DBS
MCID: DNN002
MIFTS: 40

Donnai-Barrow Syndrome (DBS) malady

Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear diseases categories
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Summaries for Donnai-Barrow Syndrome

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NIH Rare Diseases:42 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

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 large fontanelle/delayed fontanelle closure, hypertelorism and downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures. 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.

Description from OMIM:46 222448

GeneReviews summary for donnai

Aliases & Classifications for Donnai-Barrow Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Donnai-Barrow Syndrome, Aliases & Descriptions:

Name: Donnai-Barrow Syndrome 19 42 20 22 21 46 48 62
Faciooculoacousticorenal Syndrome 19 42 21 62
Dbs/foar Syndrome 19 42 21 48
Foar Syndrome 19 21 48 62
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 21 48 62
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 21 62
 
Facio-Oculo-Acoustico-Renal Syndrome 48 62
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 42
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 48
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 48
Holmes-Schepens Syndrome 48
Dbs 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
donnai-barrow syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

OMIM46 222448
MESH via Orphanet35 C536390
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 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:

48 (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 61)
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 depressed nasal bridge hallmark (90%) HP:0005280
16 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
17 high anterior hairline hallmark (90%) HP:0009890
18 cognitive impairment hallmark (90%) HP:0100543
19 low-set ears common (75%) HP:0000369
20 umbilical hernia typical (50%) HP:0001537
21 diaphragmatic eventration typical (50%) HP:0009110
22 macrocephaly typical (50%) HP:0000256
23 broad forehead typical (50%) HP:0000337
24 visual impairment typical (50%) HP:0000505
25 proptosis typical (50%) HP:0000520
26 retinal detachment typical (50%) HP:0000541
27 congenital diaphragmatic hernia typical (50%) HP:0000776
28 umbilical hernia typical (50%) HP:0001537
29 omphalocele typical (50%) HP:0001539
30 progressive visual loss frequent (33%) HP:0000529
31 retinal detachment frequent (33%) HP:0000541
32 retinal dystrophy frequent (33%) HP:0000556
33 hypertelorism 12% HP:0000316
34 aplasia/hypoplasia of the corpus callosum 11% HP:0007370
35 wide anterior fontanel 9% HP:0000260
36 congenital diaphragmatic hernia 9% HP:0000776
37 short nose 9% HP:0003196
38 downslanted palpebral fissures 8% HP:0000494
39 hypoplasia of the iris occasional (7.5%) HP:0007676
40 abnormality of female internal genitalia occasional (7.5%) HP:0000008
41 chorioretinal coloboma occasional (7.5%) HP:0000567
42 iris coloboma occasional (7.5%) HP:0000612
43 seizures occasional (7.5%) HP:0001250
44 ventricular septal defect occasional (7.5%) HP:0001629
45 intestinal malrotation occasional (7.5%) HP:0002566
46 posteriorly rotated ears 7% HP:0000358
47 omphalocele 6% HP:0001539
48 sensorineural hearing impairment rare (5%) HP:0000407
49 bicornuate uterus rare (5%) HP:0000813
50 seizures rare (5%) HP:0001250
51 ventricular septal defect rare (5%) HP:0001629
52 severe myopia rare (5%) HP:0011003
53 global developmental delay 4% HP:0001263
54 iris coloboma 3% HP:0000612
55 intestinal malrotation 3% HP:0002566
56 cataract very rare (1%) HP:0000518
57 autosomal recessive inheritance HP:0000007
58 macrocephaly HP:0000256
59 malar flattening HP:0000272
60 partial agenesis of the corpus callosum HP:0001338
61 midface retrusion HP:0011800

Drugs & Therapeutics for Donnai-Barrow Syndrome

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Drug clinical trials:

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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:

32
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
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. (22153411)
2011
2
Cochlear implantation in Donnai-Barrow syndrome. (21756462)
2011
3
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. (19952924)
2010
4
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. (18553518)
2008
5
Ocular manifestations of Donnai-Barrow syndrome. (17621530)
2007
6
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. (16532464)
2006
7
Donnai-Barrow syndrome: four additional patients. (12923867)
2003
8
Donnai-Barrow Syndrome (20301732)
1993

Variations for Donnai-Barrow Syndrome

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

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Donnai-Barrow Syndrome

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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
  • Lysates

Sources for Donnai-Barrow Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet