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 58 12 25 54 26 60 76 38 13 45 15 74
Faciooculoacousticorenal Syndrome 58 12 25 54 26 76
Dbs/foar Syndrome 58 12 25 54 26 60
Foar Syndrome 12 25 26 60 76
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 12 26 60
Facio-Oculo-Acoustico-Renal Syndrome 12 60 76
Donnai Barrow Syndrome 77 30 6
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria 58 12
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 12 60
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 12 60
Holmes-Schepens Syndrome 12 60
Dbs 26 76
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 54
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 26
Syndrome, Donnai-Barrow 41
Db 17

Characteristics:

Orphanet epidemiological data:

60
donnai-barrow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
donnai-barrow syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Donnai-Barrow Syndrome

OMIM : 58 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 Focal Adhesion. Affiliated tissues include eye, brain and heart, and related phenotypes are hypertelorism and intellectual disability

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 : 26 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 : 54 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 : 76 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 : 77 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 204)
# Related Disease Score Top Affiliating Genes
1 strabismus 30.4 COL11A1 COL2A1 COL9A1
2 myopia 30.0 COL11A1 COL18A1 COL2A1
3 diaphragmatic hernia exomphalos corpus callosum agenesis 11.9
4 deep brain stimulation for movement disorders 11.7
5 parkinson disease, late-onset 11.6
6 dystonia 12 11.4
7 dystonia 11, myoclonic 11.1
8 gnao1 encephalopathy 11.1
9 microvascular complications of diabetes 3 10.7
10 microvascular complications of diabetes 4 10.7
11 microvascular complications of diabetes 6 10.7
12 microvascular complications of diabetes 7 10.7
13 kidney disease 10.6
14 hyperglycemia 10.6
15 fatty liver disease, nonalcoholic 1 10.5
16 dystonia 10.5
17 diabetes mellitus, noninsulin-dependent 10.5
18 tremor 10.5
19 hypertelorism 10.4
20 optic nerve hypoplasia, bilateral 10.4
21 focal segmental glomerulosclerosis 1 10.4
22 focal segmental glomerulosclerosis 10.4
23 nephrolithiasis 10.4
24 mechanical strabismus 10.4
25 essential tremor 10.3
26 diabetes mellitus 10.3
27 lipid metabolism disorder 10.3
28 congenital intrinsic factor deficiency 10.3 AMN CUBN
29 neuropathy 10.3
30 autosomal recessive stickler syndrome 10.3 COL11A1 COL9A1
31 fatty liver disease 10.3
32 telecanthus 10.3
33 megaloblastic anemia 1 10.3 AMN CUBN
34 fanconi-like syndrome 10.2 CUBN LRP2
35 3-methylglutaconic aciduria, type i 10.2 AMN CUBN
36 obsessive-compulsive disorder 10.2
37 body mass index quantitative trait locus 11 10.2
38 body mass index quantitative trait locus 8 10.2
39 body mass index quantitative trait locus 10 10.2
40 body mass index quantitative trait locus 7 10.2
41 body mass index quantitative trait locus 14 10.2
42 microvascular complications of diabetes 5 10.2
43 body mass index quantitative trait locus 18 10.2
44 body mass index quantitative trait locus 19 10.2
45 liver disease 10.2
46 vitamin metabolic disorder 10.2 AMN CUBN LMBRD1
47 movement disease 10.2
48 megaloblastic anemia 10.2 AMN CUBN LMBRD1
49 dent disease 1 10.2 CUBN LRP2
50 leptin receptor deficiency 10.1

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



Diseases related to Donnai-Barrow Syndrome

Symptoms & Phenotypes for Donnai-Barrow Syndrome

Human phenotypes related to Donnai-Barrow Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 very rare (1%) Very frequent (99-80%) HP:0000316
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 60 33 very rare (1%) Very frequent (99-80%) HP:0001263
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 short nose 60 33 very rare (1%) Very frequent (99-80%) HP:0003196
6 sensorineural hearing impairment 60 33 very rare (1%) Very frequent (99-80%) HP:0000407
7 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
8 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
9 downslanted palpebral fissures 60 33 very rare (1%) Very frequent (99-80%) HP:0000494
10 wide anterior fontanel 60 33 very rare (1%) Very frequent (99-80%) HP:0000260
11 proptosis 60 33 hallmark (90%) Frequent (79-30%) HP:0000520
12 aplasia/hypoplasia of the corpus callosum 60 33 very rare (1%) Very frequent (99-80%) HP:0007370
13 posteriorly rotated ears 60 33 very rare (1%) Very frequent (99-80%) HP:0000358
14 widow's peak 60 33 hallmark (90%) Very frequent (99-80%) HP:0000349
15 broad nasal tip 33 hallmark (90%) HP:0000455
16 infra-orbital crease 33 hallmark (90%) HP:0100876
17 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
18 umbilical hernia 60 33 very rare (1%) Frequent (79-30%) HP:0001537
19 progressive visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000529
20 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
21 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
22 congenital diaphragmatic hernia 60 33 very rare (1%) Frequent (79-30%) HP:0000776
23 omphalocele 60 33 very rare (1%) Frequent (79-30%) HP:0001539
24 retinal dystrophy 60 33 frequent (33%) Occasional (29-5%) HP:0000556
25 low-set ears 33 frequent (33%) HP:0000369
26 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
27 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
28 intestinal malrotation 60 33 very rare (1%) Occasional (29-5%) HP:0002566
29 iris coloboma 60 33 very rare (1%) Occasional (29-5%) HP:0000612
30 bicornuate uterus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000813
31 hypoplasia of the iris 33 occasional (7.5%) HP:0007676
32 cataract 33 very rare (1%) HP:0000518
33 low-molecular-weight proteinuria 33 very rare (1%) HP:0003126
34 non-acidotic proximal tubulopathy 33 very rare (1%) HP:0005574
35 diaphragmatic eventration 33 very rare (1%) HP:0009110
36 high myopia 33 very rare (1%) HP:0011003
37 malar flattening 33 HP:0000272
38 abnormality of the uterus 60 Occasional (29-5%)
39 midface retrusion 33 HP:0011800
40 partial agenesis of the corpus callosum 33 HP:0001338

Symptoms via clinical synopsis from OMIM:

58
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

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

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)

Chest Diaphragm:
diaphragmatic eventration
diaphragmatic hernia

Head And Neck Face:
midface hypoplasia

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

UMLS symptoms related to Donnai-Barrow Syndrome:


unspecified visual loss

MGI Mouse Phenotypes related to Donnai-Barrow Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 AMN COL18A1 COL2A1 CUBN GATA4 GSK3B
2 cellular MP:0005384 10.16 AMN BEST1 COL18A1 COL2A1 COL9A1 GATA4
3 homeostasis/metabolism MP:0005376 10.1 COL18A1 COL2A1 COL9A1 CUBN GATA4 GSK3B
4 mortality/aging MP:0010768 10.06 AMN COL11A1 COL2A1 CUBN GATA4 GSK3B
5 digestive/alimentary MP:0005381 9.91 COL11A1 COL2A1 GATA4 GSK3B LRP2 NR2F2
6 nervous system MP:0003631 9.86 AMN COL11A1 COL18A1 COL2A1 GATA4 GSK3B
7 limbs/digits/tail MP:0005371 9.77 COL11A1 COL2A1 COL9A1 GATA4 LRP2
8 skeleton MP:0005390 9.56 AMN COL11A1 COL18A1 COL2A1 COL9A1 GATA4
9 pigmentation MP:0001186 9.46 BEST1 COL18A1 LRP2 NR2F2
10 vision/eye MP:0005391 9.17 AMN BEST1 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 30 LRP2

Anatomical Context for Donnai-Barrow Syndrome

MalaCards organs/tissues related to Donnai-Barrow Syndrome:

42
Eye, Brain, Heart, Uterus, Liver, Skin, Bone

Publications for Donnai-Barrow Syndrome

Articles related to Donnai-Barrow Syndrome:

(show all 15)
# 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
Diagnostic exome sequencing in persons with severe intellectual disability. ( 23033978 )
2012
6
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. ( 22153411 )
2011
7
Cochlear implantation in Donnai-Barrow syndrome. ( 21756462 )
2011
8
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. ( 19952924 )
2010
9
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. ( 18553518 )
2008
10
Ocular manifestations of Donnai-Barrow syndrome. ( 17621530 )
2007
11
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. ( 17632512 )
2007
12
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. ( 16532464 )
2006
13
Donnai-Barrow syndrome: four additional patients. ( 12923867 )
2003
14
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. ( 9475100 )
1998
15
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? ( 8266995 )
1993

Variations for Donnai-Barrow Syndrome

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

76
# 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 512)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP2 NM_004525.3(LRP2): c.170C> T (p.Ala57Val) single nucleotide variant Uncertain significance rs115350461 GRCh37 Chromosome 2, 170177304: 170177304
2 LRP2 NM_004525.3(LRP2): c.170C> T (p.Ala57Val) single nucleotide variant Uncertain significance rs115350461 GRCh38 Chromosome 2, 169320794: 169320794
3 LRP2 NM_004525.3(LRP2): c.403G> A (p.Asp135Asn) single nucleotide variant Uncertain significance rs142594441 GRCh37 Chromosome 2, 170163815: 170163815
4 LRP2 NM_004525.3(LRP2): c.403G> A (p.Asp135Asn) single nucleotide variant Uncertain significance rs142594441 GRCh38 Chromosome 2, 169307305: 169307305
5 LRP2 NM_004525.2(LRP2): c.428-10_428-8delTTT deletion Uncertain significance rs370823033 GRCh37 Chromosome 2, 170151228: 170151230
6 LRP2 NM_004525.2(LRP2): c.428-10_428-8delTTT deletion Uncertain significance rs370823033 GRCh38 Chromosome 2, 169294718: 169294720
7 LRP2 NM_004525.2(LRP2): c.428-9_428-8delTT deletion Benign rs370823033 GRCh37 Chromosome 2, 170151228: 170151229
8 LRP2 NM_004525.2(LRP2): c.428-9_428-8delTT deletion Benign rs370823033 GRCh38 Chromosome 2, 169294718: 169294719
9 LRP2 NM_004525.2(LRP2): c.428-6delC deletion Uncertain significance rs886055093 GRCh37 Chromosome 2, 170151226: 170151226
10 LRP2 NM_004525.2(LRP2): c.428-6delC deletion Uncertain significance rs886055093 GRCh38 Chromosome 2, 169294716: 169294716
11 LRP2 NM_004525.3(LRP2): c.770-12T> C single nucleotide variant Uncertain significance rs138572086 GRCh37 Chromosome 2, 170147519: 170147519
12 LRP2 NM_004525.3(LRP2): c.770-12T> C single nucleotide variant Uncertain significance rs138572086 GRCh38 Chromosome 2, 169291009: 169291009
13 LRP2 NM_004525.3(LRP2): c.2908+11T> C single nucleotide variant Uncertain significance rs886055088 GRCh37 Chromosome 2, 170103877: 170103877
14 LRP2 NM_004525.3(LRP2): c.2908+11T> C single nucleotide variant Uncertain significance rs886055088 GRCh38 Chromosome 2, 169247367: 169247367
15 LRP2 NM_004525.3(LRP2): c.3667+10A> G single nucleotide variant Uncertain significance rs374683235 GRCh37 Chromosome 2, 170099456: 170099456
16 LRP2 NM_004525.3(LRP2): c.3667+10A> G single nucleotide variant Uncertain significance rs374683235 GRCh38 Chromosome 2, 169242946: 169242946
17 LRP2 NM_004525.3(LRP2): c.3843A> C (p.Gly1281=) single nucleotide variant Uncertain significance rs886055087 GRCh37 Chromosome 2, 170097700: 170097700
18 LRP2 NM_004525.3(LRP2): c.3843A> C (p.Gly1281=) single nucleotide variant Uncertain significance rs886055087 GRCh38 Chromosome 2, 169241190: 169241190
19 LRP2 NM_004525.3(LRP2): c.5123G> A (p.Arg1708His) single nucleotide variant Uncertain significance rs142221587 GRCh37 Chromosome 2, 170088328: 170088328
20 LRP2 NM_004525.3(LRP2): c.5123G> A (p.Arg1708His) single nucleotide variant Uncertain significance rs142221587 GRCh38 Chromosome 2, 169231818: 169231818
21 LRP2 NM_004525.3(LRP2): c.5702C> G (p.Ala1901Gly) single nucleotide variant Likely benign rs61995913 GRCh38 Chromosome 2, 169216377: 169216377
22 LRP2 NM_004525.3(LRP2): c.6040+3A> G single nucleotide variant Uncertain significance rs758556195 GRCh37 Chromosome 2, 170070164: 170070164
23 LRP2 NM_004525.3(LRP2): c.6040+3A> G single nucleotide variant Uncertain significance rs758556195 GRCh38 Chromosome 2, 169213654: 169213654
24 LRP2 NM_004525.3(LRP2): c.6545G> A (p.Arg2182His) single nucleotide variant Uncertain significance rs199813044 GRCh37 Chromosome 2, 170063685: 170063685
25 LRP2 NM_004525.3(LRP2): c.6545G> A (p.Arg2182His) single nucleotide variant Uncertain significance rs199813044 GRCh38 Chromosome 2, 169207175: 169207175
26 LRP2 NM_004525.3(LRP2): c.6784C> T (p.Arg2262Cys) single nucleotide variant Uncertain significance rs751639325 GRCh37 Chromosome 2, 170063446: 170063446
27 LRP2 NM_004525.3(LRP2): c.6784C> T (p.Arg2262Cys) single nucleotide variant Uncertain significance rs751639325 GRCh38 Chromosome 2, 169206936: 169206936
28 LRP2 NM_004525.2(LRP2): c.6810G> A (p.Val2270=) single nucleotide variant Likely benign rs2228170 GRCh37 Chromosome 2, 170063420: 170063420
29 LRP2 NM_004525.2(LRP2): c.6810G> A (p.Val2270=) single nucleotide variant Likely benign rs2228170 GRCh38 Chromosome 2, 169206910: 169206910
30 LRP2 NM_004525.3(LRP2): c.6967C> T (p.Leu2323=) single nucleotide variant Uncertain significance rs149367019 GRCh37 Chromosome 2, 170063263: 170063263
31 LRP2 NM_004525.3(LRP2): c.6967C> T (p.Leu2323=) single nucleotide variant Uncertain significance rs149367019 GRCh38 Chromosome 2, 169206753: 169206753
32 LRP2 NM_004525.3(LRP2): c.7801T> C (p.Tyr2601His) single nucleotide variant Uncertain significance rs554748412 GRCh37 Chromosome 2, 170060696: 170060696
33 LRP2 NM_004525.3(LRP2): c.7801T> C (p.Tyr2601His) single nucleotide variant Uncertain significance rs554748412 GRCh38 Chromosome 2, 169204186: 169204186
34 LRP2 NM_004525.2(LRP2): c.8112C> A (p.Ser2704=) single nucleotide variant Uncertain significance rs148473513 GRCh37 Chromosome 2, 170059363: 170059363
35 LRP2 NM_004525.2(LRP2): c.8112C> A (p.Ser2704=) single nucleotide variant Uncertain significance rs148473513 GRCh38 Chromosome 2, 169202853: 169202853
36 LRP2 NM_004525.3(LRP2): c.64C> T (p.Pro22Ser) single nucleotide variant Uncertain significance rs759114383 GRCh38 Chromosome 2, 169362336: 169362336
37 LRP2 NM_004525.3(LRP2): c.64C> T (p.Pro22Ser) single nucleotide variant Uncertain significance rs759114383 GRCh37 Chromosome 2, 170218846: 170218846
38 LRP2 NM_004525.2(LRP2): c.428-8delT deletion Uncertain significance rs370823033 GRCh37 Chromosome 2, 170151228: 170151228
39 LRP2 NM_004525.3(LRP2): c.863G> A (p.Gly288Glu) single nucleotide variant Uncertain significance rs147110349 GRCh37 Chromosome 2, 170147414: 170147414
40 LRP2 NM_004525.3(LRP2): c.863G> A (p.Gly288Glu) single nucleotide variant Uncertain significance rs147110349 GRCh38 Chromosome 2, 169290904: 169290904
41 LRP2 NM_004525.2(LRP2): c.2079C> T (p.Phe693=) single nucleotide variant Uncertain significance rs145709922 GRCh37 Chromosome 2, 170129474: 170129474
42 LRP2 NM_004525.2(LRP2): c.2079C> T (p.Phe693=) single nucleotide variant Uncertain significance rs145709922 GRCh38 Chromosome 2, 169272964: 169272964
43 LRP2 NM_004525.2(LRP2): c.2513+14T> C single nucleotide variant Uncertain significance rs201785482 GRCh37 Chromosome 2, 170115521: 170115521
44 LRP2 NM_004525.2(LRP2): c.2513+14T> C single nucleotide variant Uncertain significance rs201785482 GRCh38 Chromosome 2, 169259011: 169259011
45 LRP2 NM_004525.2(LRP2): c.2934G> A (p.Thr978=) single nucleotide variant Likely benign rs17848143 GRCh37 Chromosome 2, 170103471: 170103471
46 LRP2 NM_004525.2(LRP2): c.2934G> A (p.Thr978=) single nucleotide variant Likely benign rs17848143 GRCh38 Chromosome 2, 169246961: 169246961
47 LRP2 NM_004525.2(LRP2): c.3122A> G (p.Asn1041Ser) single nucleotide variant Uncertain significance rs143028579 GRCh37 Chromosome 2, 170103283: 170103283
48 LRP2 NM_004525.2(LRP2): c.3122A> G (p.Asn1041Ser) single nucleotide variant Uncertain significance rs143028579 GRCh38 Chromosome 2, 169246773: 169246773
49 LRP2 NM_004525.3(LRP2): c.3551-9C> A single nucleotide variant Uncertain significance rs373882047 GRCh37 Chromosome 2, 170099591: 170099591
50 LRP2 NM_004525.3(LRP2): c.3551-9C> A single nucleotide variant Uncertain significance rs373882047 GRCh38 Chromosome 2, 169243081: 169243081

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:

38
# 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
12.55 COL11A1 COL2A1 COL9A1 GSK3B
2
Show member pathways
12.43 COL11A1 COL18A1 COL2A1 COL9A1
3
Show member pathways
12.32 COL11A1 COL18A1 COL2A1 COL9A1
4
Show member pathways
12.06 AMN CUBN LMBRD1 LRP2
5
Show member pathways
11.86 COL11A1 COL18A1 COL2A1 COL9A1
6
Show member pathways
11.62 COL18A1 COL2A1 COL9A1
7 10.7 CUBN LMBRD1
8 10.64 COL11A1 COL18A1 COL2A1 COL9A1
9 10.12 AMN CUBN LMBRD1
10
Show member pathways
9.8 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 16)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.73 AMN CUBN LRP2
2 sensory perception of sound GO:0007605 9.63 COL11A1 COL2A1 LRP2
3 extracellular matrix organization GO:0030198 9.56 COL9A1 COL18A1 COL2A1 COL11A1
4 in utero embryonic development GO:0001701 9.55 NR2F2 ZFPM2
5 ventricular septum development GO:0003281 9.54 GATA4 LRP2
6 outflow tract septum morphogenesis GO:0003148 9.52 LRP2 ZFPM2
7 lipoprotein transport GO:0042953 9.51 CUBN LRP2
8 tissue homeostasis GO:0001894 9.49 COL2A1 CUBN
9 cartilage condensation GO:0001502 9.48 COL11A1 COL2A1
10 visual perception GO:0007601 9.46 COL2A1 COL18A1 BEST1 COL11A1
11 animal organ morphogenesis GO:0009887 9.43 COL18A1 COL9A1
12 vitamin D metabolic process GO:0042359 9.4 CUBN LRP2
13 high-density lipoprotein particle clearance GO:0034384 9.37 AMN CUBN
14 proteoglycan metabolic process GO:0006029 9.32 COL11A1 COL2A1
15 cobalamin metabolic process GO:0009235 9.13 CUBN LMBRD1 AMN
16 cobalamin transport GO:0015889 8.8 LMBRD1 AMN CUBN

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 9.97 COL11A1 COL18A1 COL2A1 COL9A1 CUBN GATA4
2 RNA polymerase II transcription factor binding GO:0001085 9.33 GATA4 ZFPM2 GSK3B
3 cobalamin binding GO:0031419 9.26 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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