MCID: DNN002
MIFTS: 37

Donnai-Barrow Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear diseases

Aliases & Classifications for Donnai-Barrow Syndrome

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 49 11 21 45 22 23 51 67 24 65
Faciooculoacousticorenal Syndrome 21 45 22 23 67
Dbs/foar Syndrome 21 45 22 23 51
Foar Syndrome 21 22 23 51 67
Facio-Oculo-Acoustico-Renal Syndrome 22 51 67
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 23 51
 
Dbs 23 67
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 45
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 51
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 51
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 23
Holmes-Schepens Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

61
donnai-barrow syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 222448
Orphanet51 2143
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536390
UMLS via Orphanet66 C1857277
MedGen34 C1857277
UMLS65 C1857277

Summaries for Donnai-Barrow Syndrome

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OMIM:49 The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies,... (222448) more...

MalaCards based summary: Donnai-Barrow Syndrome, also known as faciooculoacousticorenal syndrome, is related to diaphragmatic hernia exomphalos corpus callosum agenesis and obesity, and has symptoms including non-acidotic proximal tubulopathy, low-molecular-weight proteinuria and infra-orbital crease. An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2). Affiliated tissues include brain, heart and eye.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Donnai-Barrow syndrome: Rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity.

Genetics Home Reference:23 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.

GeneReviews summary for NBK1878

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:

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

UMLS symptoms related to Donnai-Barrow Syndrome:


unspecified visual loss

Drugs & Therapeutics for Donnai-Barrow Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Metabolic Screening in Patients With Donnai-Barrow SyndromeRecruitingNCT01509287

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 Syndrome22 LRP2

Anatomical Context for Donnai-Barrow Syndrome

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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

33
Brain, Heart, Eye, Uterus, T cells, Thyroid, Endothelial

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:

67
id Symbol AA change Variation ID SNP ID
1LRP2p.Tyr2522HisVAR_037013

Clinvar genetic disease variations for Donnai-Barrow Syndrome:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1LRP2NM_004525.2(LRP2): c.13139delC (p.Pro4380Hisfs)deletionLikely pathogenicrs764880181GRCh38Chr 2, 169140515: 169140515
2LRP2NM_004525.2(LRP2): c.11469_11472delTTTG (p.Cys3823Trpfs)deletionPathogenicrs80338753GRCh37Chr 2, 170026237: 170026240
3LRP2NM_004525.2(LRP2): c.13139dupC (p.Cys4381Metfs)duplicationPathogenicrs80338754GRCh37Chr 2, 169997025: 169997025
4LRP2NM_004525.2(LRP2): c.770-2A> Gsingle nucleotide variantPathogenicrs80338743GRCh37Chr 2, 170147509: 170147509
5LRP2NM_004525.2(LRP2): c.9358_9359delAG (p.Ser3120Trpfs)deletionPathogenicrs80338750GRCh37Chr 2, 170042499: 170042500
6LRP2NM_004525.2(LRP2): c.12437delG (p.Gly4146Glufs)deletionPathogenicrs786205122GRCh38Chr 2, 169152823: 169152823
7LRP2NM_004525.2(LRP2): c.6160G> A (p.Asp2054Asn)single nucleotide variantPathogenicrs138269726GRCh37Chr 2, 170068598: 170068598
8LRP2NM_004525.2(LRP2): c.7564T> C (p.Tyr2522His)single nucleotide variantPathogenicrs80338747GRCh37Chr 2, 170062140: 170062140
9LRP2NM_004525.2(LRP2): c.9484_9485delGT (p.Val3162Leufs)deletionPathogenicrs80338751GRCh37Chr 2, 170042373: 170042374
10LRP2NM_004525.2(LRP2): c.2640-1G> Asingle nucleotide variantPathogenicrs587776717GRCh37Chr 2, 170112747: 170112747
11LRP2NM_004525.2(LRP2): c.8516_8519delTTTA (p.Tyr2840Cysfs)deletionPathogenicrs80338749GRCh37Chr 2, 170055355: 170055358
12LRP2NM_004525.2(LRP2): c.8452+1G> Asingle nucleotide variantPathogenicrs80338748GRCh37Chr 2, 170058137: 170058137
13LRP2NM_004525.2(LRP2): c.10195C> T (p.Arg3399Ter)single nucleotide variantPathogenicrs80338752GRCh37Chr 2, 170034511: 170034511
14LRP2NM_004525.2(LRP2): c.1341+2T> Gsingle nucleotide variantPathogenicrs80338745GRCh37Chr 2, 170136858: 170136858
15LRP2NM_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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GO Terms for genes affiliated with Donnai-Barrow Syndrome

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Sources for Donnai-Barrow Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet