MCID: DNN002
MIFTS: 40

Donnai-Barrow Syndrome

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

Aliases & Classifications for Donnai-Barrow Syndrome

MalaCards integrated aliases for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 53 12 23 49 24 55 71 36 13 41 69
Faciooculoacousticorenal Syndrome 53 12 23 49 24 71
Dbs/foar Syndrome 53 12 23 49 24 55
Foar Syndrome 12 23 24 55 71
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 12 24 55
Facio-Oculo-Acoustico-Renal Syndrome 12 55 71
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria 53 12
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 12 55
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 12 55
Holmes-Schepens Syndrome 12 55
Donnai Barrow Syndrome 72 28
Dbs 24 71
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 49
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 24

Characteristics:

Orphanet epidemiological data:

55
donnai-barrow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
donnai-barrow syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Donnai-Barrow Syndrome

OMIM : 53 The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. Facial features include prominent brow, short nose, and hypertelorism, and ocular anomalies include myopia, iris hypoplasia, and/or retinal detachment (Regenbogen and Coscas, 1985). Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, and sensorineural deafness. The classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR (Donnai and Barrow, 1993). However, early reports noted that the 2 disorders shared many phenotypic features and may be identical (e.g., Devriendt et al., 1998). Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), the disorders are now considered to represent the same entity (Kantarci et al., 2007). (222448)

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 seizures, macrocephaly and hypertelorism. An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include eye, brain and heart.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

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.

Disease Ontology : 12 An autosomal recessive disease characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has material basis in homozygous or compound heterozygous mutation in the LRP2 gene on chromosome 2q31.

Wikipedia : 72 Donnai–Barrow syndrome is a genetic disorder first described by Dian Donnai and Margaret Barrow in 1993.... more...

GeneReviews: NBK1878

Related Diseases for Donnai-Barrow Syndrome

Diseases related to Donnai-Barrow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia exomphalos corpus callosum agenesis 11.7
2 parkinson disease, late-onset 11.4
3 dystonia 12 10.9
4 dystonia 11, myoclonic 10.9
5 gnao1 encephalopathy 10.9
6 body mass index quantitative trait locus 11 10.3
7 body mass index quantitative trait locus 9 10.3
8 body mass index quantitative trait locus 8 10.3
9 body mass index quantitative trait locus 7 10.3
10 body mass index quantitative trait locus 12 10.3
11 body mass index quantitative trait locus 14 10.3
12 body mass index quantitative trait locus 18 10.3
13 body mass index quantitative trait locus 4 10.3
14 body mass index quantitative trait locus 10 10.3
15 optic nerve hypoplasia, bilateral 10.2
16 strabismus 10.2
17 focal segmental glomerulosclerosis 1 10.2
18 focal segmental glomerulosclerosis 10.2
19 leptin receptor deficiency 10.1
20 tremor 10.1
21 essential tremor 10.1
22 dystonia 10.0
23 blood group, i system 10.0
24 fibrosis of extraocular muscles, congenital, 1 10.0
25 microvascular complications of diabetes 3 10.0
26 microvascular complications of diabetes 4 10.0
27 microvascular complications of diabetes 6 10.0
28 microvascular complications of diabetes 7 10.0
29 glucose intolerance 10.0
30 neuropathy 10.0
31 endotheliitis 10.0
32 hypertriglyceridemia, familial 9.9
33 hypertriglyceridemia, transient infantile 9.9
34 hyperglycemia 9.9
35 lymphopenia 9.9
36 aging 9.8
37 cerebritis 9.8
38 cerebral atrophy 9.8
39 osteoporosis 9.7
40 bone mineral density quantitative trait locus 8 9.7
41 microvascular complications of diabetes 5 9.7
42 bone mineral density quantitative trait locus 15 9.7
43 diabetes mellitus 9.7
44 diabetic neuropathy 9.7
45 hepatitis 9.7
46 restless legs syndrome 9.7
47 diabetic encephalopathy 9.7
48 limb ischemia 9.7
49 renal fibrosis 9.7
50 gestational diabetes 9.7

Graphical network of the top 20 diseases related to Donnai-Barrow Syndrome:



Diseases related to Donnai-Barrow Syndrome

Symptoms & Phenotypes for Donnai-Barrow Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
large anterior fontanel

Head And Neck Ears:
low-set ears
posteriorly rotated ears
deafness, sensorineural

Head And Neck Nose:
short nose
flat nasal bridge
broad tip

Abdomen Gastroin testinal:
intestinal malrotation

Head And Neck Face:
midface hypoplasia

Growth Weight:
birth weight - 50-97th percentile

Cardiovascular Heart:
ventricular septal defect (less common)
double superior vena cava (rare)

Genitourinary Internal Genitalia Female:
bicornuate uterus (rare)

Head And Neck Eyes:
hypertelorism
cataract
retinal detachment
iris coloboma
retinal dystrophy
more
Abdomen External Features:
umbilical hernia
omphalocele

Laboratory Abnormalities:
proteinuria
urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)

Neurologic Central Nervous System:
developmental delay
partial or complete agenesis of corpus callosum

Chest Diaphragm:
diaphragmatic hernia
diaphragmatic eventration

Skin Nails Hair Skin:
underorbital skin creases

Respiratory Lung:
pulmonary hypoplasia secondary to diaphragmatic hernia

Skeletal Skull:
widened metopic suture


Clinical features from OMIM:

222448

Human phenotypes related to Donnai-Barrow Syndrome:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
3 hypertelorism 55 31 very rare (1%) Very frequent (99-80%) HP:0000316
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 global developmental delay 55 31 very rare (1%) Very frequent (99-80%) HP:0001263
6 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
7 umbilical hernia 55 31 very rare (1%) Frequent (79-30%) HP:0001537
8 short nose 55 31 very rare (1%) Very frequent (99-80%) HP:0003196
9 sensorineural hearing impairment 55 31 very rare (1%) Very frequent (99-80%) HP:0000407
10 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
11 progressive visual loss 55 31 frequent (33%) Frequent (79-30%) HP:0000529
12 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
13 broad forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000337
14 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
15 downslanted palpebral fissures 55 31 very rare (1%) Very frequent (99-80%) HP:0000494
16 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
17 intestinal malrotation 55 31 very rare (1%) Occasional (29-5%) HP:0002566
18 wide anterior fontanel 55 31 very rare (1%) Very frequent (99-80%) HP:0000260
19 proptosis 55 31 hallmark (90%) Frequent (79-30%) HP:0000520
20 iris coloboma 55 31 very rare (1%) Occasional (29-5%) HP:0000612
21 aplasia/hypoplasia of the corpus callosum 55 31 very rare (1%) Very frequent (99-80%) HP:0007370
22 congenital diaphragmatic hernia 55 31 very rare (1%) Frequent (79-30%) HP:0000776
23 omphalocele 55 31 very rare (1%) Frequent (79-30%) HP:0001539
24 retinal dystrophy 55 31 frequent (33%) Occasional (29-5%) HP:0000556
25 bicornuate uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000813
26 posteriorly rotated ears 55 31 very rare (1%) Very frequent (99-80%) HP:0000358
27 widow's peak 55 31 hallmark (90%) Very frequent (99-80%) HP:0000349
28 malar flattening 31 HP:0000272
29 low-set ears 31 frequent (33%) HP:0000369
30 cataract 31 very rare (1%) HP:0000518
31 hypoplasia of the iris 31 occasional (7.5%) HP:0007676
32 broad nasal tip 31 hallmark (90%) HP:0000455
33 abnormality of the uterus 55 Occasional (29-5%)
34 midface retrusion 31 HP:0011800
35 partial agenesis of the corpus callosum 31 HP:0001338
36 infra-orbital crease 31 hallmark (90%) HP:0100876
37 low-molecular-weight proteinuria 31 very rare (1%) HP:0003126
38 non-acidotic proximal tubulopathy 31 very rare (1%) HP:0005574
39 high myopia 31 very rare (1%) HP:0011003
40 diaphragmatic eventration 31 very rare (1%) HP:0009110

UMLS symptoms related to Donnai-Barrow Syndrome:


unspecified visual loss

Drugs & Therapeutics for Donnai-Barrow Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287

Search NIH Clinical Center for Donnai-Barrow Syndrome

Cochrane evidence based reviews: donnai-barrow syndrome

Genetic Tests for Donnai-Barrow Syndrome

Genetic tests related to Donnai-Barrow Syndrome:

# Genetic test Affiliating Genes
1 Donnai Barrow Syndrome 28 LRP2

Anatomical Context for Donnai-Barrow Syndrome

MalaCards organs/tissues related to Donnai-Barrow Syndrome:

38
Eye, Brain, Heart, Uterus, Skin

Publications for Donnai-Barrow Syndrome

Articles related to Donnai-Barrow Syndrome:

(show all 11)
# Title Authors Year
1
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. ( 29388841 )
2018
2
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. ( 25682901 )
2015
3
Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome. ( 25632217 )
2012
4
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. ( 22153411 )
2011
5
Cochlear implantation in Donnai-Barrow syndrome. ( 21756462 )
2011
6
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. ( 19952924 )
2010
7
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. ( 18553518 )
2008
8
Ocular manifestations of Donnai-Barrow syndrome. ( 17621530 )
2007
9
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. ( 16532464 )
2006
10
Donnai-Barrow syndrome: four additional patients. ( 12923867 )
2003
11
Donnai-Barrow Syndrome ( 20301732 )
1993

Variations for Donnai-Barrow Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 LRP2 p.Tyr2522His VAR_037013 rs80338747

ClinVar genetic disease variations for Donnai-Barrow Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP2 NM_004525.2(LRP2): c.1341+2T> G single nucleotide variant Pathogenic rs80338745 GRCh37 Chromosome 2, 170136858: 170136858
2 LRP2 NM_004525.2(LRP2): c.10195C> T (p.Arg3399Ter) single nucleotide variant Pathogenic rs80338752 GRCh37 Chromosome 2, 170034511: 170034511
3 LRP2 NM_004525.2(LRP2): c.8452+1G> A single nucleotide variant Pathogenic rs80338748 GRCh38 Chromosome 2, 169201627: 169201627
4 LRP2 NM_004525.2(LRP2): c.7564T> C (p.Tyr2522His) single nucleotide variant Pathogenic/Likely pathogenic rs80338747 GRCh37 Chromosome 2, 170062140: 170062140
5 LRP2 NM_004525.2(LRP2): c.9484_9485delGT (p.Val3162Leufs) deletion Pathogenic rs80338751 GRCh37 Chromosome 2, 170042373: 170042374
6 LRP2 NM_004525.2(LRP2): c.2640-1G> A single nucleotide variant Pathogenic rs587776717 GRCh37 Chromosome 2, 170112747: 170112747
7 LRP2 NM_004525.2(LRP2): c.8516_8519delTTTA (p.Tyr2840Cysfs) deletion Pathogenic rs80338749 GRCh37 Chromosome 2, 170055355: 170055358
8 LRP2 NM_004525.2(LRP2): c.11469_11472delTTTG (p.Cys3823Trpfs) deletion Pathogenic rs80338753 GRCh37 Chromosome 2, 170026237: 170026240
9 LRP2 NM_004525.2(LRP2): c.13139dupC (p.Cys4381Metfs) duplication Pathogenic rs80338754 GRCh37 Chromosome 2, 169997025: 169997025
10 LRP2 NM_004525.2(LRP2): c.770-2A> G single nucleotide variant Pathogenic rs80338743 GRCh37 Chromosome 2, 170147509: 170147509
11 LRP2 NM_004525.2(LRP2): c.9358_9359delAG (p.Ser3120Trpfs) deletion Pathogenic rs80338750 GRCh37 Chromosome 2, 170042499: 170042500
12 LRP2 NM_004525.2(LRP2): c.12437delG (p.Gly4146Glufs) deletion Pathogenic rs786205122 GRCh38 Chromosome 2, 169152823: 169152823
13 LRP2 NM_004525.2(LRP2): c.6160G> A (p.Asp2054Asn) single nucleotide variant Pathogenic rs138269726 GRCh37 Chromosome 2, 170068598: 170068598
14 LRP2 NM_004525.2(LRP2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs80338744 GRCh37 Chromosome 2, 170139461: 170139461
15 LRP2 NM_004525.2(LRP2): c.13139delC (p.Pro4380Hisfs) deletion Likely pathogenic rs764880181 GRCh38 Chromosome 2, 169140515: 169140515
16 LRP2 NM_004525.2(LRP2): c.188-2A> G single nucleotide variant Likely pathogenic rs760114690 GRCh38 Chromosome 2, 169318886: 169318886

Copy number variations for Donnai-Barrow Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 138714 2 169500000 177700000 Copy number LRP2 Donnai-Barrow syndrome

Expression for Donnai-Barrow Syndrome

Search GEO for disease gene expression data for Donnai-Barrow Syndrome.

Pathways for Donnai-Barrow Syndrome

Pathways related to Donnai-Barrow Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Donnai-Barrow Syndrome

Sources for Donnai-Barrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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