MCID: HYP291
MIFTS: 35

Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia malady

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

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

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Aliases & Descriptions for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

Name: Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 49 11 45
Barakat Syndrome 45 22 24 65 67
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 22 67
Nephrosis, Nerve Deafness, and Hypoparathyroidism 45 67
 
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 67
Hrd Syndrome 22
Hdr Syndrome 45
Hdr 67


Classifications:



External Ids:

OMIM49 146255
MedGen34 C1840333

Summaries for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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NIH Rare Diseases:45 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.

UniProtKB/Swiss-Prot:67 Hypoparathyroidism, sensorineural deafness, and renal disease: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Description from OMIM:49 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:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism10.8
2renal dysplasia10.8
3prostate cancer10.5
4male reproductive organ cancer10.5
5male reproductive system disease10.5
6prostate disease10.5
7male genital disorders10.5
8reproductive system disease10.5
9cerebritis10.4
10calcinosis10.4
11tumoral calcinosis10.4
12prostate cancer 110.4
13hypoparathyroidism-retardation-dysmorphism syndrome10.3
14hemorrhoid10.2
15rectal disease10.2
16rectal neoplasm10.2
17sexual disorder10.2
18renal tubular acidosis10.2
19hypoparathyroidism - deafness - renal disease10.2
20breast cancer10.2
21bladder cancer, somatic10.2
22bladder disease10.2
23urethral syndrome10.2
24adenocarcinoma10.2
25intestinal benign neoplasm10.2
26male urethral cancer10.2
27prostate adenocarcinoma10.2
28prostatic urethral cancer10.2
29tongue cancer10.2
30urethra cancer10.2
31urethral benign neoplasm10.2
32vaginal cancer10.2
33urethral cancer10.2
34cervical cancer, somatic10.1
35li-fraumeni syndrome10.1
36gastric cancer10.1
37prostate cancer, progression and metastasis of10.1
38ductal carcinoma in situ10.1
39vulvovaginal candidiasis10.1
40female breast carcinoma10.1
41breast carcinoma in situ10.1
42breast disease10.1
43breast ductal carcinoma10.1
44cervicitis10.1
45female reproductive organ cancer10.1
46female reproductive system disease10.1
47heart cancer10.1
48in situ carcinoma10.1
49prostatitis10.1
50seminal vesicle tumor10.1

Graphical network of the top 20 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

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

(show all 27)
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 proteinuria occasional (7.5%) HP:0000093
11 ptosis occasional (7.5%) HP:0000508
12 nystagmus occasional (7.5%) HP:0000639
13 hematuria occasional (7.5%) HP:0000790
14 ventricular septal defect occasional (7.5%) HP:0001629
15 pyloric stenosis occasional (7.5%) HP:0002021
16 psoriasis occasional (7.5%) HP:0003765
17 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
18 abnormal localization of kidney occasional (7.5%) HP:0100542
19 septate vagina rare (5%) HP:0001153
20 uterus didelphys rare (5%) HP:0003762
21 autosomal dominant inheritance HP:0000006
22 nephrotic syndrome HP:0000100
23 renal dysplasia HP:0000110
24 sensorineural hearing impairment HP:0000407
25 hypoparathyroidism HP:0000829
26 thickening of the glomerular basement membrane HP:0004722
27 chronic kidney disease HP:0012622

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Disease22 GATA3
2 Barakat Syndrome24

Anatomical Context for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1GATA3p.Trp274ArgVAR_017818

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

5 (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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GO Terms 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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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