MCID: BRK004
MIFTS: 32

Barakat Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Neuronal diseases, Endocrine diseases, Fetal diseases categories
Download this MalaCard

Summaries for Barakat Syndrome

About this section
Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: 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:65 Barakat syndrome, is a rare disease characterized by hypoparathyroidism, sensorineural deafness and... more...

Description from OMIM:47 146255

Aliases & Classifications for Barakat Syndrome

About this section
Sources:
43NIH Rare Diseases, 22GTR, 49Orphanet, 62UMLS, 47OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
barakat syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

barakat syndrome 43 22 49 62
hypoparathyroidism, sensorineural deafness, and renal dysplasia 43 47
hdr syndrome 43 49
nephrosis, nerve deafness, and hypoparathyroidism 43
hypoparathyroidism - deafness - renal disease 49


External Ids:

OMIM47 146255
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1840333

Related Diseases for Barakat Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

146255

Clinical features from OMIM:

146255

Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Barakat Syndrome

Search NIH Clinical Center for Barakat Syndrome

Genetic Tests for Barakat Syndrome

About this section
Sources:
22GTR
See all sources

Genetic tests related to Barakat Syndrome:

id Genetic test Affiliating Genes
1 Barakat Syndrome22

Anatomical Context for Barakat Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Barakat Syndrome:

33
Kidney

Animal Models for Barakat Syndrome or affiliated genes

About this section

Publications for Barakat Syndrome

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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:

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Barakat Syndrome

About this section

GO Terms for genes affiliated with Barakat Syndrome

About this section

Products for genes affiliated with Barakat Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Barakat Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet