyroidism-Deafness-Renal Disease Syndrome is GATA3 (GATA Binding Protein 3). Affiliated tissues include kidney.

Related Diseases for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Diseases related to Hypoparathyroidism-Deafness-Renal Disease Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism, sensorineural deafness, and renal dysplasia12.0
2bladder disease10.3
3congenital hypothyroidism10.3
4hypothyroidism10.3
5diverticulitis10.3

Graphical network of diseases related to Hypoparathyroidism-Deafness-Renal Disease Syndrome:



Diseases related to hypoparathyroidism-deafness-renal disease syndrome

Symptoms for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Symptoms:

 51 (show all 21)
  • sensorineural deafness/hearing loss
  • hypoparathyroidy
  • hypocalcemia
  • autosomal dominant inheritance
  • agenesis/hypoplasia/aplasia of kidneys
  • seizures/epilepsy/absences/spasms/status epilepticus
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • retinitis pigmentosa/retinal pigmentary changes
  • nystagmus
  • ptosis
  • psoriasis
  • gastric/pyloric stenosis
  • ventricular septal defect/interventricular communication
  • ectopic/horseshoe/fused kidneys
  • multicystic kidney/renal dysplasia
  • vesicorenal/vesicoureteral reflux
  • renal failure
  • proteinuria
  • hematuria/microhematuria
  • failure to thrive/difficulties for feeding in infancy/growth delay

Drugs & Therapeutics for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypoparathyroidism-Deafness-Renal Disease Syndrome

Genetic Tests for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Anatomical Context for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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MalaCards organs/tissues related to Hypoparathyroidism-Deafness-Renal Disease Syndrome:

33
Kidney

Animal Models for Hypoparathyroidism-Deafness-Renal Disease Syndrome or affiliated genes

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Publications for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Variations for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Expression for genes affiliated with Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Search GEO for disease gene expression data for Hypoparathyroidism-Deafness-Renal Disease Syndrome.

Pathways for genes affiliated with Hypoparathyroidism-Deafness-Renal Disease Syndrome

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GO Terms for genes affiliated with Hypoparathyroidism-Deafness-Renal Disease Syndrome

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Sources for Hypoparathyroidism-Deafness-Renal Disease Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet