MCID: DNN002
MIFTS: 36

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:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 50 22 46 23 24 52 68 25 12 66
Faciooculoacousticorenal Syndrome 22 46 23 24 68
Dbs/foar Syndrome 22 46 23 24 52
Foar Syndrome 22 23 24 52 68
Facio-Oculo-Acoustico-Renal Syndrome 23 52 68
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 24 52
 
Dbs 24 68
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 46
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 52
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 52
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 24
Holmes-Schepens Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

62
donnai-barrow syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 222448
Orphanet52 ORPHA2143
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536390
UMLS via Orphanet67 C1857277
MedGen35 C1857277

Summaries for Donnai-Barrow Syndrome

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OMIM:50 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 low-molecular-weight proteinuria, non-acidotic proximal tubulopathy and proteinuria. An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2). Affiliated tissues include heart, brain and eye.

NIH Rare Diseases:46 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:68 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:24 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:

 52 (show all 28)
  • proteinuria
  • abnormality of the uterus
  • macrocephaly
  • wide anterior fontanel
  • hypertelorism
  • broad forehead
  • widow's peak
  • posteriorly rotated ears
  • sensorineural hearing impairment
  • downslanted palpebral fissures
  • proptosis
  • progressive visual loss
  • retinal detachment
  • myopia
  • retinal dystrophy
  • iris coloboma
  • congenital diaphragmatic hernia
  • bicornuate uterus
  • intellectual disability
  • seizures
  • global developmental delay
  • umbilical hernia
  • omphalocele
  • ventricular septal defect
  • intestinal malrotation
  • short nose
  • depressed nasal bridge
  • aplasia/hypoplasia of the corpus callosum

HPO human phenotypes related to Donnai-Barrow Syndrome:

(show all 58)
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 proteinuria hallmark (90%) HP:0000093
4 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
5 hypertelorism hallmark (90%) HP:0000316
6 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
7 sensorineural hearing impairment hallmark (90%) HP:0000407
8 broad nasal tip hallmark (90%) HP:0000455
9 downslanted palpebral fissures hallmark (90%) HP:0000494
10 proptosis hallmark (90%) HP:0000520
11 myopia hallmark (90%) HP:0000545
12 short nose hallmark (90%) HP:0003196
13 depressed nasal bridge hallmark (90%) HP:0005280
14 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
15 high anterior hairline hallmark (90%) HP:0009890
16 cognitive impairment hallmark (90%) HP:0100543
17 infra-orbital crease hallmark (90%) HP:0100876
18 low-set ears common (75%) HP:0000369
19 macrocephaly typical (50%) HP:0000256
20 broad forehead typical (50%) HP:0000337
21 visual impairment typical (50%) HP:0000505
22 proptosis typical (50%) HP:0000520
23 retinal detachment typical (50%) HP:0000541
24 congenital diaphragmatic hernia typical (50%) HP:0000776
25 umbilical hernia typical (50%) HP:0001537
26 omphalocele typical (50%) HP:0001539
27 diaphragmatic eventration typical (50%) HP:0009110
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 abnormality of female internal genitalia occasional (7.5%) HP:0000008
38 chorioretinal coloboma occasional (7.5%) HP:0000567
39 iris coloboma occasional (7.5%) HP:0000612
40 seizures occasional (7.5%) HP:0001250
41 ventricular septal defect occasional (7.5%) HP:0001629
42 intestinal malrotation occasional (7.5%) HP:0002566
43 hypoplasia of the iris occasional (7.5%) HP:0007676
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 macrocephaly HP:0000256
56 malar flattening HP:0000272
57 partial agenesis of the corpus callosum HP:0001338
58 midface retrusion HP:0011800

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 Syndrome25
2 Donnai-Barrow Syndrome23 LRP2

Anatomical Context for Donnai-Barrow Syndrome

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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

34
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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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:

68
id Symbol AA change Variation ID SNP ID
1LRP2p.Tyr2522HisVAR_037013rs80338747

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

Copy number variations for Donnai-Barrow Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11387142169500000177700000Copy numberLRP2Donnai-Barrow syndrome

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet