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

Aliases & Descriptions for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 54 23 50 24 25 56 66 29 13 69
Faciooculoacousticorenal Syndrome 23 50 24 25 66
Dbs/foar Syndrome 23 50 24 25 56
Foar Syndrome 23 24 25 56 66
Facio-Oculo-Acoustico-Renal Syndrome 24 56 66
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 25 56
Dbs 25 66
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 50
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 56
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 56
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 25
Holmes-Schepens Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
donnai-barrow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

HPO:

32
donnai-barrow syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 222448
Orphanet 56 ORPHA2143
MESH via Orphanet 43 C536390
UMLS via Orphanet 70 C1857277
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1857277

Summaries for Donnai-Barrow Syndrome

OMIM : 54 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 seizures, macrocephaly and hypertelorism. An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2). Affiliated tissues include heart, eye and brain.

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 : 50 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 : 66 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: NBK1878

Related Diseases for Donnai-Barrow Syndrome

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia exomphalos corpus callosum agenesis 11.2
2 parkinson disease, late-onset 11.0
3 obesity 10.2
4 focal segmental glomerulosclerosis 10.1
5 strabismus 10.1
6 optic nerve hypoplasia 10.1
7 tremor 10.0
8 essential tremor 10.0
9 dystonia 10.0
10 endotheliitis 9.9
11 glucose intolerance 9.9
12 neuropathy 9.9
13 hyperglycemia 9.8
14 lymphopenia 9.8
15 hypertriglyceridemia 9.8
16 cerebritis 9.8
17 cerebral atrophy 9.8
18 diabetic neuropathy 9.7
19 autonomic dysfunction 9.7
20 hepatitis 9.7
21 retinitis 9.7
22 restless legs syndrome 9.7
23 ischemic retinopathy 9.7
24 limb ischemia 9.7
25 kidney disease 9.7
26 renal fibrosis 9.7
27 neuronitis 9.7
28 gestational diabetes 9.7
29 hypoglycemia 9.7
30 nonalcoholic steatohepatitis 9.7
31 ischemia 9.7
32 mood disorder 9.5
33 persistent vegetative state 9.5
34 focal dystonia 9.5
35 blepharospasm 9.5
36 segmental dystonia 9.5
37 medulloblastoma 9.5
38 cervical dystonia 9.5
39 hiv-1 9.5
40 breast cancer 9.5
41 alexithymia 9.5
42 anorexia nervosa 9.5
43 lymphocytic choriomeningitis 9.5
44 pathological gambling 9.5
45 glioblastoma 9.5
46 cervicitis 9.5
47 obsessive-compulsive disorder 9.5
48 ataxia 9.5

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 by clinical synopsis from OMIM:

222448

Clinical features from OMIM:

222448

Human phenotypes related to Donnai-Barrow Syndrome:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 macrocephaly 56 32 Frequent (79-30%) HP:0000256
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
6 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
7 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
8 short nose 56 32 Very frequent (99-80%) HP:0003196
9 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
10 proteinuria 56 32 Very frequent (99-80%) HP:0000093
11 progressive visual loss 56 32 Frequent (79-30%) HP:0000529
12 broad forehead 56 32 Frequent (79-30%) HP:0000337
13 myopia 56 32 Very frequent (99-80%) HP:0000545
14 retinal detachment 56 32 Frequent (79-30%) HP:0000541
15 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
16 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
17 intestinal malrotation 56 32 Occasional (29-5%) HP:0002566
18 proptosis 56 32 Frequent (79-30%) HP:0000520
19 iris coloboma 56 32 Occasional (29-5%) HP:0000612
20 aplasia/hypoplasia of the corpus callosum 56 32 Very frequent (99-80%) HP:0007370
21 congenital diaphragmatic hernia 56 32 Frequent (79-30%) HP:0000776
22 omphalocele 56 32 Frequent (79-30%) HP:0001539
23 wide anterior fontanel 56 32 Very frequent (99-80%) HP:0000260
24 retinal dystrophy 56 32 Occasional (29-5%) HP:0000556
25 bicornuate uterus 56 32 Occasional (29-5%) HP:0000813
26 posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000358
27 widow's peak 56 32 Very frequent (99-80%) HP:0000349
28 malar flattening 32 HP:0000272
29 low-set ears 32 HP:0000369
30 cataract 32 HP:0000518
31 hypoplasia of the iris 32 HP:0007676
32 broad nasal tip 32 HP:0000455
33 abnormality of the uterus 56 Occasional (29-5%)
34 midface retrusion 32 HP:0011800
35 partial agenesis of the corpus callosum 32 HP:0001338
36 severe myopia 32 HP:0011003
37 low-molecular-weight proteinuria 32 HP:0003126
38 non-acidotic proximal tubulopathy 32 HP:0005574
39 infra-orbital crease 32 HP:0100876
40 diaphragmatic eventration 32 HP:0009110

UMLS symptoms related to Donnai-Barrow Syndrome:


unspecified visual loss

Drugs & Therapeutics for Donnai-Barrow Syndrome

Interventional clinical trials:


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

Search NIH Clinical Center for Donnai-Barrow Syndrome

Genetic Tests for Donnai-Barrow Syndrome

Genetic tests related to Donnai-Barrow Syndrome:

id Genetic test Affiliating Genes
1 Donnai Barrow Syndrome 29
2 Donnai-Barrow Syndrome 24 LRP2

Anatomical Context for Donnai-Barrow Syndrome

MalaCards organs/tissues related to Donnai-Barrow Syndrome:

39
Heart, Eye, Brain, Uterus

Publications for Donnai-Barrow Syndrome

Articles related to Donnai-Barrow Syndrome:

id Title Authors Year
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

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

66
id 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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP2 NM_004525.2(LRP2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs80338744 GRCh38 Chromosome 2, 169282951: 169282951
2 LRP2 NM_004525.2(LRP2): c.7564T> C (p.Tyr2522His) single nucleotide variant Pathogenic/Likely pathogenic rs80338747 GRCh37 Chromosome 2, 170062140: 170062140
3 LRP2 NM_004525.2(LRP2): c.9484_9485delGT (p.Val3162Leufs) deletion Pathogenic rs80338751 GRCh37 Chromosome 2, 170042373: 170042374
4 LRP2 NM_004525.2(LRP2): c.2640-1G> A single nucleotide variant Pathogenic rs587776717 GRCh37 Chromosome 2, 170112747: 170112747
5 LRP2 NM_004525.2(LRP2): c.8516_8519delTTTA (p.Tyr2840Cysfs) deletion Pathogenic rs80338749 GRCh37 Chromosome 2, 170055355: 170055358
6 LRP2 NM_004525.2(LRP2): c.8452+1G> A single nucleotide variant Pathogenic rs80338748 GRCh37 Chromosome 2, 170058137: 170058137
7 LRP2 NM_004525.2(LRP2): c.10195C> T (p.Arg3399Ter) single nucleotide variant Pathogenic rs80338752 GRCh37 Chromosome 2, 170034511: 170034511
8 LRP2 NM_004525.2(LRP2): c.1341+2T> G single nucleotide variant Pathogenic rs80338745 GRCh37 Chromosome 2, 170136858: 170136858
9 LRP2 NM_004525.2(LRP2): c.11469_11472delTTTG (p.Cys3823Trpfs) deletion Pathogenic rs80338753 GRCh37 Chromosome 2, 170026237: 170026240
10 LRP2 NM_004525.2(LRP2): c.13139dupC (p.Cys4381Metfs) duplication Pathogenic rs80338754 GRCh37 Chromosome 2, 169997025: 169997025
11 LRP2 NM_004525.2(LRP2): c.770-2A> G single nucleotide variant Pathogenic rs80338743 GRCh37 Chromosome 2, 170147509: 170147509
12 LRP2 NM_004525.2(LRP2): c.9358_9359delAG (p.Ser3120Trpfs) deletion Pathogenic rs80338750 GRCh37 Chromosome 2, 170042499: 170042500
13 LRP2 NM_004525.2(LRP2): c.12437delG (p.Gly4146Glufs) deletion Pathogenic rs786205122 GRCh38 Chromosome 2, 169152823: 169152823
14 LRP2 NM_004525.2(LRP2): c.6160G> A (p.Asp2054Asn) single nucleotide variant Pathogenic rs138269726 GRCh37 Chromosome 2, 170068598: 170068598
15 LRP2 NM_004525.2(LRP2): c.13139delC (p.Pro4380Hisfs) deletion Likely pathogenic rs764880181 GRCh37 Chromosome 2, 169997025: 169997025

Copy number variations for Donnai-Barrow Syndrome from CNVD:

7
id 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

GO Terms for Donnai-Barrow Syndrome

Sources for Donnai-Barrow Syndrome

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10 dbSNP
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65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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