DBS
MCID: DNN002
MIFTS: 57

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 57 12 24 53 25 59 74 37 13 44 15 72
Faciooculoacousticorenal Syndrome 57 12 24 53 25 74
Dbs/foar Syndrome 57 12 24 53 25 59
Foar Syndrome 12 24 25 59 74
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome 12 25 59
Facio-Oculo-Acoustico-Renal Syndrome 12 59 74
Donnai Barrow Syndrome 75 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 74
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:



External Ids:

Disease Ontology 12 DOID:0090144
OMIM 57 222448
KEGG 37 H00886
MeSH 44 C536390
MESH via Orphanet 45 C536390
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1857277
Orphanet 59 ORPHA2143
MedGen 42 C1857277
UMLS 72 C1857277

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 dent disease 1 and diaphragmatic hernia, congenital, 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 brain, heart and eye, and related phenotypes are hypertelorism and intellectual disability

Disease Ontology : 12 An autosomal recessive disease 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 : 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.

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)

KEGG : 37
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 : 74 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 : 75 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 381)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 30.9 LRP2 CUBN
2 diaphragmatic hernia, congenital 30.3 ZFPM2 NR2F2 GATA4
3 strabismus 30.3 COL9A1 COL2A1 COL11A1
4 retinal detachment 30.1 COL2A1 COL18A1 COL11A1
5 myopia 30.1 COL2A1 COL18A1 COL11A1
6 diaphragmatic hernia exomphalos corpus callosum agenesis 12.0
7 deep brain stimulation for movement disorders 11.8
8 parkinson disease, late-onset 11.8
9 dystonia 12 11.5
10 dystonia 11, myoclonic 11.2
11 gnao1 encephalopathy 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 hypertelorism 10.7
20 fatty liver disease, nonalcoholic 1 10.7
21 lipid metabolism disorder 10.7
22 fatty liver disease 10.7
23 tremor 10.7
24 dystonia 10.6
25 autosomal recessive disease 10.6
26 sensorineural hearing loss 10.6
27 non-alcoholic fatty liver disease 10.6
28 glucose intolerance 10.5
29 renal fibrosis 10.5
30 microvascular complications of diabetes 5 10.5
31 movement disease 10.5
32 branchiootic syndrome 1 10.5
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
34 omphalocele 10.5
35 alport syndrome 1, x-linked 10.5
36 essential tremor 10.5
37 diabetes mellitus, noninsulin-dependent 10.5
38 congenital intrinsic factor deficiency 10.5 CUBN AMN
39 intestinal volvulus 10.5
40 end stage renal failure 10.4
41 diabetic neuropathy 10.4
42 autosomal recessive stickler syndrome 10.4 COL9A1 COL11A1
43 megaloblastic anemia 1 10.4 CUBN AMN
44 fanconi-like syndrome 10.4 LRP2 CUBN
45 atrial standstill 1 10.4
46 hypertriglyceridemia, familial 10.4
47 neuropathy 10.4
48 obsessive-compulsive disorder 10.3
49 coloboma of macula 10.3
50 optic nerve hypoplasia, bilateral 10.3

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:

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

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

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 AMN COL18A1 COL2A1 CUBN GATA4 GSK3B
2 cellular MP:0005384 10.19 AMN BEST1 COL18A1 COL2A1 COL9A1 GATA4
3 homeostasis/metabolism MP:0005376 10.06 COL18A1 COL2A1 COL9A1 CUBN GATA4 GSK3B
4 mortality/aging MP:0010768 10.02 AMN COL11A1 COL2A1 CUBN GATA4 GSK3B
5 digestive/alimentary MP:0005381 9.93 COL11A1 COL2A1 GATA4 GSK3B LRP2 NR2F2
6 embryo MP:0005380 9.91 AMN COL2A1 CUBN GATA4 LRP2 NR2F2
7 craniofacial MP:0005382 9.88 COL11A1 COL18A1 COL2A1 GSK3B LRP2
8 nervous system MP:0003631 9.86 AMN COL11A1 COL18A1 COL2A1 GATA4 GSK3B
9 limbs/digits/tail MP:0005371 9.77 COL11A1 COL2A1 COL9A1 GATA4 LRP2
10 skeleton MP:0005390 9.56 AMN COL11A1 COL18A1 COL2A1 COL9A1 GATA4
11 pigmentation MP:0001186 9.46 BEST1 COL18A1 LRP2 NR2F2
12 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 29 LRP2

Anatomical Context for Donnai-Barrow Syndrome

MalaCards organs/tissues related to Donnai-Barrow Syndrome:

41
Brain, Heart, Eye, Retina, Lung, Uterus, Skin

Publications for Donnai-Barrow Syndrome

Articles related to Donnai-Barrow Syndrome:

(show all 45)
# Title Authors PMID Year
1
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 38 4 8 71
17632512 2007
2
Donnai-Barrow syndrome: four additional patients. 38 4 8 71
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. 4 8 71
9475100 1998
4
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? 4 8 71
8266995 1993
5
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 38 4 8
18553518 2008
6
Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review. 4 8
9066882 1997
7
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. 4 8
9021018 1997
8
Syndrome of ocular and facial anomalies, telecanthus, and deafness. 4 8
4626128 1972
9
Donnai-Barrow Syndrome 38 71
20301732 2008
10
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome. 38 4
29532936 2018
11
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. 38 4
29388841 2018
12
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. 38 4
25682901 2015
13
Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice. 38 4
24980834 2014
14
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. 38 4
23992033 2014
15
Diagnostic exome sequencing in persons with severe intellectual disability. 71
23033978 2012
16
Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome. 38 4
25632217 2012
17
Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. 38 4
19952924 2010
18
Ocular manifestations of Donnai-Barrow syndrome. 38 4
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. 8
10794262 2000
20
CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY. 8
14042467 1963
21
Reevaluating the role of megalin in renal vitamin D homeostasis using a human cell-derived microphysiological system 4
29999169 2018
22
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. 4
28497274 2017
23
LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease. 4
26872844 2016
24
Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development. 4
26822476 2016
25
LRP2 Acts as SHH Clearance Receptor to Protect the Retinal Margin from Mitogenic Stimuli. 4
26439398 2015
26
In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. 4
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. 4
25741868 2015
28
Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia. 4
26107939 2015
29
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. 4
23048173 2013
30
Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. 4
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. 4
19577669 2009
32
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. 4
19089858 2009
33
The role of megalin (LRP-2/Gp330) during development. 4
16828734 2006
34
Elucidation of megalin/LRP2-dependent endocytic transport processes in the larval zebrafish pronephros. 4
16638803 2006
35
Megalin and cubilin: multifunctional endocytic receptors. 4
11994745 2002
36
An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. 4
10052453 1999
37
Cauterized suture for complete tube occlusion of Ahmed glaucoma valve in hypotony maculopathy. 38
31177825 2019
38
Maternal-fetal cholesterol transport in the second half of mouse pregnancy does not involve LDL receptor-related protein 2. 38
28024118 2017
39
The genetics of common disorders - congenital diaphragmatic hernia. 38
24793812 2014
40
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. 38
22153411 2011
41
Cochlear implantation in Donnai-Barrow syndrome. 38
21756462 2011
42
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 38
17638618 2007
43
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. 38
17436295 2007
44
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. 38
16532464 2006
45
A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus. 38
15365466 2004

Variations for Donnai-Barrow Syndrome

ClinVar genetic disease variations for Donnai-Barrow Syndrome:

6 (show top 50) (show all 257)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LRP2 NM_004525.3(LRP2): c.9484_9485del (p.Val3162fs) deletion Pathogenic rs80338751 2:170042373-170042374 2:169185863-169185864
2 LRP2 NM_004525.3(LRP2): c.2640-1G> A single nucleotide variant Pathogenic rs587776717 2:170112747-170112747 2:169256237-169256237
3 LRP2 NM_004525.3(LRP2): c.8519_8522del (p.Tyr2840fs) deletion Pathogenic rs80338749 2:170055355-170055358 2:169198845-169198848
4 LRP2 NM_004525.3(LRP2): c.8452+1G> A single nucleotide variant Pathogenic rs80338748 2:170058137-170058137 2:169201627-169201627
5 LRP2 NM_004525.3(LRP2): c.10195C> T (p.Arg3399Ter) single nucleotide variant Pathogenic rs80338752 2:170034511-170034511 2:169178001-169178001
6 LRP2 NM_004525.3(LRP2): c.1341+2T> G single nucleotide variant Pathogenic rs80338745 2:170136858-170136858 2:169280348-169280348
7 LRP2 NM_004525.3(LRP2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs80338744 2:170139461-170139461 2:169282951-169282951
8 LRP2 NM_004525.3(LRP2): c.11469_11472del (p.Cys3823fs) deletion Pathogenic rs80338753 2:170026237-170026240 2:169169727-169169730
9 LRP2 NM_004525.3(LRP2): c.13139dup (p.Cys4381fs) duplication Pathogenic rs80338754 2:169997025-169997025 2:169140515-169140515
10 LRP2 NM_004525.3(LRP2): c.770-2A> G single nucleotide variant Pathogenic rs80338743 2:170147509-170147509 2:169290999-169290999
11 LRP2 NM_004525.3(LRP2): c.9358_9359del (p.Ser3120fs) deletion Pathogenic rs80338750 2:170042499-170042500 2:169185989-169185990
12 LRP2 NM_004525.3(LRP2): c.12437del (p.Gly4146fs) deletion Pathogenic rs786205122 2:170009333-170009333 2:169152823-169152823
13 LRP2 NM_004525.3(LRP2): c.6160G> A (p.Asp2054Asn) single nucleotide variant Pathogenic rs138269726 2:170068598-170068598 2:169212088-169212088
14 LRP2 NM_004525.3(LRP2): c.2639+1G> A single nucleotide variant Pathogenic rs746752313 2:170113633-170113633 2:169257123-169257123
15 LRP2 NM_004525.3(LRP2): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic 2:170147445-170147445 2:169290935-169290935
16 LRP2 NM_004525.3(LRP2): c.2474T> G (p.Leu825Ter) single nucleotide variant Pathogenic 2:170115574-170115574 2:169259064-169259064
17 LRP2 NM_004525.3(LRP2): c.7564T> C (p.Tyr2522His) single nucleotide variant Likely pathogenic rs80338747 2:170062140-170062140 2:169205630-169205630
18 LRP2 NM_004525.3(LRP2): c.13139del (p.Pro4380fs) deletion Likely pathogenic rs80338754 2:169997025-169997025 2:169140515-169140515
19 LRP2 NM_004525.3(LRP2): c.188-2A> G single nucleotide variant Likely pathogenic rs760114690 2:170175396-170175396 2:169318886-169318886
20 LMBRD1 NM_018368.4(LMBRD1): c.981-3dup duplication Conflicting interpretations of pathogenicity rs202207965 6:70411440-70411440 6:69701548-69701548
21 LRP2 NM_004525.3(LRP2): c.5085G> A (p.Ser1695=) single nucleotide variant Conflicting interpretations of pathogenicity rs145384264 2:170089934-170089934 2:169233424-169233424
22 LRP2 NM_004525.3(LRP2): c.5293G> A (p.Val1765Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116456291 2:170083033-170083033 2:169226523-169226523
23 LRP2 NM_004525.3(LRP2): c.11092G> A (p.Val3698Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34355135 2:170029657-170029657 2:169173147-169173147
24 LRP2 NM_004525.3(LRP2): c.923-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144147038 2:170145661-170145661 2:169289151-169289151
25 LRP2 NM_004525.3(LRP2): c.13685T> C (p.Val4562Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142245618 2:169989127-169989127 2:169132617-169132617
26 LRP2 NM_004525.3(LRP2): c.13610A> C (p.Gln4537Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs188918037 2:169993912-169993912 2:169137402-169137402
27 LRP2 NM_004525.3(LRP2): c.2511C> T (p.Ala837=) single nucleotide variant Conflicting interpretations of pathogenicity rs375313914 2:170115537-170115537 2:169259027-169259027
28 LRP2 NM_004525.3(LRP2): c.149C> G (p.Thr50Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs114460450 2:170177325-170177325 2:169320815-169320815
29 LRP2 NM_004525.3(LRP2): c.10403C> T (p.Pro3468Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143367996 2:170033089-170033089 2:169176579-169176579
30 LRP2 NM_004525.3(LRP2): c.10233C> T (p.Phe3411=) single nucleotide variant Uncertain significance rs139363553 2:170034473-170034473 2:169177963-169177963
31 LRP2 NM_004525.3(LRP2): c.9442C> A (p.Arg3148=) single nucleotide variant Uncertain significance rs776178253 2:170042416-170042416 2:169185906-169185906
32 LRP2 NM_004525.3(LRP2): c.9157G> A (p.Glu3053Lys) single nucleotide variant Uncertain significance rs886055081 2:170044651-170044651 2:169188141-169188141
33 LRP2 NM_004525.3(LRP2): c.9128G> A (p.Arg3043His) single nucleotide variant Uncertain significance rs143078432 2:170044680-170044680 2:169188170-169188170
34 LRP2 NM_004525.3(LRP2): c.9040C> T (p.Arg3014Trp) single nucleotide variant Uncertain significance rs142093111 2:170044768-170044768 2:169188258-169188258
35 LRP2 NM_004525.3(LRP2): c.8276G> A (p.Arg2759His) single nucleotide variant Uncertain significance rs754025614 2:170058314-170058314 2:169201804-169201804
36 LRP2 NM_004525.3(LRP2): c.8245G> T (p.Ala2749Ser) single nucleotide variant Uncertain significance rs755330496 2:170058345-170058345 2:169201835-169201835
37 LRP2 NM_004525.3(LRP2): c.7007G> A (p.Arg2336Gln) single nucleotide variant Uncertain significance rs147287428 2:170063223-170063223 2:169206713-169206713
38 LRP2 NM_004525.3(LRP2): c.6766G> T (p.Asp2256Tyr) single nucleotide variant Uncertain significance rs143262722 2:170063464-170063464 2:169206954-169206954
39 LRP2 NM_004525.3(LRP2): c.6575C> G (p.Pro2192Arg) single nucleotide variant Uncertain significance rs780008529 2:170063655-170063655 2:169207145-169207145
40 LRP2 NM_004525.3(LRP2): c.6048C> T (p.Ala2016=) single nucleotide variant Uncertain significance rs144449508 2:170068710-170068710 2:169212200-169212200
41 LRP2 NM_004525.3(LRP2): c.5553C> T (p.His1851=) single nucleotide variant Uncertain significance rs369998522 2:170077059-170077059 2:169220549-169220549
42 LRP2 NM_004525.3(LRP2): c.5538+10C> T single nucleotide variant Uncertain significance rs115659204 2:170081810-170081810 2:169225300-169225300
43 LRP2 NM_004525.3(LRP2): c.5115C> T (p.Ala1705=) single nucleotide variant Uncertain significance rs775377117 2:170088336-170088336 2:169231826-169231826
44 LRP2 NM_004525.3(LRP2): c.4855C> A (p.Leu1619Ile) single nucleotide variant Uncertain significance rs766931921 2:170092415-170092415 2:169235905-169235905
45 LRP2 NM_004525.3(LRP2): c.4691+15T> A single nucleotide variant Uncertain significance rs202134501 2:170093598-170093598 2:169237088-169237088
46 LRP2 NM_004525.3(LRP2): c.4691+7del deletion Uncertain significance rs775018424 2:170093606-170093606 2:169237096-169237096
47 LRP2 NM_004525.3(LRP2): c.170C> T (p.Ala57Val) single nucleotide variant Uncertain significance rs115350461 2:170177304-170177304 2:169320794-169320794
48 LRP2 NM_004525.3(LRP2): c.403G> A (p.Asp135Asn) single nucleotide variant Uncertain significance rs142594441 2:170163815-170163815 2:169307305-169307305
49 LRP2 NM_004525.2(LRP2): c.428-10_428-8delTTT deletion Uncertain significance rs370823033 2:170151228-170151230 2:169294718-169294720
50 LRP2 NM_004525.3(LRP2): c.428-6del deletion Uncertain significance rs886055093 2:170151226-170151226 2:169294716-169294716

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

74
# 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 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
12.55 GSK3B COL9A1 COL2A1 COL11A1
2
Show member pathways
12.43 COL9A1 COL2A1 COL18A1 COL11A1
3
Show member pathways
12.28 COL9A1 COL2A1 COL18A1 COL11A1
4
Show member pathways
12.06 LRP2 LMBRD1 CUBN AMN
5
Show member pathways
11.86 COL9A1 COL2A1 COL18A1 COL11A1
6
Show member pathways
11.63 COL9A1 COL2A1 COL18A1
7 10.75 LMBRD1 CUBN
8 10.64 COL9A1 COL2A1 COL18A1 COL11A1
9 10.12 LMBRD1 CUBN AMN
10
Show member pathways
9.8 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 extracellular matrix GO:0031012 9.71 COL9A1 COL2A1 COL18A1 COL11A1
2 endoplasmic reticulum lumen GO:0005788 9.62 COL9A1 COL2A1 COL18A1 COL11A1
3 apical part of cell GO:0045177 9.54 LRP2 CUBN AMN
4 clathrin-coated pit GO:0005905 9.43 LRP2 CUBN AMN
5 endocytic vesicle GO:0030139 9.33 LRP2 CUBN AMN
6 brush border membrane GO:0031526 9.13 LRP2 CUBN AMN
7 collagen trimer GO:0005581 8.92 COL9A1 COL2A1 COL18A1 COL11A1

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 LRP2 CUBN AMN
2 sensory perception of sound GO:0007605 9.63 LRP2 COL2A1 COL11A1
3 extracellular matrix organization GO:0030198 9.56 COL9A1 COL2A1 COL18A1 COL11A1
4 in utero embryonic development GO:0001701 9.55 ZFPM2 NR2F2
5 ventricular septum development GO:0003281 9.54 LRP2 GATA4
6 outflow tract septum morphogenesis GO:0003148 9.52 ZFPM2 LRP2
7 tissue homeostasis GO:0001894 9.49 CUBN COL2A1
8 cartilage condensation GO:0001502 9.48 COL2A1 COL11A1
9 visual perception GO:0007601 9.46 COL2A1 COL18A1 COL11A1 BEST1
10 animal organ morphogenesis GO:0009887 9.43 COL9A1 COL18A1
11 vitamin D metabolic process GO:0042359 9.4 LRP2 CUBN
12 high-density lipoprotein particle clearance GO:0034384 9.37 CUBN AMN
13 proteoglycan metabolic process GO:0006029 9.32 COL2A1 COL11A1
14 lipoprotein transport GO:0042953 9.21 CUBN
15 cobalamin metabolic process GO:0009235 9.13 LMBRD1 CUBN AMN
16 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 metal ion binding GO:0046872 9.91 ZFPM2 NR2F2 LRP2 GATA4 CUBN COL9A1
2 RNA polymerase II transcription factor binding GO:0001085 9.33 ZFPM2 GSK3B GATA4
3 cobalamin binding GO:0031419 9.32 LMBRD1 CUBN
4 extracellular matrix structural constituent GO:0005201 9.26 COL9A1 COL2A1 COL18A1 COL11A1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL9A1 COL2A1 COL18A1 COL11A1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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