DBS
MCID: DNN002
MIFTS: 38

Donnai-Barrow Syndrome (DBS) malady

Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear diseases categories
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Summaries for Donnai-Barrow Syndrome

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 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 obesity, and has symptoms including retinal detachment, coloboma of iris and uterine/uterus/fallopian tubes anomalies. An important gene associated with Donnai-Barrow Syndrome is LRP2 (low density lipoprotein receptor-related protein 2). Affiliated tissues include heart, brain and uterus.

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

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
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 Orphanet63 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

Symptoms for Donnai-Barrow Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

222448

Clinical features from OMIM:

222448

Symptoms:

49 (show all 29)
  • 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
  • retinoschisis/retinal/chorioretinal coloboma
  • myopia
  • 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
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Donnai-Barrow Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Donnai-Barrow Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

33
Heart, Brain, Uterus

Animal Models for Donnai-Barrow Syndrome or affiliated genes

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Publications for Donnai-Barrow Syndrome

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52PubMed
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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
Ocular manifestations of Donnai-Barrow syndrome. (17621530)
2007
6
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. (16532464)
2006
7
Donnai-Barrow syndrome: four additional patients. (12923867)
2003
8
Donnai-Barrow Syndrome (20301732)
1993

Variations for Donnai-Barrow Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Donnai-Barrow Syndrome:

64
id Symbol AA change Variation ID SNP ID
1LRP2p.Tyr2522HisVAR_037013

Clinvar genetic disease variations for Donnai-Barrow Syndrome:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1LRP2NM_004525.2(LRP2): c.11469_11472delTTTG (p.Cys3823Trpfs)deletionPathogenicrs80338753GRCh37Chr 2, 170026237: 170026240
2LRP2NM_004525.2(LRP2): c.13139dupC (p.Cys4381Metfs)duplicationPathogenicrs80338754GRCh37Chr 2, 169997024: 169997025
3LRP2NM_004525.2(LRP2): c.770-2A> Gsingle nucleotide variantPathogenicrs80338743GRCh37Chr 2, 170147509: 170147509
4LRP2NM_004525.2(LRP2): c.9358_9359delAG (p.Ser3120Trpfs)deletionPathogenicrs80338750GRCh37Chr 2, 170042499: 170042500
5LRP2LRP2, 1-BP DEL, NT12437deletionPathogenic
6LRP2NM_004525.2(LRP2): c.6160G> A (p.Asp2054Asn)single nucleotide variantPathogenicrs138269726GRCh37Chr 2, 170068598: 170068598
7LRP2NM_004525.2(LRP2): c.7564T> C (p.Tyr2522His)single nucleotide variantPathogenicrs80338747GRCh37Chr 2, 170062140: 170062140
8LRP2NM_004525.2(LRP2): c.9484_9485delGT (p.Val3162Leufs)deletionPathogenicrs80338751GRCh37Chr 2, 170042373: 170042374
9LRP2NM_004525.2(LRP2): c.2640-1G> Asingle nucleotide variantPathogenicrs80338746GRCh37Chr 2, 170103957: 170103957
10LRP2NM_004525.2(LRP2): c.8516_8519delTTTA (p.Tyr2840Cysfs)deletionPathogenicrs80338749GRCh37Chr 2, 170055355: 170055358
11LRP2NM_004525.2(LRP2): c.8452+1G> Asingle nucleotide variantPathogenicrs80338748GRCh37Chr 2, 170058137: 170058137
12LRP2NM_004525.2(LRP2): c.10195C> T (p.Arg3399Ter)single nucleotide variantPathogenicrs80338752GRCh37Chr 2, 170034511: 170034511
13LRP2NM_004525.2(LRP2): c.1341+2T> Gsingle nucleotide variantPathogenicrs80338745GRCh37Chr 2, 170136858: 170136858
14LRP2NM_004525.2(LRP2): c.1093C> T (p.Arg365Ter)single nucleotide variantPathogenicrs80338744GRCh37Chr 2, 170139461: 170139461

Expression for genes affiliated with Donnai-Barrow Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Donnai-Barrow Syndrome

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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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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