MCID: HYP291
MIFTS: 31

Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Neuronal diseases categories

Aliases & Classifications for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia, Aliases & Descriptions:

Name: Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 45 10 41
Barakat Syndrome 41 47 22 60
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 45 20
 
Hypoparathyroidism - Deafness - Renal Disease 41 47
Hdr Syndrome 41 47
Nephrosis, Nerve Deafness, and Hypoparathyroidism 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
barakat syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 146255
Orphanet47 2237
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1840333

Summaries for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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NIH Rare Diseases:41 Barakat syndrome is an inherited condition characterized by hypoparathyroidism, sensorineural hearing loss, and renal (kidney) disease. most cases have been attributed to a mutation on chromosome 10p which affects the gata3 gene. inheritance is likely autosomal dominant. treatment is symptomatic and supportive. last updated: 1/4/2012

MalaCards based summary: Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia, also known as barakat syndrome, is related to hypoparathyroidism and renal dysplasia, and has symptoms including sensorineural hearing impairment, hypoparathyroidism and hypocalcemia. An important gene associated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia is GATA3 (GATA binding protein 3). Affiliated tissues include kidney and uterus.

Description from OMIM:45 146255

Related Diseases for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism10.8
2renal dysplasia10.8
3cerebritis10.4
4calcinosis10.4
5renal tubular acidosis10.4
6keratopathy10.1
7nephrocalcinosis10.1
8band keratopathy10.1
9pigmentary retinopathy10.1

Graphical network of diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:



Diseases related to hypoparathyroidism, sensorineural deafness, and renal dysplasia

Symptoms for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Symptoms by clinical synopsis from OMIM:

146255

Clinical features from OMIM:

146255

Symptoms:

 47 (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

HPO human phenotypes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

(show all 28)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 hypoparathyroidism hallmark (90%) HP:0000829
3 hypocalcemia hallmark (90%) HP:0002901
4 behavioral abnormality typical (50%) HP:0000708
5 seizures typical (50%) HP:0001250
6 flexion contracture typical (50%) HP:0001371
7 renal hypoplasia/aplasia typical (50%) HP:0008678
8 multicystic kidney dysplasia occasional (7.5%) HP:0000003
9 vesicoureteral reflux occasional (7.5%) HP:0000076
10 renal insufficiency occasional (7.5%) HP:0000083
11 proteinuria occasional (7.5%) HP:0000093
12 ptosis occasional (7.5%) HP:0000508
13 nystagmus occasional (7.5%) HP:0000639
14 hematuria occasional (7.5%) HP:0000790
15 ventricular septal defect occasional (7.5%) HP:0001629
16 pyloric stenosis occasional (7.5%) HP:0002021
17 psoriasis occasional (7.5%) HP:0003765
18 abnormal retinal pigmentation occasional (7.5%) HP:0007703
19 abnormal localization of kidney occasional (7.5%) HP:0100542
20 septate vagina rare (5%) HP:0001153
21 uterus didelphys rare (5%) HP:0003762
22 autosomal dominant inheritance HP:0000006
23 nephrotic syndrome HP:0000100
24 renal dysplasia HP:0000110
25 sensorineural hearing impairment HP:0000407
26 hypoparathyroidism HP:0000829
27 thickening of the glomerular basement membrane HP:0004722
28 chronic kidney disease HP:0012622

Drugs & Therapeutics for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

Search NIH Clinical Center for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

Genetic Tests for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Genetic tests related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

id Genetic test Affiliating Genes
1 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease20 GATA3
2 Barakat Syndrome22

Anatomical Context for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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MalaCards organs/tissues related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

31
Kidney, Uterus

Animal Models for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia or affiliated genes

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Publications for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Articles related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

idTitleAuthorsYear
1
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. (25767699)
2015
2
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. (24859509)
2014
3
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). (23720234)
2013
4
Familial idiopathic hypoparathyroidism, sensorineural deafness and renal dysplasia. (11300141)
2001
5
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. (1522843)
1992

Variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

62
id Symbol AA change Variation ID SNP ID
1GATA3p.Trp274ArgVAR_017818

Clinvar genetic disease variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GATA3GATA3, 900-KB DELdeletionPathogenic
2GATA3GATA3, 250-KB DELdeletionPathogenic
3GATA3GATA3, 49-BP DEL, NT465-513deletionPathogenic
4GATA3GATA3, 12-BP DEL, NT946-957deletionPathogenic
5GATA3NM_001002295.1(GATA3): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs104894162GRCh37Chr 10, 8106006: 8106006
6GATA3NM_001002295.1(GATA3): c.823T> A (p.Trp275Arg)single nucleotide variantPathogenicrs104894163GRCh37Chr 10, 8106000: 8106000
7GATA3GATA3, 2-BP INS, 3-BP INSinsertionPathogenic
8GATA3NM_001002295.1(GATA3): c.1099C> T (p.Arg367Ter)single nucleotide variantPathogenicrs104894164GRCh37Chr 10, 8115750: 8115750
9GATA3GATA3, 1-BP DEL, 431GdeletionPathogenic
10GATA3GATA3, 1-BP DEL, 478GdeletionPathogenic
11GATA3NM_001002295.1(GATA3): c.924+2delTinsGCTTACTTCCCindelPathogenicrs387906551GRCh37Chr 10, 8106103: 8106103
12GATA3NM_001002295.1(GATA3): c.1059A> T (p.Arg353Ser)single nucleotide variantPathogenicrs104894165GRCh37Chr 10, 8115710: 8115710
13GATA3GATA3, 2-BP DEL, 108GGdeletionPathogenic
14GATA3NM_001002295.1(GATA3): c.1025G> A (p.Cys342Tyr)single nucleotide variantPathogenicrs387906621GRCh37Chr 10, 8111536: 8111536

Expression for genes affiliated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Search GEO for disease gene expression data for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia.

Pathways for genes affiliated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Compounds for genes affiliated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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GO Terms for genes affiliated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Products for genes affiliated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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Sources for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet