MCID: BRK004
MIFTS: 33

Barakat Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Neuronal diseases categories
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Summaries for Barakat Syndrome

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NIH Rare Diseases:42 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: Barakat Syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia, is related to renal dysplasia and renal agenesis, and has symptoms including sensorineural deafness/hearing loss, hypoparathyroidy and hypocalcemia. An important gene associated with Barakat Syndrome is GATA3 (GATA binding protein 3). Affiliated tissues include kidney.

Wikipedia:65 Barakat syndrome, is a rare disease characterized by hypoparathyroidism, sensorineural deafness and... more...

Description from OMIM:46 146255

Aliases & Classifications for Barakat Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Barakat Syndrome, Aliases & Descriptions:

Name: Barakat Syndrome 42 22 48 62
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 42 46
Hdr Syndrome 42 48
 
Nephrosis, Nerve Deafness, and Hypoparathyroidism 42
Hypoparathyroidism - Deafness - Renal Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
barakat syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 146255
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1840333

Related Diseases for Barakat Syndrome

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Diseases related to Barakat Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1renal dysplasia10.5
2renal agenesis10.3
3renal tubular acidosis10.2
4hypoparathyroidism, sensorineural deafness, and renal disease10.2
5hypoparathyroidism10.2
6diabetes mellitus10.1
7keratopathy10.1
8nephrocalcinosis10.1
9band keratopathy10.1
10cerebritis10.1
11pigmentary retinopathy10.1

Graphical network of diseases related to Barakat Syndrome:



Diseases related to barakat syndrome

Symptoms for Barakat Syndrome

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Symptoms by clinical synopsis from OMIM:

146255

Clinical features from OMIM:

146255

Symptoms:

48 (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 Barakat Syndrome:

(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 Barakat Syndrome

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Drug clinical trials:

Search ClinicalTrials for Barakat Syndrome

Search NIH Clinical Center for Barakat Syndrome

Genetic Tests for Barakat Syndrome

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Genetic tests related to Barakat Syndrome:

id Genetic test Affiliating Genes
1 Barakat Syndrome22

Anatomical Context for Barakat Syndrome

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MalaCards organs/tissues related to Barakat Syndrome:

32
Kidney

Animal Models for Barakat Syndrome or affiliated genes

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Publications for Barakat Syndrome

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Articles related to Barakat Syndrome:

idTitleAuthorsYear
1
Seizure, deafness and renal agenesis: A rare case of barakat syndrome. (23661972)
2013
2
Seizure, deafness, and renal failure: a case of barakat syndrome. (24527244)
2013
3
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. (18426329)
2008

Variations for Barakat Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Barakat Syndrome:

64
id Symbol AA change Variation ID SNP ID
1GATA3p.Trp274ArgVAR_017818

Clinvar genetic disease variations for Barakat Syndrome:

6 (show all 14)
id Gene Name 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 Barakat Syndrome

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Expression patterns in normal tissues for genes affiliated with Barakat Syndrome

Search GEO for disease gene expression data for Barakat Syndrome.

Pathways for genes affiliated with Barakat Syndrome

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Compounds for genes affiliated with Barakat Syndrome

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GO Terms for genes affiliated with Barakat Syndrome

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Products for genes affiliated with Barakat Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Barakat Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet