DBS
MCID: DNN002
MIFTS: 33

Donnai-Barrow Syndrome (DBS) malady

Fetal, Nephrological, Ear categories

Summaries for Donnai-Barrow Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 tremor, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, hypertelorism and low set ears/posteriorly rotated ears. An important gene associated with Donnai-Barrow Syndrome is LRP2 (low density lipoprotein receptor-related protein 2). Affiliated tissues include brain and heart.

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:47 222448

GeneReviews summary for donnai

Aliases & Classifications for Donnai-Barrow Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 21 47 49 61
dbs/foar syndrome 19 43 21 49
faciooculoacousticorenal syndrome 19 43 21
foar syndrome 19 21 49
diaphragmatic hernia-exomphalos-hypertelorism syndrome 21 49
diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria 43
syndrome of ocular and facial anomalies, telecanthus and deafness 49
diaphragmatic hernia-hypertelorism-myopia-deafness syndrome 49
diaphragmatic hernia-exomphalos-corpus callosum agenesis 21
facio-oculo-acoustico-renal syndrome 49
holmes-schepens syndrome 49
dbs 21


External Ids:

OMIM47 222448
MESH via Orphanet36 C536390
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1857277

Related Diseases for Donnai-Barrow Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

222448

Clinical synopsis from OMIM:

222448

Symptoms:

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

Drugs & Therapeutics for Donnai-Barrow Syndrome

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

Search CenterWatch for Donnai-Barrow Syndrome

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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

33
Brain, Heart

Animal Models for Donnai-Barrow Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Donnai-Barrow Syndrome

Sources:
51PubMed
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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

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

63
id Symbol AA change Variation SNP ID
1LRP2p.Tyr2522HisVAR_037013

Expression for genes affiliated with Donnai-Barrow Syndrome

Sources:
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

Compounds for genes affiliated with Donnai-Barrow Syndrome

GO Terms for genes affiliated with Donnai-Barrow Syndrome

Products for genes affiliated with Donnai-Barrow Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Donnai-Barrow 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