MCID: HYP291
MIFTS: 31

Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Ear diseases

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 67 24 65
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

Characteristics:

HPO:

61
hypoparathyroidism, sensorineural deafness, and renal dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146255
MedGen34 C1840333
UMLS65 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-retardation-dysmorphism syndrome and hypoparathyroidism-deafness-renal disease syndrome, and has symptoms including hypocalcemia, hypoparathyroidism and sensorineural hearing impairment. 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 all 18)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism-retardation-dysmorphism syndrome11.6
2hypoparathyroidism-deafness-renal disease syndrome11.5
3attention deficit-hyperactivity disorder10.4
4tetralogy of fallot10.4
5atrioventricular septal defect10.4
6epidural abscess10.4
7impotence10.4
8brain ischemia10.3
9cerebral artery occlusion10.3
10ischemia10.3
11cerebritis10.3
12melorheostosis10.3
13bladder disease10.3
14congenital hypothyroidism10.3
15hypothyroidism10.3
16diverticulitis10.3
17melanoma10.3
18compartment syndrome10.3

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

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

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

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

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
Long-term results of endoscopic treatment of vesicoureteral reflux in children: comparison of different bulking agents. (22212178)
2013
2
Evidence for an apical Na-Cl cotransporter involved in ion uptake in a teleost fish. (18689412)
2008
3
Multiple myeloma simulating Gaucher's disease. (16846472)
2006
4
Identification and characterization of small molecule functional antagonists of the CCR1 chemokine receptor. (9624164)
1998
5
Effect of hemodialysis on the concentration of the seven tumor markers carcinoembryonic antigen, alpha-fetoprotein, squamous cell carcinoma-related antigen, neuron-specific enolase, CA 125, CA 19-9 and CA 15-3 in uremic patients. (1725572)
1991

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
2GATA3p.Arg298GlnVAR_075427

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