MCID: BRK004
MIFTS: 32

Barakat Syndrome malady

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

Summaries for Barakat Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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.Ā treatment is symptomatic and supportive. last updated: 1/4/2012

MalaCards: Barakat Syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia, is related to renal dysplasia and renal agenesis, and has symptoms including psoriasis, hematuria/microhematuria and hypoparathyroidy. An important gene associated with Barakat Syndrome is GATA3 (GATA binding protein 3). Affiliated tissues include kidney.

Wikipedia:66 Barakat syndrome, is a rare disease characterized by hypoparathyroidism, sensorineural deafness and... more...

Description from OMIM:48 146255

Aliases & Classifications for Barakat Syndrome

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44NIH Rare Diseases, 23GTR, 50Orphanet, 63UMLS, 48OMIM, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
barakat syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

barakat syndrome 44 23 50 63
hypoparathyroidism, sensorineural deafness, and renal dysplasia 44 48
hdr syndrome 44 50
nephrosis, nerve deafness, and hypoparathyroidism 44
hypoparathyroidism - deafness - renal disease 50


External Ids:

OMIM48 146255
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C1840333

Related Diseases for Barakat Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Barakat Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Graphical network of diseases related to Barakat Syndrome:



Diseases related to barakat syndrome

Symptoms for Barakat Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

146255

Clinical features from OMIM:

146255

Symptoms:

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

Drugs & Therapeutics for Barakat Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Barakat Syndrome

Drug clinical trials:

Search ClinicalTrials for Barakat Syndrome

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Search CenterWatch for Barakat Syndrome

Genetic Tests for Barakat Syndrome

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23GTR
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Genetic tests related to Barakat Syndrome:

id Genetic test Affiliating Genes
1 Barakat Syndrome23

Anatomical Context for Barakat Syndrome

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34MalaCards
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MalaCards organs/tissues related to Barakat Syndrome:

34
Kidney

Animal Models for Barakat Syndrome or affiliated genes

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Publications for Barakat Syndrome

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53PubMed
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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
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. (18426329)
2008

Variations for Barakat Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Barakat Syndrome:

65
id Symbol AA change Variation ID SNP ID
1GATA3p.Trp274ArgVAR_017818

Clinvar genetic disease variations for Barakat Syndrome:

1 (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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Barakat Syndrome

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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
  • Antibodies

Sources for Barakat Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet