DBS
MCID: DNN002
MIFTS: 55

Donnai-Barrow Syndrome (DBS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Donnai-Barrow Syndrome

MalaCards integrated aliases for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 57 12 24 53 25 59 75 37 13 44 15 73
Faciooculoacousticorenal Syndrome 57 12 24 53 25 75
Dbs/foar Syndrome 57 12 24 53 25 59
Foar Syndrome 12 24 25 59 75
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 12 25 59
Facio-Oculo-Acoustico-Renal Syndrome 12 59 75
Donnai Barrow Syndrome 76 29 6
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria 57 12
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 12 59
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 12 59
Holmes-Schepens Syndrome 12 59
Dbs 25 75
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 53
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 25
Syndrome, Donnai-Barrow 40

Characteristics:

Orphanet epidemiological data:

59
donnai-barrow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
donnai-barrow syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Donnai-Barrow Syndrome

OMIM : 57 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 strabismus and myopia, and has symptoms including unspecified visual loss An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2), and among its related pathways/superpathways are Hedgehog signaling pathway and Collagen chain trimerization. Affiliated tissues include eye, brain and heart, and related phenotypes are macrocephaly and hypertelorism

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.

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 : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Donnai´┐Ż??Barrow syndrome is a genetic disorder first described by Dian Donnai and Margaret Barrow in... 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 159)
# Related Disease Score Top Affiliating Genes
1 strabismus 30.4 COL11A1 COL2A1 COL9A1
2 myopia 30.1 COL11A1 COL18A1 COL2A1 COL9A1 LRP2
3 diaphragmatic hernia exomphalos corpus callosum agenesis 11.8
4 deep brain stimulation for movement disorders 11.6
5 parkinson disease, late-onset 11.6
6 dystonia 12 11.0
7 dystonia 11, myoclonic 11.0
8 gnao1 encephalopathy 11.0
9 microvascular complications of diabetes 3 10.5
10 microvascular complications of diabetes 4 10.5
11 microvascular complications of diabetes 6 10.5
12 microvascular complications of diabetes 7 10.5
13 fatty liver disease, nonalcoholic 1 10.4
14 hypertelorism 10.4
15 hyperglycemia 10.4
16 kidney disease 10.4
17 tremor 10.4
18 optic nerve hypoplasia, bilateral 10.3
19 focal segmental glomerulosclerosis 1 10.3
20 focal segmental glomerulosclerosis 10.3
21 nephrolithiasis 10.3
22 dystonia 10.3
23 essential tremor 10.3
24 telecanthus 10.3
25 diabetes mellitus 10.2
26 congenital intrinsic factor deficiency 10.2 AMN CUBN
27 obsessive-compulsive disorder 10.1
28 renal fibrosis 10.1
29 lipid metabolism disorder 10.1
30 neuropathy 10.1
31 fatty liver disease 10.1
32 nonalcoholic steatohepatitis 10.1
33 autosomal recessive stickler syndrome 10.1 COL11A1 COL9A1
34 movement disease 10.1
35 vitamin metabolic disorder 10.1 AMN CUBN LMBRD1
36 megaloblastic anemia 1 10.1 AMN CUBN
37 fanconi-like syndrome 10.1 CUBN LRP2
38 megaloblastic anemia 10.1 AMN CUBN LMBRD1
39 gilles de la tourette syndrome 10.1
40 leptin receptor deficiency 10.1
41 glucose intolerance 10.1
42 peripheral nervous system disease 10.1
43 complete atrioventricular canal-tetralogy of fallot syndrome 10.1 GATA4 NR2F2
44 complete atrioventricular canal-left heart obstruction syndrome 10.1 GATA4 NR2F2
45 partial atrioventricular canal 10.1 GATA4 NR2F2
46 complete atrioventricular canal-ventricle hypoplasia syndrome 10.1 GATA4 NR2F2
47 marshall syndrome 10.1 COL11A1 COL2A1
48 3-methylglutaconic aciduria, type i 10.1 AMN CUBN
49 46,xy partial gonadal dysgenesis 10.0 GATA4 ZFPM2
50 retinal perforation 10.0 COL11A1 COL2A1

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:

57
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 Gastrointestinal:
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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 very rare (1%) Very frequent (99-80%) HP:0000316
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 global developmental delay 59 32 very rare (1%) Very frequent (99-80%) HP:0001263
6 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
7 umbilical hernia 59 32 very rare (1%) Frequent (79-30%) HP:0001537
8 short nose 59 32 very rare (1%) Very frequent (99-80%) HP:0003196
9 sensorineural hearing impairment 59 32 very rare (1%) Very frequent (99-80%) HP:0000407
10 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
11 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
12 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
13 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
14 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
15 downslanted palpebral fissures 59 32 very rare (1%) Very frequent (99-80%) HP:0000494
16 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
17 intestinal malrotation 59 32 very rare (1%) Occasional (29-5%) HP:0002566
18 wide anterior fontanel 59 32 very rare (1%) Very frequent (99-80%) HP:0000260
19 proptosis 59 32 hallmark (90%) Frequent (79-30%) HP:0000520
20 iris coloboma 59 32 very rare (1%) Occasional (29-5%) HP:0000612
21 aplasia/hypoplasia of the corpus callosum 59 32 very rare (1%) Very frequent (99-80%) HP:0007370
22 congenital diaphragmatic hernia 59 32 very rare (1%) Frequent (79-30%) HP:0000776
23 omphalocele 59 32 very rare (1%) Frequent (79-30%) HP:0001539
24 retinal dystrophy 59 32 frequent (33%) Occasional (29-5%) HP:0000556
25 bicornuate uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000813
26 posteriorly rotated ears 59 32 very rare (1%) Very frequent (99-80%) HP:0000358
27 widow's peak 59 32 hallmark (90%) Very frequent (99-80%) HP:0000349
28 malar flattening 32 HP:0000272
29 low-set ears 32 frequent (33%) HP:0000369
30 cataract 32 very rare (1%) HP:0000518
31 hypoplasia of the iris 32 occasional (7.5%) HP:0007676
32 broad nasal tip 32 hallmark (90%) HP:0000455
33 abnormality of the uterus 59 Occasional (29-5%)
34 midface retrusion 32 HP:0011800
35 partial agenesis of the corpus callosum 32 HP:0001338
36 infra-orbital crease 32 hallmark (90%) HP:0100876
37 low-molecular-weight proteinuria 32 very rare (1%) HP:0003126
38 non-acidotic proximal tubulopathy 32 very rare (1%) HP:0005574
39 high myopia 32 very rare (1%) HP:0011003
40 diaphragmatic eventration 32 very rare (1%) HP:0009110

UMLS symptoms related to Donnai-Barrow Syndrome:


unspecified visual loss

MGI Mouse Phenotypes related to Donnai-Barrow Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 AMN COL18A1 COL2A1 CUBN GATA4 GSK3B
2 cellular MP:0005384 10.06 AMN COL18A1 COL2A1 COL9A1 GATA4 GSK3B
3 homeostasis/metabolism MP:0005376 10.06 ADAMTS18 COL18A1 COL2A1 COL9A1 CUBN GATA4
4 mortality/aging MP:0010768 10 AMN COL11A1 COL2A1 CUBN GATA4 GSK3B
5 digestive/alimentary MP:0005381 9.91 ADAMTS18 COL11A1 COL2A1 GATA4 GSK3B LRP2
6 respiratory system MP:0005388 9.63 ADAMTS18 COL11A1 COL2A1 GATA4 LRP2 ZFPM2
7 skeleton MP:0005390 9.56 AMN COL11A1 COL18A1 COL2A1 COL9A1 GATA4
8 vision/eye MP:0005391 9.17 ADAMTS18 AMN COL18A1 COL2A1 COL9A1 LRP2

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 29 LRP2

Anatomical Context for Donnai-Barrow Syndrome

MalaCards organs/tissues related to Donnai-Barrow Syndrome:

41
Eye, Brain, Heart, Uterus, Skin, Liver, Bone

Publications for Donnai-Barrow Syndrome

Articles related to Donnai-Barrow Syndrome:

(show all 12)
# Title Authors Year
1
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome. ( 29532936 )
2018
2
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. ( 29388841 )
2018
3
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. ( 25682901 )
2015
4
Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome. ( 25632217 )
2012
5
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. ( 22153411 )
2011
6
Cochlear implantation in Donnai-Barrow syndrome. ( 21756462 )
2011
7
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. ( 19952924 )
2010
8
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. ( 18553518 )
2008
9
Ocular manifestations of Donnai-Barrow syndrome. ( 17621530 )
2007
10
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. ( 16532464 )
2006
11
Donnai-Barrow syndrome: four additional patients. ( 12923867 )
2003
12
Donnai-Barrow Syndrome ( 20301732 )
1993

Variations for Donnai-Barrow Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 LRP2 p.Tyr2522His VAR_037013 rs80338747

ClinVar genetic disease variations for Donnai-Barrow Syndrome:

6 (show top 50) (show all 613)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP2 NM_004525.2(LRP2): c.7564T> C (p.Tyr2522His) single nucleotide variant Likely pathogenic rs80338747 GRCh37 Chromosome 2, 170062140: 170062140
2 LRP2 NM_004525.2(LRP2): c.7564T> C (p.Tyr2522His) single nucleotide variant Likely pathogenic rs80338747 GRCh38 Chromosome 2, 169205630: 169205630
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.9484_9485delGT (p.Val3162Leufs) deletion Pathogenic rs80338751 GRCh38 Chromosome 2, 169185863: 169185864
5 LRP2 NM_004525.2(LRP2): c.2640-1G> A single nucleotide variant Pathogenic rs587776717 GRCh37 Chromosome 2, 170112747: 170112747
6 LRP2 NM_004525.2(LRP2): c.2640-1G> A single nucleotide variant Pathogenic rs587776717 GRCh38 Chromosome 2, 169256237: 169256237
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.8516_8519delTTTA (p.Tyr2840Cysfs) deletion Pathogenic rs80338749 GRCh38 Chromosome 2, 169198845: 169198848
9 LRP2 NM_004525.2(LRP2): c.8452+1G> A single nucleotide variant Pathogenic rs80338748 GRCh37 Chromosome 2, 170058137: 170058137
10 LRP2 NM_004525.2(LRP2): c.8452+1G> A single nucleotide variant Pathogenic rs80338748 GRCh38 Chromosome 2, 169201627: 169201627
11 LRP2 NM_004525.2(LRP2): c.10195C> T (p.Arg3399Ter) single nucleotide variant Pathogenic rs80338752 GRCh37 Chromosome 2, 170034511: 170034511
12 LRP2 NM_004525.2(LRP2): c.10195C> T (p.Arg3399Ter) single nucleotide variant Pathogenic rs80338752 GRCh38 Chromosome 2, 169178001: 169178001
13 LRP2 NM_004525.2(LRP2): c.1341+2T> G single nucleotide variant Pathogenic rs80338745 GRCh37 Chromosome 2, 170136858: 170136858
14 LRP2 NM_004525.2(LRP2): c.1341+2T> G single nucleotide variant Pathogenic rs80338745 GRCh38 Chromosome 2, 169280348: 169280348
15 LRP2 NM_004525.2(LRP2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs80338744 GRCh37 Chromosome 2, 170139461: 170139461
16 LRP2 NM_004525.2(LRP2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs80338744 GRCh38 Chromosome 2, 169282951: 169282951
17 LRP2 NM_004525.2(LRP2): c.11469_11472delTTTG (p.Cys3823Trpfs) deletion Pathogenic rs80338753 GRCh37 Chromosome 2, 170026237: 170026240
18 LRP2 NM_004525.2(LRP2): c.11469_11472delTTTG (p.Cys3823Trpfs) deletion Pathogenic rs80338753 GRCh38 Chromosome 2, 169169727: 169169730
19 LRP2 NM_004525.2(LRP2): c.13139dupC (p.Cys4381Metfs) duplication Pathogenic rs80338754 GRCh37 Chromosome 2, 169997025: 169997025
20 LRP2 NM_004525.2(LRP2): c.13139dupC (p.Cys4381Metfs) duplication Pathogenic rs80338754 GRCh38 Chromosome 2, 169140515: 169140515
21 LRP2 NM_004525.2(LRP2): c.770-2A> G single nucleotide variant Pathogenic rs80338743 GRCh37 Chromosome 2, 170147509: 170147509
22 LRP2 NM_004525.2(LRP2): c.770-2A> G single nucleotide variant Pathogenic rs80338743 GRCh38 Chromosome 2, 169290999: 169290999
23 LRP2 NM_004525.2(LRP2): c.9358_9359delAG (p.Ser3120Trpfs) deletion Pathogenic rs80338750 GRCh37 Chromosome 2, 170042499: 170042500
24 LRP2 NM_004525.2(LRP2): c.9358_9359delAG (p.Ser3120Trpfs) deletion Pathogenic rs80338750 GRCh38 Chromosome 2, 169185989: 169185990
25 LRP2 NM_004525.2(LRP2): c.12437delG (p.Gly4146Glufs) deletion Pathogenic rs786205122 GRCh38 Chromosome 2, 169152823: 169152823
26 LRP2 NM_004525.2(LRP2): c.12437delG (p.Gly4146Glufs) deletion Pathogenic rs786205122 GRCh37 Chromosome 2, 170009333: 170009333
27 LRP2 NM_004525.2(LRP2): c.6160G> A (p.Asp2054Asn) single nucleotide variant Pathogenic rs138269726 GRCh37 Chromosome 2, 170068598: 170068598
28 LRP2 NM_004525.2(LRP2): c.6160G> A (p.Asp2054Asn) single nucleotide variant Pathogenic rs138269726 GRCh38 Chromosome 2, 169212088: 169212088
29 LRP2 NM_004525.2(LRP2): c.10503G> A (p.Gln3501=) single nucleotide variant Benign rs2229265 GRCh37 Chromosome 2, 170032989: 170032989
30 LRP2 NM_004525.2(LRP2): c.10503G> A (p.Gln3501=) single nucleotide variant Benign rs2229265 GRCh38 Chromosome 2, 169176479: 169176479
31 LRP2 NM_004525.2(LRP2): c.11092G> A (p.Val3698Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34355135 GRCh37 Chromosome 2, 170029657: 170029657
32 LRP2 NM_004525.2(LRP2): c.11092G> A (p.Val3698Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34355135 GRCh38 Chromosome 2, 169173147: 169173147
33 LRP2 NM_004525.2(LRP2): c.11601T> C (p.Cys3867=) single nucleotide variant Benign rs2229268 GRCh37 Chromosome 2, 170025083: 170025083
34 LRP2 NM_004525.2(LRP2): c.11601T> C (p.Cys3867=) single nucleotide variant Benign rs2229268 GRCh38 Chromosome 2, 169168573: 169168573
35 LRP2 NM_004525.2(LRP2): c.1167T> G (p.Asp389Glu) single nucleotide variant Benign/Likely benign rs111704488 GRCh37 Chromosome 2, 170139387: 170139387
36 LRP2 NM_004525.2(LRP2): c.1167T> G (p.Asp389Glu) single nucleotide variant Benign/Likely benign rs111704488 GRCh38 Chromosome 2, 169282877: 169282877
37 LRP2 NM_004525.2(LRP2): c.11759-5T> G single nucleotide variant Benign/Likely benign rs76488092 GRCh37 Chromosome 2, 170019115: 170019115
38 LRP2 NM_004525.2(LRP2): c.11759-5T> G single nucleotide variant Benign/Likely benign rs76488092 GRCh38 Chromosome 2, 169162605: 169162605
39 LRP2 NM_004525.2(LRP2): c.11996T> G (p.Val3999Gly) single nucleotide variant Uncertain significance rs79723119 GRCh37 Chromosome 2, 170013904: 170013904
40 LRP2 NM_004525.2(LRP2): c.11996T> G (p.Val3999Gly) single nucleotide variant Uncertain significance rs79723119 GRCh38 Chromosome 2, 169157394: 169157394
41 LRP2 NM_004525.2(LRP2): c.12151+4T> C single nucleotide variant Likely benign rs17848192 GRCh37 Chromosome 2, 170012780: 170012780
42 LRP2 NM_004525.2(LRP2): c.12151+4T> C single nucleotide variant Likely benign rs17848192 GRCh38 Chromosome 2, 169156270: 169156270
43 LRP2 NM_004525.2(LRP2): c.12280A> G (p.Lys4094Glu) single nucleotide variant Benign rs2075252 GRCh37 Chromosome 2, 170010985: 170010985
44 LRP2 NM_004525.2(LRP2): c.12280A> G (p.Lys4094Glu) single nucleotide variant Benign rs2075252 GRCh38 Chromosome 2, 169154475: 169154475
45 LRP2 NM_004525.2(LRP2): c.12628A> C (p.Ile4210Leu) single nucleotide variant Benign rs4667591 GRCh37 Chromosome 2, 170003432: 170003432
46 LRP2 NM_004525.2(LRP2): c.12628A> C (p.Ile4210Leu) single nucleotide variant Benign rs4667591 GRCh38 Chromosome 2, 169146922: 169146922
47 LRP2 NM_004525.2(LRP2): c.13113C> T (p.Ile4371=) single nucleotide variant Benign rs990626 GRCh37 Chromosome 2, 169997051: 169997051
48 LRP2 NM_004525.2(LRP2): c.13113C> T (p.Ile4371=) single nucleotide variant Benign rs990626 GRCh38 Chromosome 2, 169140541: 169140541
49 LRP2 NM_004525.2(LRP2): c.13134C> G (p.Pro4378=) single nucleotide variant Likely benign rs73970129 GRCh37 Chromosome 2, 169997030: 169997030
50 LRP2 NM_004525.2(LRP2): c.13134C> G (p.Pro4378=) single nucleotide variant Likely benign rs73970129 GRCh38 Chromosome 2, 169140520: 169140520

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:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

Pathways related to Donnai-Barrow Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 COL11A1 COL18A1 COL2A1 COL9A1
2
Show member pathways
12.17 AMN CUBN LMBRD1 LRP2
3
Show member pathways
12.01 ADAMTS18 COL11A1 COL18A1 COL2A1 COL9A1
4
Show member pathways
11.67 COL18A1 COL2A1 COL9A1
5 10.75 CUBN LMBRD1
6 10.12 AMN CUBN LMBRD1
7
Show member pathways
10 AMN CUBN

GO Terms for Donnai-Barrow Syndrome

Cellular components related to Donnai-Barrow Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.71 COL11A1 COL18A1 COL2A1 COL9A1
2 endoplasmic reticulum lumen GO:0005788 9.67 COL11A1 COL18A1 COL2A1 COL9A1
3 apical part of cell GO:0045177 9.5 AMN CUBN LRP2
4 clathrin-coated pit GO:0005905 9.43 AMN CUBN LRP2
5 endocytic vesicle GO:0030139 9.33 AMN CUBN LRP2
6 brush border membrane GO:0031526 9.13 AMN CUBN LRP2
7 collagen trimer GO:0005581 8.92 COL11A1 COL18A1 COL2A1 COL9A1

Biological processes related to Donnai-Barrow Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.71 CUBN NR2F2 ZFPM2
2 sensory perception of sound GO:0007605 9.63 COL11A1 COL2A1 LRP2
3 animal organ morphogenesis GO:0009887 9.58 COL18A1 COL9A1 GATA4
4 ventricular septum development GO:0003281 9.52 GATA4 LRP2
5 outflow tract septum morphogenesis GO:0003148 9.51 LRP2 ZFPM2
6 lipoprotein transport GO:0042953 9.49 CUBN LRP2
7 tissue homeostasis GO:0001894 9.48 COL2A1 CUBN
8 extracellular matrix organization GO:0030198 9.46 COL11A1 COL18A1 COL2A1 COL9A1
9 cartilage condensation GO:0001502 9.43 COL11A1 COL2A1
10 vitamin D metabolic process GO:0042359 9.37 CUBN LRP2
11 high-density lipoprotein particle clearance GO:0034384 9.32 AMN CUBN
12 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
13 cobalamin metabolic process GO:0009235 9.13 AMN CUBN LMBRD1
14 cobalamin transport GO:0015889 8.8 AMN CUBN LMBRD1

Molecular functions related to Donnai-Barrow Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.96 ADAMTS18 COL11A1 COL18A1 COL2A1 COL9A1 CUBN
2 RNA polymerase II transcription factor binding GO:0001085 9.33 GATA4 GSK3B ZFPM2
3 cobalamin binding GO:0031419 9.32 CUBN LMBRD1
4 extracellular matrix structural constituent GO:0005201 9.26 COL11A1 COL18A1 COL2A1 COL9A1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL11A1 COL18A1 COL2A1 COL9A1

Sources for Donnai-Barrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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