MCID: DNN002
MIFTS: 43

Donnai-Barrow Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear 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 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 diaphragmatic hernia exomphalos corpus callosum agenesis and parkinson disease, late-onset, 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 Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye, heart and brain, and related phenotypes are proteinuria and macrocephaly

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–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 79)
# 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 optic nerve hypoplasia, bilateral 10.2
7 strabismus 10.2
8 focal segmental glomerulosclerosis 1 10.2
9 focal segmental glomerulosclerosis 10.2
10 nephrolithiasis 10.2
11 tremor 10.2
12 leptin receptor deficiency 10.1
13 hepatitis 10.1
14 essential tremor 10.1
15 diabetes mellitus, noninsulin-dependent 10.1
16 microvascular complications of diabetes 3 10.1
17 microvascular complications of diabetes 4 10.1
18 microvascular complications of diabetes 6 10.1
19 microvascular complications of diabetes 7 10.1
20 hyperglycemia 10.1
21 dystonia 10.1
22 endotheliitis 10.1
23 glucose intolerance 10.0
24 neuropathy 10.0
25 aging 9.9
26 neuronitis 9.9
27 fatty liver disease, nonalcoholic 1 9.9
28 diabetic encephalopathy 9.9
29 pancreatitis 9.9
30 peripheral nervous system disease 9.9
31 lymphopenia 9.9
32 encephalopathy 9.9
33 cerebritis 9.8
34 cerebral atrophy 9.8
35 osteoporosis 9.8
36 microvascular complications of diabetes 5 9.8
37 diabetes mellitus 9.8
38 diabetic neuropathy 9.8
39 restless legs syndrome 9.8
40 limb ischemia 9.8
41 renal fibrosis 9.8
42 gestational diabetes 9.8
43 impotence 9.8
44 ischemia 9.8
45 retinitis 9.8
46 kidney disease 9.8
47 choline deficiency disease 9.8
48 fatty liver disease 9.8
49 hypoglycemia 9.8
50 type i 9.8

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

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 29 LRP2

Anatomical Context for Donnai-Barrow Syndrome

MalaCards organs/tissues related to Donnai-Barrow Syndrome:

41
Eye, Heart, Brain, Uterus, Skin

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 410)
# 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.13685T> C (p.Val4562Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142245618 GRCh37 Chromosome 2, 169989127: 169989127
30 LRP2 NM_004525.2(LRP2): c.13685T> C (p.Val4562Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142245618 GRCh38 Chromosome 2, 169132617: 169132617
31 LRP2 NM_004525.2(LRP2): c.13610A> C (p.Gln4537Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs188918037 GRCh37 Chromosome 2, 169993912: 169993912
32 LRP2 NM_004525.2(LRP2): c.13610A> C (p.Gln4537Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs188918037 GRCh38 Chromosome 2, 169137402: 169137402
33 LRP2 NM_004525.2(LRP2): c.13139delC (p.Pro4380Hisfs) deletion Likely pathogenic rs764880181 GRCh38 Chromosome 2, 169140515: 169140515
34 LRP2 NM_004525.2(LRP2): c.13139delC (p.Pro4380Hisfs) deletion Likely pathogenic rs764880181 GRCh37 Chromosome 2, 169997025: 169997025
35 LRP2 NM_004525.2(LRP2): c.12725A> G (p.Asp4242Gly) single nucleotide variant Uncertain significance rs35942532 GRCh38 Chromosome 2, 169146825: 169146825
36 LRP2 NM_004525.2(LRP2): c.12725A> G (p.Asp4242Gly) single nucleotide variant Uncertain significance rs35942532 GRCh37 Chromosome 2, 170003335: 170003335
37 LRP2 NM_004525.2(LRP2): c.12296-4G> A single nucleotide variant Uncertain significance rs375166826 GRCh38 Chromosome 2, 169152968: 169152968
38 LRP2 NM_004525.2(LRP2): c.12296-4G> A single nucleotide variant Uncertain significance rs375166826 GRCh37 Chromosome 2, 170009478: 170009478
39 LRP2 NM_004525.2(LRP2): c.8892G> A (p.Arg2964=) single nucleotide variant Uncertain significance rs149148763 GRCh37 Chromosome 2, 170048482: 170048482
40 LRP2 NM_004525.2(LRP2): c.8892G> A (p.Arg2964=) single nucleotide variant Uncertain significance rs149148763 GRCh38 Chromosome 2, 169191972: 169191972
41 LRP2 NM_004525.2(LRP2): c.4351G> T (p.Val1451Phe) single nucleotide variant Uncertain significance rs146289506 GRCh38 Chromosome 2, 169238246: 169238246
42 LRP2 NM_004525.2(LRP2): c.4351G> T (p.Val1451Phe) single nucleotide variant Uncertain significance rs146289506 GRCh37 Chromosome 2, 170094756: 170094756
43 LRP2 NM_004525.2(LRP2): c.3110G> A (p.Arg1037Lys) single nucleotide variant Uncertain significance rs147058423 GRCh37 Chromosome 2, 170103295: 170103295
44 LRP2 NM_004525.2(LRP2): c.3110G> A (p.Arg1037Lys) single nucleotide variant Uncertain significance rs147058423 GRCh38 Chromosome 2, 169246785: 169246785
45 LRP2 NM_004525.2(LRP2): c.987G> A (p.Ala329=) single nucleotide variant Uncertain significance rs141751667 GRCh38 Chromosome 2, 169289081: 169289081
46 LRP2 NM_004525.2(LRP2): c.987G> A (p.Ala329=) single nucleotide variant Uncertain significance rs141751667 GRCh37 Chromosome 2, 170145591: 170145591
47 LRP2 NM_004525.2(LRP2): c.188-2A> G single nucleotide variant Likely pathogenic rs760114690 GRCh38 Chromosome 2, 169318886: 169318886
48 LRP2 NM_004525.2(LRP2): c.188-2A> G single nucleotide variant Likely pathogenic rs760114690 GRCh37 Chromosome 2, 170175396: 170175396
49 LMBRD1 NM_018368.3(LMBRD1): c.981-3dupT duplication Conflicting interpretations of pathogenicity rs202207965 GRCh37 Chromosome 6, 70411440: 70411440
50 LMBRD1 NM_018368.3(LMBRD1): c.981-3dupT duplication Conflicting interpretations of pathogenicity rs202207965 GRCh38 Chromosome 6, 69701548: 69701548

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

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 lysosome GO:0005764 8.96 LMBRD1 LRP2
2 lysosomal membrane GO:0005765 8.62 LMBRD1 LRP2

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
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49 NCI
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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
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74 UMLS via Orphanet
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