MCID: BRK004
MIFTS: 30

Barakat Syndrome malady

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

Summaries for Barakat Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Barakat Syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia, is related to renal agenesis and renal tubular acidosis, and has symptoms including gastric/pyloric stenosis, ventricular septal defect/interventricular communication and ectopic/horseshoe/fused kidneys. An important gene associated with Barakat Syndrome is GATA3 (GATA binding protein 3). Affiliated tissues include kidney.

Wikipedia:63 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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42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

barakat syndrome 42 22 48 60
hypoparathyroidism, sensorineural deafness, and renal dysplasia 42 46
hdr syndrome 42 48
nephrosis, nerve deafness, and hypoparathyroidism 42
hypoparathyroidism - deafness - renal disease 48


External Ids:

OMIM46 146255
ICD10 via Orphanet26 Q87.8

Related Diseases for Barakat Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1renal agenesis10.2
2renal tubular acidosis10.2
3hypoparathyroidism10.1
4band keratopathy10.0
5nephrocalcinosis10.0
6adult syndrome10.0
7diabetes mellitus10.0
8keratopathy10.0

Graphical network of diseases related to Barakat Syndrome:



Diseases related to barakat syndrome

Clinical Features for Barakat Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

146255

Clinical synopsis from OMIM:

146255

Symptoms:

48 (show all 21)
  • 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
  • psoriasis
  • ptosis
  • 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
  • sensorineural deafness/hearing loss

Drugs & Therapeutics for Barakat Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Barakat Syndrome

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22GTR
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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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32MalaCards
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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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Genetic Variations for Barakat Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Barakat Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GATA3p.Trp274ArgVAR_017818

Expression for genes affiliated with Barakat Syndrome

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1BioGPS, 15Gene 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet