MCID: DNN002
MIFTS: 34

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:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 51 23 47 24 25 53 69 26 12 67
Faciooculoacousticorenal Syndrome 23 47 24 25 69
Dbs/foar Syndrome 23 47 24 25 53
Foar Syndrome 23 24 25 53 69
Facio-Oculo-Acoustico-Renal Syndrome 24 53 69
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 25 53
 
Dbs 25 69
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 47
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 53
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 53
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 25
Holmes-Schepens Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

63
donnai-barrow syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 222448
Orphanet53 ORPHA2143
MESH via Orphanet39 C536390
UMLS via Orphanet68 C1857277
ICD10 via Orphanet30 Q87.8
MedGen36 C1857277

Summaries for Donnai-Barrow Syndrome

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OMIM:51 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 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.

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:47 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:69 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 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:

 63 53 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-molecular-weight proteinuria63 obligate (100%) HP:0003126
2 non-acidotic proximal tubulopathy63 obligate (100%) HP:0005574
3 proteinuria63 53 hallmark (90%) Very frequent (99-80%) HP:0000093
4 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
5 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
6 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
7 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
8 broad nasal tip63 hallmark (90%) HP:0000455
9 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
10 proptosis63 53 hallmark (90%) Frequent (79-30%) HP:0000520
11 myopia63 53 hallmark (90%) Very frequent (99-80%) HP:0000545
12 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
13 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
14 aplasia/hypoplasia of the corpus callosum63 53 hallmark (90%) Very frequent (99-80%) HP:0007370
15 high anterior hairline63 hallmark (90%) HP:0009890
16 cognitive impairment63 hallmark (90%) HP:0100543
17 infra-orbital crease63 hallmark (90%) HP:0100876
18 low-set ears63 common (75%) HP:0000369
19 macrocephaly63 53 typical (50%) Frequent (79-30%) HP:0000256
20 broad forehead63 53 typical (50%) Frequent (79-30%) HP:0000337
21 visual impairment63 typical (50%) HP:0000505
22 retinal detachment63 53 typical (50%) Frequent (79-30%) HP:0000541
23 congenital diaphragmatic hernia63 53 typical (50%) Frequent (79-30%) HP:0000776
24 umbilical hernia63 53 typical (50%) Frequent (79-30%) HP:0001537
25 omphalocele63 53 typical (50%) Frequent (79-30%) HP:0001539
26 diaphragmatic eventration63 typical (50%) HP:0009110
27 progressive visual loss63 53 frequent (33%) Frequent (79-30%) HP:0000529
28 retinal dystrophy63 53 frequent (33%) Occasional (29-5%) HP:0000556
29 wide anterior fontanel63 53 9% Very frequent (99-80%) HP:0000260
30 abnormality of female internal genitalia63 occasional (7.5%) HP:0000008
31 chorioretinal coloboma63 occasional (7.5%) HP:0000567
32 iris coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000612
33 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
34 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
35 intestinal malrotation63 53 occasional (7.5%) Occasional (29-5%) HP:0002566
36 hypoplasia of the iris63 occasional (7.5%) HP:0007676
37 posteriorly rotated ears63 53 7% Very frequent (99-80%) HP:0000358
38 bicornuate uterus63 53 rare (5%) Occasional (29-5%) HP:0000813
39 severe myopia63 rare (5%) HP:0011003
40 global developmental delay63 53 4% Very frequent (99-80%) HP:0001263
41 cataract63 very rare (1%) HP:0000518
42 malar flattening63 HP:0000272
43 partial agenesis of the corpus callosum63 HP:0001338
44 midface retrusion63 HP:0011800
45 abnormality of the uterus53 Occasional (29-5%)
46 widow's peak53 Very frequent (99-80%)
47 intellectual disability53 Very frequent (99-80%)

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 Syndrome26
2 Donnai-Barrow Syndrome24 LRP2

Anatomical Context for Donnai-Barrow Syndrome

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MalaCards organs/tissues related to Donnai-Barrow Syndrome:

35
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:

69
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)SNVPathogenicrs80338747GRCh37Chr 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)SNVPathogenicrs80338744GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet