MCID: BRK004
MIFTS: 27

Barakat Syndrome malady

Nephrological, Ear, Endocrine, Fetal, Neuronal categories

Summaries for Barakat Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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 hypoparathyroidism, autosomal dominant, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, failure to thrive/difficulties for feeding in infancy/growth delay and nystagmus. An important gene associated with Barakat Syndrome is GATA3 (GATA binding protein 3). Affiliated tissues include kidney.

Wikipedia:64 Barakat syndrome, is a rare disease characterized by hypoparathyroidism, sensorineural deafness and... more...

Description from OMIM:47 146255

Aliases & Classifications for Barakat Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Nephrological, Ear, Endocrine, Neuronal


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

barakat syndrome 43 22 49 61
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

Related Diseases for Barakat Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Barakat Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1renal dysplasia10.5
2hypoparathyroidism, autosomal dominant10.4
3familial deafness10.3
4renal agenesis10.3
5renal tubular acidosis10.2
6hypoparathyroidism10.1
7rare deafness10.1
8band keratopathy10.0
9hirschsprung's disease10.0
10nephrocalcinosis10.0
11adult syndrome10.0
12pigmentary retinopathy10.0
13renal tubular acidosis, distal10.0

Graphical network of diseases related to Barakat Syndrome:



Diseases related to barakat syndrome

Clinical Features for Barakat Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

146255

Clinical synopsis from OMIM:

146255

Symptoms:

49 (show all 21)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • 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
  • renal failure
  • ectopic/horseshoe/fused kidneys
  • 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

Drugs & Therapeutics for Barakat Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Barakat Syndrome

Drug clinical trials:

Search ClinicalTrials for Barakat Syndrome

Search NIH Clinical Center for Barakat Syndrome

Search CenterWatch for Barakat Syndrome

Genetic Tests for Barakat Syndrome

Sources:
22GTR
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Genetic tests related to Barakat Syndrome:

id Genetic test Affiliating Genes
1 Barakat Syndrome22

Anatomical Context for Barakat Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Barakat Syndrome:

33
Kidney

Animal Models for Barakat Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Barakat Syndrome

Sources:
51PubMed
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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

Genetic Variations for Barakat Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Barakat Syndrome:

63
id Symbol AA change Variation SNP ID
1GATA3p.Trp274ArgVAR_017818

Expression for genes affiliated with Barakat Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Barakat Syndrome

GO Terms for genes affiliated with Barakat Syndrome

Products for genes affiliated with Barakat Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Barakat Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet