DBS
MCID: DNN002
MIFTS: 56

Donnai-Barrow Syndrome (DBS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Donnai-Barrow Syndrome

MalaCards integrated aliases for Donnai-Barrow Syndrome:

Name: Donnai-Barrow Syndrome 56 12 24 52 25 58 73 36 29 13 6 43 15 71
Faciooculoacousticorenal Syndrome 56 12 24 52 25 73
Dbs/foar Syndrome 56 12 24 52 25 58
Foar Syndrome 12 24 25 58 73
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 12 25 58
Facio-Oculo-Acoustico-Renal Syndrome 12 58 73
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria 56 12
Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness 12 58
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome 12 58
Holmes-Schepens Syndrome 12 58
Dbs 25 73
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness and Proteinuria 52
Syndrome of Ocular and Facial Anomalies, Telecanthus and Hearing Loss 58
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome 58
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis 25
Syndrome, Donnai-Barrow 39
Donnai Barrow Syndrome 74

Characteristics:

Orphanet epidemiological data:

58
donnai-barrow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
donnai-barrow syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Donnai-Barrow Syndrome

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. Individuals with Donnai-Barrow syndrome have severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). In addition, they often experience vision problems, including extreme nearsightedness (high myopia), detachment or deterioration of the light-sensitive tissue in the back of the eye (the retina), and progressive vision loss. Some have a gap or split in the colored part of the eye (iris coloboma). In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent. Affected individuals may also have other structural abnormalities of the brain. They generally have mild to moderate intellectual disability and developmental delay. People with Donnai-Barrow syndrome may also have a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a congenital diaphragmatic hernia. This potentially serious birth defect allows the stomach and intestines to move into the chest and possibly crowd the developing heart and lungs. An opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel may also occur in affected individuals. Occasionally people with Donnai-Barrow syndrome have abnormalities of the intestine, heart, or other organs.

MalaCards based summary : Donnai-Barrow Syndrome, also known as faciooculoacousticorenal syndrome, is related to lowe oculocerebrorenal syndrome and dent disease 1, 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 brain, heart and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome that is 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 LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Donnai-Barrow syndrome is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial features (ocular hypertelorism, enlarged fontanelle), ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2.

UniProtKB/Swiss-Prot : 73 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 : 74 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 376)
# Related Disease Score Top Affiliating Genes
1 lowe oculocerebrorenal syndrome 30.8 OCRL LRP2 CLCN5
2 dent disease 1 30.7 OCRL LRP2 CUBN CLCN5
3 nephrocalcinosis 30.5 OCRL LRP2 CLCN5
4 diaphragmatic hernia, congenital 30.2 ZFPM2 STRA6 SHH LRP2
5 diaphragmatic hernia exomphalos corpus callosum agenesis 12.0
6 deep brain stimulation for movement disorders 11.8
7 parkinson disease, late-onset 11.8
8 tremor 11.6
9 dystonia 12 11.5
10 dystonia 11, myoclonic 11.2
11 epileptic encephalopathy, early infantile, 17 11.2
12 sudden sensorineural hearing loss 11.2
13 microvascular complications of diabetes 3 11.0
14 microvascular complications of diabetes 4 11.0
15 microvascular complications of diabetes 6 11.0
16 microvascular complications of diabetes 7 11.0
17 hyperglycemia 10.9
18 hyperinsulinism 10.8
19 joint laxity, short stature, and myopia 10.8
20 myopia 10.8
21 hypertelorism 10.7
22 fatty liver disease 10.7
23 fatty liver disease, nonalcoholic 1 10.7
24 autosomal recessive disease 10.7
25 lipid metabolism disorder 10.7
26 retinal detachment 10.7
27 dystonia 10.7
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
29 omphalocele 10.6
30 sensorineural hearing loss 10.6
31 non-alcoholic fatty liver disease 10.6
32 glucose intolerance 10.6
33 renal fibrosis 10.6
34 microvascular complications of diabetes 5 10.5
35 movement disease 10.5
36 essential tremor 10.5
37 branchiootic syndrome 1 10.5
38 alacrima, achalasia, and mental retardation syndrome 10.5
39 alport syndrome 1, x-linked 10.5
40 diabetes mellitus, noninsulin-dependent 10.5
41 volvulus of midgut 10.5
42 end stage renal disease 10.5
43 diabetic neuropathy 10.4
44 atrial standstill 1 10.4
45 kidney disease 10.4
46 hypertriglyceridemia, familial 10.4
47 neuropathy 10.4
48 coloboma of macula 10.4
49 optic nerve hypoplasia, bilateral 10.4
50 strabismus 10.4

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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 hypertelorism 58 31 very rare (1%) Very frequent (99-80%) HP:0000316
5 short nose 58 31 very rare (1%) Very frequent (99-80%) HP:0003196
6 sensorineural hearing impairment 58 31 very rare (1%) Very frequent (99-80%) HP:0000407
7 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
8 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
9 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
10 proptosis 58 31 hallmark (90%) Frequent (79-30%) HP:0000520
11 wide anterior fontanel 58 31 very rare (1%) Very frequent (99-80%) HP:0000260
12 aplasia/hypoplasia of the corpus callosum 58 31 very rare (1%) Very frequent (99-80%) HP:0007370
13 posteriorly rotated ears 58 31 very rare (1%) Very frequent (99-80%) HP:0000358
14 widow's peak 58 31 hallmark (90%) Very frequent (99-80%) HP:0000349
15 infra-orbital crease 31 hallmark (90%) HP:0100876
16 broad nasal tip 31 hallmark (90%) HP:0000455
17 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
18 umbilical hernia 58 31 very rare (1%) Frequent (79-30%) HP:0001537
19 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
20 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
21 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
22 congenital diaphragmatic hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000776
23 omphalocele 58 31 very rare (1%) Frequent (79-30%) HP:0001539
24 retinal dystrophy 58 31 frequent (33%) Occasional (29-5%) HP:0000556
25 low-set ears 31 frequent (33%) HP:0000369
26 iris coloboma 58 31 very rare (1%) Occasional (29-5%) HP:0000612
27 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
28 intestinal malrotation 58 31 very rare (1%) Occasional (29-5%) HP:0002566
29 bicornuate uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000813
30 hypoplasia of the iris 31 occasional (7.5%) HP:0007676
31 seizure 31 occasional (7.5%) HP:0001250
32 cataract 31 very rare (1%) HP:0000518
33 high myopia 31 very rare (1%) HP:0011003
34 low-molecular-weight proteinuria 31 very rare (1%) HP:0003126
35 non-acidotic proximal tubulopathy 31 very rare (1%) HP:0005574
36 diaphragmatic eventration 31 very rare (1%) HP:0009110
37 seizures 58 Occasional (29-5%)
38 abnormality of the uterus 58 Occasional (29-5%)
39 malar flattening 31 HP:0000272
40 midface retrusion 31 HP:0011800
41 partial agenesis of the corpus callosum 31 HP:0001338

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
hypertelorism
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)

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 Head:
macrocephaly
large anterior fontanel

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

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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 AMN CUBN GC LMBRD1 LRP2 SHH
2 no phenotypic analysis MP:0003012 9.1 CLCN5 GRID2IP LRP2 SHH STRA6 ZFPM2

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:

40
Brain, Heart, Eye, Retina, Lung, Uterus, Skin

Publications for Donnai-Barrow Syndrome

Articles related to Donnai-Barrow Syndrome:

(show all 48)
# Title Authors PMID Year
1
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 61 24 6 56
17632512 2007
2
Donnai-Barrow syndrome: four additional patients. 61 56 6 24
12923867 2003
3
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. 24 56 6
9475100 1998
4
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? 56 24 6
8266995 1993
5
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 24 56 61
18553518 2008
6
Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review. 56 24
9066882 1997
7
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. 24 56
9021018 1997
8
Syndrome of ocular and facial anomalies, telecanthus, and deafness. 56 24
4626128 1972
9
Donnai-Barrow Syndrome 61 6
20301732 2008
10
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome. 24 61
29532936 2018
11
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. 24 61
29388841 2018
12
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. 61 24
25682901 2015
13
Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice. 61 24
24980834 2014
14
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. 61 24
23992033 2014
15
Diagnostic exome sequencing in persons with severe intellectual disability. 6
23033978 2012
16
Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome. 61 24
25632217 2012
17
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. 24 61
19952924 2010
18
Ocular manifestations of Donnai-Barrow syndrome. 61 24
17621530 2007
19
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. 56
10794262 2000
20
CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY. 56
14042467 1963
21
Reevaluating the role of megalin in renal vitamin D homeostasis using a human cell-derived microphysiological system 24
29999169 2018
22
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. 24
28497274 2017
23
LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease. 24
26872844 2016
24
Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development. 24
26822476 2016
25
LRP2 Acts as SHH Clearance Receptor to Protect the Retinal Margin from Mitogenic Stimuli. 24
26439398 2015
26
In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. 24
25822460 2015
27
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
28
Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia. 24
26107939 2015
29
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. 24
23048173 2013
30
Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. 24
21379331 2011
31
A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. 24
19577669 2009
32
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. 24
19089858 2009
33
The role of megalin (LRP-2/Gp330) during development. 24
16828734 2006
34
Elucidation of megalin/LRP2-dependent endocytic transport processes in the larval zebrafish pronephros. 24
16638803 2006
35
Megalin and cubilin: multifunctional endocytic receptors. 24
11994745 2002
36
An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. 24
10052453 1999
37
Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. 61
32471643 2020
38
A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity. 61
31821692 2020
39
Cauterized suture for complete tube occlusion of Ahmed glaucoma valve in hypotony maculopathy. 61
31177825 2020
40
Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature. 61
31846912 2019
41
Maternal-fetal cholesterol transport in the second half of mouse pregnancy does not involve LDL receptor-related protein 2. 61
28024118 2017
42
The genetics of common disorders - congenital diaphragmatic hernia. 61
24793812 2014
43
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. 61
22153411 2011
44
Cochlear implantation in Donnai-Barrow syndrome. 61
21756462 2011
45
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
46
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. 61
17436295 2007
47
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. 61
16532464 2006
48
A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus. 61
15365466 2004

Variations for Donnai-Barrow Syndrome

ClinVar genetic disease variations for Donnai-Barrow Syndrome:

6 (show top 50) (show all 415) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP2 NM_004525.3(LRP2):c.2639+1G>ASNV Pathogenic 559644 rs746752313 2:170113633-170113633 2:169257123-169257123
2 LRP2 NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)SNV Pathogenic 625857 rs1358532875 2:170147445-170147445 2:169290935-169290935
3 LRP2 NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter)SNV Pathogenic 625858 rs1559043276 2:170115574-170115574 2:169259064-169259064
4 LRP2 NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs)deletion Pathogenic 9451 rs80338751 2:170042373-170042374 2:169185863-169185864
5 LRP2 NM_004525.3(LRP2):c.2640-1G>ASNV Pathogenic 9452 rs587776717 2:170112747-170112747 2:169256237-169256237
6 LRP2 NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs)deletion Pathogenic 9453 rs80338749 2:170055352-170055355 2:169198842-169198845
7 LRP2 NM_004525.3(LRP2):c.8452+1G>ASNV Pathogenic 9454 rs80338748 2:170058137-170058137 2:169201627-169201627
8 LRP2 NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter)SNV Pathogenic 9455 rs80338752 2:170034511-170034511 2:169178001-169178001
9 LRP2 NM_004525.3(LRP2):c.1341+2T>GSNV Pathogenic 9456 rs80338745 2:170136858-170136858 2:169280348-169280348
10 LRP2 NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)SNV Pathogenic 9457 rs80338744 2:170139461-170139461 2:169282951-169282951
11 LRP2 NM_004525.3(LRP2):c.11469_11472del (p.Cys3823fs)deletion Pathogenic 21418 rs80338753 2:170026237-170026240 2:169169727-169169730
12 LRP2 NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)duplication Pathogenic 21419 rs80338754 2:169997024-169997025 2:169140514-169140515
13 LRP2 NM_004525.3(LRP2):c.770-2A>GSNV Pathogenic 21420 rs80338743 2:170147509-170147509 2:169290999-169290999
14 LRP2 NM_004525.3(LRP2):c.9358_9359del (p.Ser3120fs)deletion Pathogenic 21421 rs80338750 2:170042499-170042500 2:169185989-169185990
15 LRP2 NM_004525.3(LRP2):c.12437del (p.Gly4146fs)deletion Pathogenic 39973 rs786205122 2:170009333-170009333 2:169152823-169152823
16 LRP2 NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)SNV Likely pathogenic 9450 rs80338747 2:170062140-170062140 2:169205630-169205630
17 LRP2 NM_004525.3(LRP2):c.13139del (p.Pro4380fs)deletion Likely pathogenic 211391 rs80338754 2:169997025-169997025 2:169140515-169140515
18 LRP2 NM_004525.3(LRP2):c.188-2A>GSNV Likely pathogenic 225405 rs760114690 2:170175396-170175396 2:169318886-169318886
19 LMBRD1 NM_018368.4(LMBRD1):c.981-10dupduplication Conflicting interpretations of pathogenicity 225404 rs202207965 6:70411439-70411440 6:69701547-69701548
20 LRP2 NM_004525.3(LRP2):c.923-6G>ASNV Conflicting interpretations of pathogenicity 129545 rs144147038 2:170145661-170145661 2:169289151-169289151
21 LRP2 NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)SNV Conflicting interpretations of pathogenicity 211393 rs142245618 2:169989127-169989127 2:169132617-169132617
22 LRP2 NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)SNV Conflicting interpretations of pathogenicity 211392 rs188918037 2:169993912-169993912 2:169137402-169137402
23 LRP2 NM_004525.3(LRP2):c.987G>A (p.Ala329=)SNV Conflicting interpretations of pathogenicity 211404 rs141751667 2:170145591-170145591 2:169289081-169289081
24 LRP2 NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)SNV Conflicting interpretations of pathogenicity 332091 rs150464677 2:170026231-170026231 2:169169721-169169721
25 LRP2 NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)SNV Conflicting interpretations of pathogenicity 211390 rs35942532 2:170003335-170003335 2:169146825-169146825
26 LRP2 NM_004525.3(LRP2):c.12296-4G>ASNV Conflicting interpretations of pathogenicity 211389 rs375166826 2:170009478-170009478 2:169152968-169152968
27 LRP2 NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)SNV Conflicting interpretations of pathogenicity 211403 rs149148763 2:170048482-170048482 2:169191972-169191972
28 LRP2 NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)SNV Conflicting interpretations of pathogenicity 211399 rs149469954 2:170088242-170088242 2:169231732-169231732
29 LRP2 NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)SNV Conflicting interpretations of pathogenicity 211398 rs146289506 2:170094756-170094756 2:169238246-169238246
30 LRP2 NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys)SNV Conflicting interpretations of pathogenicity 211395 rs147058423 2:170103295-170103295 2:169246785-169246785
31 LRP2 NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)SNV Conflicting interpretations of pathogenicity 129512 rs150752263 2:170113670-170113670 2:169257160-169257160
32 LRP2 NM_004525.3(LRP2):c.428-8deldeletion Conflicting interpretations of pathogenicity 332203 rs370823033 2:170151228-170151228 2:169294718-169294718
33 LRP2 NM_004525.3(LRP2):c.3551-9C>ASNV Conflicting interpretations of pathogenicity 332179 rs373882047 2:170099591-170099591 2:169243081-169243081
34 LRP2 NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)SNV Conflicting interpretations of pathogenicity 332112 rs146783211 2:170042495-170042495 2:169185985-169185985
35 LRP2 NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)SNV Conflicting interpretations of pathogenicity 332129 rs148473513 2:170059363-170059363 2:169202853-169202853
36 LRP2 NM_004525.3(LRP2):c.1731G>A (p.Arg577=)SNV Conflicting interpretations of pathogenicity 737826 2:170134296-170134296 2:169277786-169277786
37 LRP2 NM_004525.3(LRP2):c.8073C>T (p.His2691=)SNV Conflicting interpretations of pathogenicity 760158 2:170059402-170059402 2:169202892-169202892
38 LRP2 NM_004525.3(LRP2):c.1425C>T (p.Asp475=)SNV Conflicting interpretations of pathogenicity 763471 2:170136022-170136022 2:169279512-169279512
39 LRP2 NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)SNV Conflicting interpretations of pathogenicity 796298 2:170025116-170025116 2:169168606-169168606
40 LRP2 NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)SNV Conflicting interpretations of pathogenicity 129498 rs199874294 2:170012810-170012810 2:169156300-169156300
41 LRP2 NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)SNV Conflicting interpretations of pathogenicity 74222 rs142549310 2:170030506-170030506 2:169173996-169173996
42 LRP2 NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)SNV Conflicting interpretations of pathogenicity 516156 rs140272085 2:170037962-170037962 2:169181452-169181452
43 LRP2 NM_004525.3(LRP2):c.4831C>T (p.Leu1611=)SNV Conflicting interpretations of pathogenicity 790340 2:170092439-170092439 2:169235929-169235929
44 LRP2 NM_004525.3(LRP2):c.4803C>T (p.Cys1601=)SNV Conflicting interpretations of pathogenicity 715998 2:170092467-170092467 2:169235957-169235957
45 LRP2 NM_004525.3(LRP2):c.3100A>G (p.Lys1034Glu)SNV Conflicting interpretations of pathogenicity 708385 2:170103305-170103305 2:169246795-169246795
46 LRP2 NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)SNV Conflicting interpretations of pathogenicity 710727 2:170063380-170063380 2:169206870-169206870
47 LRP2 NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)SNV Conflicting interpretations of pathogenicity 710928 2:170063677-170063677 2:169207167-169207167
48 LRP2 NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)SNV Conflicting interpretations of pathogenicity 546128 rs140918583 2:170063372-170063372 2:169206862-169206862
49 LRP2 NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn)SNV Conflicting interpretations of pathogenicity 732103 2:170044497-170044497 2:169187987-169187987
50 LRP2 NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)SNV Conflicting interpretations of pathogenicity 726240 2:170044742-170044742 2:169188232-169188232

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

73
# Symbol AA change Variation ID SNP ID
1 LRP2 p.Tyr2522His VAR_037013 rs80338747

Copy number variations for Donnai-Barrow Syndrome from CNVD:

7
# CNVD ID Chromosome 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 LRP8 LRP2 LMBRD1 GC CUBN AMN
2
Show member pathways
11.68 STRA6 LRP8 LRP2 GC CUBN
3 10.92 VLDLR LRP8
4
Show member pathways
10.88 SHH LRP2
5 10.83 VLDLR LRP8
6 10.7 LMBRD1 CUBN
7 10.65 LMBRD1 CUBN AMN
8
Show member pathways
10.1 CUBN AMN

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 plasma membrane GO:0005886 10.15 VLDLR STRA6 SHH OR4D1 OCRL LRP8
2 endosome GO:0005768 9.8 OCRL LRP2 CUBN CLCN5 AMN
3 lysosome GO:0005764 9.73 OCRL LRP2 LMBRD1 CUBN
4 lysosomal membrane GO:0005765 9.55 VLDLR LRP2 LMBRD1 CUBN CLCN5
5 endocytic vesicle GO:0030139 9.5 LRP2 CUBN AMN
6 brush border membrane GO:0031526 9.43 LRP2 CUBN AMN
7 apical part of cell GO:0045177 9.26 LRP2 CUBN CLCN5 AMN
8 clathrin-coated pit GO:0005905 9.02 VLDLR OCRL LRP2 CUBN AMN

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 VLDLR OCRL LRP8 LRP2 CUBN
2 heart development GO:0007507 9.76 ZFPM2 STRA6 SHH LRP2
3 lung development GO:0030324 9.67 ZFPM2 STRA6 SHH
4 endocytosis GO:0006897 9.65 VLDLR SHH LRP8 LRP2 CUBN
5 receptor-mediated endocytosis GO:0006898 9.62 VLDLR LRP2 CUBN AMN
6 retinoid metabolic process GO:0001523 9.61 STRA6 LRP8 LRP2
7 developmental growth GO:0048589 9.57 STRA6 SHH
8 outflow tract septum morphogenesis GO:0003148 9.56 ZFPM2 LRP2
9 positive regulation of dendrite development GO:1900006 9.55 VLDLR LRP8
10 digestive tract morphogenesis GO:0048546 9.54 STRA6 SHH
11 smooth muscle tissue development GO:0048745 9.51 STRA6 SHH
12 high-density lipoprotein particle clearance GO:0034384 9.48 CUBN AMN
13 reelin-mediated signaling pathway GO:0038026 9.4 VLDLR LRP8
14 pulmonary artery morphogenesis GO:0061156 9.37 STRA6 LRP2
15 cobalamin metabolic process GO:0009235 9.33 LMBRD1 CUBN AMN
16 vitamin D metabolic process GO:0042359 9.13 LRP2 GC CUBN
17 cobalamin transport GO:0015889 8.8 LMBRD1 CUBN AMN

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.8 VLDLR SHH LRP8 LRP2 CUBN
2 apolipoprotein binding GO:0034185 9.37 VLDLR LRP8
3 low-density lipoprotein particle receptor activity GO:0005041 9.32 VLDLR LRP8
4 cobalamin binding GO:0031419 9.26 LMBRD1 CUBN
5 very-low-density lipoprotein particle receptor activity GO:0030229 9.16 VLDLR LRP8
6 reelin receptor activity GO:0038025 8.96 VLDLR LRP8
7 cargo receptor activity GO:0038024 8.8 VLDLR LRP8 CUBN

Sources for Donnai-Barrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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