DBS
MCID: DNN002
MIFTS: 35

Donnai-Barrow Syndrome (DBS) malady

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

Aliases & Classifications for Donnai-Barrow Syndrome

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Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 52 23 48 24 25 54 70 27 12 68
Faciooculoacousticorenal Syndrome 23 48 24 25 70
Dbs/foar Syndrome 23 48 24 25 54
Foar Syndrome 23 24 25 54 70
Facio-Oculo-Acoustico-Renal Syndrome 24 54 70
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 25 54
 
Dbs 25 70
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 48
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 54
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 54
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 25
Holmes-Schepens Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

64
donnai-barrow syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 222448
Orphanet54 ORPHA2143
MESH via Orphanet40 C536390
UMLS via Orphanet69 C1857277
ICD10 via Orphanet31 Q87.8
MedGen37 C1857277

Summaries for Donnai-Barrow Syndrome

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OMIM:52 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 parkinson disease, late-onset, and has symptoms including unspecified visual loss, unspecified visual loss and Array. An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2). Affiliated tissues include heart, brain and eye.

Genetics Home Reference:25 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:48 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:70 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.

GeneReviews 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 & Phenotypes for Donnai-Barrow Syndrome

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Symptoms by clinical synopsis from OMIM:

222448

Clinical features from OMIM:

222448

Human phenotypes related to Donnai-Barrow Syndrome:

 54 64 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria64 54 Very frequent (99-80%) HP:0000093
2 abnormality of the uterus54 Occasional (29-5%)
3 macrocephaly64 54 Frequent (79-30%) HP:0000256
4 wide anterior fontanel64 54 Very frequent (99-80%) HP:0000260
5 hypertelorism64 54 Very frequent (99-80%) HP:0000316
6 broad forehead64 54 Frequent (79-30%) HP:0000337
7 widow's peak64 54 Very frequent (99-80%) HP:0000349
8 posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000358
9 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
10 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
11 proptosis64 54 Frequent (79-30%) HP:0000520
12 progressive visual loss64 54 Frequent (79-30%) HP:0000529
13 retinal detachment64 54 Frequent (79-30%) HP:0000541
14 myopia64 54 Very frequent (99-80%) HP:0000545
15 retinal dystrophy64 54 Occasional (29-5%) HP:0000556
16 iris coloboma64 54 Occasional (29-5%) HP:0000612
17 congenital diaphragmatic hernia64 54 Frequent (79-30%) HP:0000776
18 bicornuate uterus64 54 Occasional (29-5%) HP:0000813
19 intellectual disability64 54 Very frequent (99-80%) HP:0001249
20 seizures64 54 Occasional (29-5%) HP:0001250
21 global developmental delay64 54 Very frequent (99-80%) HP:0001263
22 umbilical hernia64 54 Frequent (79-30%) HP:0001537
23 omphalocele64 54 Frequent (79-30%) HP:0001539
24 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
25 intestinal malrotation64 54 Occasional (29-5%) HP:0002566
26 short nose64 54 Very frequent (99-80%) HP:0003196
27 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
28 aplasia/hypoplasia of the corpus callosum64 54 Very frequent (99-80%) HP:0007370
29 malar flattening64 HP:0000272
30 low-set ears64 HP:0000369
31 broad nasal tip64 HP:0000455
32 cataract64 HP:0000518
33 partial agenesis of the corpus callosum64 HP:0001338
34 low-molecular-weight proteinuria64 HP:0003126
35 non-acidotic proximal tubulopathy64 HP:0005574
36 hypoplasia of the iris64 HP:0007676
37 diaphragmatic eventration64 HP:0009110
38 severe myopia64 HP:0011003
39 midface retrusion64 HP:0011800
40 infra-orbital crease64 HP:0100876

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 SyndromeUnknown statusNCT01509287

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 Syndrome27
2 Donnai-Barrow Syndrome24 LRP2

Anatomical Context for Donnai-Barrow Syndrome

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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

36
Heart, Brain, Eye, Uterus

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:

70
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 pathogenicrs764880181GRCh37Chr 2, 169997025: 169997025
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> GSNVPathogenicrs80338743GRCh37Chr 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)SNVPathogenicrs138269726GRCh37Chr 2, 170068598: 170068598
8LRP2NM_ 004525.2(LRP2): c.7564T> C (p.Tyr2522His)SNVPathogenic/ Likely pathogenicrs80338747GRCh37Chr 2, 170062140: 170062140
9LRP2NM_ 004525.2(LRP2): c.9484_ 9485delGT (p.Val3162Leufs)deletionPathogenicrs80338751GRCh37Chr 2, 170042373: 170042374
10LRP2NM_ 004525.2(LRP2): c.2640-1G> ASNVPathogenicrs587776717GRCh37Chr 2, 170112747: 170112747
11LRP2NM_ 004525.2(LRP2): c.8516_ 8519delTTTA (p.Tyr2840Cysfs)deletionPathogenicrs80338749GRCh37Chr 2, 170055355: 170055358
12LRP2NM_ 004525.2(LRP2): c.8452+1G> ASNVPathogenicrs80338748GRCh37Chr 2, 170058137: 170058137
13LRP2NM_ 004525.2(LRP2): c.10195C> T (p.Arg3399Ter)SNVPathogenicrs80338752GRCh37Chr 2, 170034511: 170034511
14LRP2NM_ 004525.2(LRP2): c.1341+2T> GSNVPathogenicrs80338745GRCh37Chr 2, 170136858: 170136858
15LRP2NM_ 004525.2(LRP2): c.1093C> T (p.Arg365Ter)SNVPathogenicrs80338744GRCh38Chr 2, 169282951: 169282951

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet