DBS
MCID: DNN002
MIFTS: 39

Donnai-Barrow Syndrome (DBS) malady

Fetal diseases, Nephrological diseases, Ear diseases categories

Summaries for Donnai-Barrow Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Donnai barrow syndrome is an inherited disorder that affects many parts of the body. it is characterized by unusual facial features, severe sensorineural hearing loss, vision problems, and absence or underdeveloped of the corpus callosum (the tissue connecting the left and right halves of the brain). individuals with donnai barrow syndrome may also have a diaphragmatic hernia, omphalocele, or other abnormalities of the intestine or heart. affected individuals often have mild to moderate intellectual disability and developmental delay. the condition is caused by mutations in the lrp2 gene and is believed the be inherited in an autosomal recessive manner. last updated: 2/5/2010

MalaCards: Donnai-Barrow Syndrome, also known as dbs/foar syndrome, is related to diaphragmatic hernia exomphalos corpus callosum agenesis and obesity, and has symptoms including omphalocele/exomphalos, umbilical hernia and diaphragmatic hernia/defect/agenesis. An important gene associated with Donnai-Barrow Syndrome is LRP2 (low density lipoprotein receptor-related protein 2). Affiliated tissues include heart, brain and eye.

Genetics Home Reference:21 Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.

Description from OMIM:46 222448

GeneReviews summary for donnai

Aliases & Classifications for Donnai-Barrow Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

donnai-barrow syndrome 19 42 20 22 21 46 48 60
dbs/foar syndrome 19 42 21 48
faciooculoacousticorenal syndrome 19 42 21
foar syndrome 19 21 48
diaphragmatic hernia-exomphalos-hypertelorism syndrome 21 48
diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria 42
syndrome of ocular and facial anomalies, telecanthus and deafness 48
diaphragmatic hernia-hypertelorism-myopia-deafness syndrome 48
diaphragmatic hernia-exomphalos-corpus callosum agenesis 21
facio-oculo-acoustico-renal syndrome 48
holmes-schepens syndrome 48
dbs 21


External Ids:

OMIM46 222448
MESH via Orphanet35 C536390
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1857277

Related Diseases for Donnai-Barrow Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Donnai-Barrow Syndrome:



Diseases related to donnai-barrow syndrome

Clinical Features for Donnai-Barrow Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

222448

Clinical synopsis from OMIM:

222448

Symptoms:

48 (show all 29)
  • omphalocele/exomphalos
  • umbilical hernia
  • diaphragmatic hernia/defect/agenesis
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • retinal/chorioretinal dysplasia/dystrophy
  • intestinal/gut/bowel malrotation
  • ventricular septal defect/interventricular communication
  • uterine/uterus/fallopian tubes anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • stillbirth/neonatal death
  • visual loss/blindness/amblyopia
  • retinal detachment
  • proptosis/exophthalmos
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • myopia
  • short/small nose
  • depressed nasal bridge
  • low set ears/posteriorly rotated ears
  • sensorineural deafness/hearing loss
  • high hair line (front)/widow peak
  • proteinuria
  • corpus callosum/septum pellucidum total/partial agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • broad forehead
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Donnai-Barrow Syndrome

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

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Drug clinical trials:

Search ClinicalTrials for Donnai-Barrow Syndrome

Search NIH Clinical Center for Donnai-Barrow Syndrome

Search CenterWatch for Donnai-Barrow Syndrome

Genetic Tests for Donnai-Barrow Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Donnai-Barrow Syndrome:

id Genetic test Affiliating Genes
1 Donnai-Barrow Syndrome20 LRP2
2 Donnai Barrow Syndrome22

Anatomical Context for Donnai-Barrow Syndrome

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32MalaCards
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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

32
Heart, Brain, Eye, Uterus

Animal Models for Donnai-Barrow Syndrome or affiliated genes

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Publications for Donnai-Barrow Syndrome

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50PubMed
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Articles related to Donnai-Barrow Syndrome:

idTitleAuthorsYear
1
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. (22153411)
2011
2
Cochlear implantation in Donnai-Barrow syndrome. (21756462)
2011
3
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. (19952924)
2010
4
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. (18553518)
2008
5
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. (17632512)
2007
6
Ocular manifestations of Donnai-Barrow syndrome. (17621530)
2007
7
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. (16532464)
2006
8
Donnai-Barrow syndrome: four additional patients. (12923867)
2003
9
Donnai-Barrow Syndrome (20301732)
1993

Genetic Variations for Donnai-Barrow Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Donnai-Barrow Syndrome:

62
id Symbol AA change Variation ID SNP ID
1LRP2p.Tyr2522HisVAR_037013

Expression for genes affiliated with Donnai-Barrow Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Donnai-Barrow Syndrome

Search GEO for disease gene expression data for Donnai-Barrow Syndrome.

Pathways for genes affiliated with Donnai-Barrow Syndrome

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Compounds for genes affiliated with Donnai-Barrow Syndrome

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GO Terms for genes affiliated with Donnai-Barrow Syndrome

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Products for genes affiliated with Donnai-Barrow Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Donnai-Barrow 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