MCID: DNN002
MIFTS: 36

Donnai-Barrow Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear diseases categories

Summaries for Donnai-Barrow Syndrome

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OMIM:45 The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies,... (222448) more...

MalaCards based summary: Donnai-Barrow Syndrome, also known as dbs/foar syndrome, is related to obesity and tremor, and has symptoms including low-molecular-weight proteinuria, non-acidotic proximal tubulopathy and broad nasal tip. An important gene associated with Donnai-Barrow Syndrome is LRP2 (low density lipoprotein receptor-related protein 2). Affiliated tissues include eye, 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.

NIH Rare Diseases:41 Donnai barrow syndrome is an inherited disorder that affects many parts of the body. people with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. affected people often have mild to moderate intellectual disability and developmental delay. donnai barrow syndrome is caused by changes (mutations) in the lrp2 gene and is inherited in an autosomal recessive manner. treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities. last updated: 11/5/2014

GeneReviews summary for donnai

Aliases & Classifications for Donnai-Barrow Syndrome

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Donnai-Barrow Syndrome, Aliases & Descriptions:

Name: Donnai-Barrow Syndrome 45 10 19 41 20 21 47 22 60
Dbs/foar Syndrome 19 41 21 47
Foar Syndrome 19 41 21 47
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 41 21 47
Faciooculoacousticorenal Syndrome 19 41 21
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 41 47
 
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 41 47
Facio-Oculo-Acoustico-Renal Syndrome 41 47
Holmes-Schepens Syndrome 41 47
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 41
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 21
Dbs 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

OMIM45 222448
Orphanet47 2143
MESH via Orphanet34 C536390
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1857277

Related Diseases for Donnai-Barrow Syndrome

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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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Symptoms by clinical synopsis from OMIM:

222448

Clinical features from OMIM:

222448

Symptoms:

 47 (show all 29)
  • large fontanelle/delayed fontanelle closure
  • 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
  • proptosis/exophthalmos
  • retinal detachment
  • visual loss/blindness/amblyopia
  • 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

HPO human phenotypes related to Donnai-Barrow Syndrome:

(show all 59)
id Description Frequency HPO Source Accession
1 low-molecular-weight proteinuria obligate (100%) HP:0003126
2 non-acidotic proximal tubulopathy obligate (100%) HP:0005574
3 broad nasal tip hallmark (90%) HP:0000455
4 proptosis hallmark (90%) HP:0000520
5 depressed nasal bridge hallmark (90%) HP:0005280
6 infra-orbital crease hallmark (90%) HP:0100876
7 proteinuria hallmark (90%) HP:0000093
8 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
9 hypertelorism hallmark (90%) HP:0000316
10 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
11 sensorineural hearing impairment hallmark (90%) HP:0000407
12 downslanted palpebral fissures hallmark (90%) HP:0000494
13 myopia hallmark (90%) HP:0000545
14 short nose hallmark (90%) HP:0003196
15 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
16 high anterior hairline hallmark (90%) HP:0009890
17 cognitive impairment hallmark (90%) HP:0100543
18 low-set ears common (75%) HP:0000369
19 umbilical hernia typical (50%) HP:0001537
20 diaphragmatic eventration typical (50%) HP:0009110
21 macrocephaly typical (50%) HP:0000256
22 broad forehead typical (50%) HP:0000337
23 visual impairment typical (50%) HP:0000505
24 proptosis typical (50%) HP:0000520
25 retinal detachment typical (50%) HP:0000541
26 congenital diaphragmatic hernia typical (50%) HP:0000776
27 omphalocele typical (50%) HP:0001539
28 progressive visual loss frequent (33%) HP:0000529
29 retinal detachment frequent (33%) HP:0000541
30 retinal dystrophy frequent (33%) HP:0000556
31 hypertelorism 12% HP:0000316
32 aplasia/hypoplasia of the corpus callosum 11% HP:0007370
33 wide anterior fontanel 9% HP:0000260
34 congenital diaphragmatic hernia 9% HP:0000776
35 short nose 9% HP:0003196
36 downslanted palpebral fissures 8% HP:0000494
37 hypoplasia of the iris occasional (7.5%) HP:0007676
38 abnormality of female internal genitalia occasional (7.5%) HP:0000008
39 chorioretinal coloboma occasional (7.5%) HP:0000567
40 iris coloboma occasional (7.5%) HP:0000612
41 seizures occasional (7.5%) HP:0001250
42 ventricular septal defect occasional (7.5%) HP:0001629
43 intestinal malrotation occasional (7.5%) HP:0002566
44 posteriorly rotated ears 7% HP:0000358
45 omphalocele 6% HP:0001539
46 sensorineural hearing impairment rare (5%) HP:0000407
47 bicornuate uterus rare (5%) HP:0000813
48 seizures rare (5%) HP:0001250
49 ventricular septal defect rare (5%) HP:0001629
50 severe myopia rare (5%) HP:0011003
51 global developmental delay 4% HP:0001263
52 iris coloboma 3% HP:0000612
53 intestinal malrotation 3% HP:0002566
54 cataract very rare (1%) HP:0000518
55 autosomal recessive inheritance HP:0000007
56 macrocephaly HP:0000256
57 malar flattening HP:0000272
58 partial agenesis of the corpus callosum HP:0001338
59 midface retrusion HP:0011800

Drugs & Therapeutics for Donnai-Barrow Syndrome

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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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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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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

31
Eye, Brain, Heart, Uterus

Animal Models for Donnai-Barrow Syndrome or affiliated genes

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Publications for Donnai-Barrow Syndrome

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Articles related to Donnai-Barrow Syndrome:

idTitleAuthorsYear
1
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. (25682901)
2015
2
Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome. (25632217)
2012
3
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. (22153411)
2011
4
Cochlear implantation in Donnai-Barrow syndrome. (21756462)
2011
5
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. (19952924)
2010
6
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. (18553518)
2008
7
Ocular manifestations of Donnai-Barrow syndrome. (17621530)
2007
8
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. (16532464)
2006
9
Donnai-Barrow syndrome: four additional patients. (12923867)
2003
10
Donnai-Barrow Syndrome (20301732)
1993

Variations for Donnai-Barrow Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Donnai-Barrow Syndrome:

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

Clinvar genetic disease variations for Donnai-Barrow Syndrome:

6 (show all 14)
id Gene Variation 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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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
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Donnai-Barrow Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet