MCID: CRN015
MIFTS: 65

Cornelia De Lange Syndrome

Categories: Rare diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Cornelia De Lange Syndrome

MalaCards integrated aliases for Cornelia De Lange Syndrome:

Name: Cornelia De Lange Syndrome 12 72 23 49 24 55 36 51 14
De Lange Syndrome 12 23 49 24 41
Brachmann-De Lange Syndrome 23 24 55
Cdls 23 49 24
Typus Degenerativus Amstelodamensis 49 24
Brachmann De Lange Syndrome 12 49
Bdls 23 24

Characteristics:

Orphanet epidemiological data:

55
cornelia de lange syndrome
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
Penetrance No unaffected individuals with a somatic heterozygous pathogenic variant in nipbl have been reported; thus, penetrance appears to be 100%...

Classifications:



Summaries for Cornelia De Lange Syndrome

NIH Rare Diseases : 49 Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. Last updated: 7/27/2015

MalaCards based summary : Cornelia De Lange Syndrome, also known as de lange syndrome, is related to cornelia de lange syndrome 1 and cornelia de lange syndrome 2, and has symptoms including multicystic kidney dysplasia, hypoplastic labia majora and vesicoureteral reflux. An important gene associated with Cornelia De Lange Syndrome is NIPBL (NIPBL, Cohesin Loading Factor), and among its related pathways/superpathways are Cell cycle and Oocyte meiosis. The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are cellular and craniofacial

Genetics Home Reference : 24 Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.

Disease Ontology : 12 A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

Wikipedia : 72 Cornelia de Lange Syndrome (CdLS) is a very rare genetic disorder present from birth, but not always... more...

GeneReviews: NBK1104

Related Diseases for Cornelia De Lange Syndrome

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 Cornelia De Lange Syndrome 3
Cornelia De Lange Syndrome 4

Diseases related to Cornelia De Lange Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 33.3 CDL1 HDAC8 KMT2A NIPBL RAD21 TAF6
2 cornelia de lange syndrome 2 12.8
3 cornelia de lange syndrome 4 12.8
4 cornelia de lange syndrome 3 12.7
5 cornelia de lange syndrome 5 12.7
6 ritscher-schinzel syndrome 1 11.3
7 alazami-yuan syndrome 11.3
8 autism 10.3
9 aging 10.3
10 trichorhinophalangeal syndrome, type ii 10.2
11 coats disease 10.2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
13 autism spectrum disorder 10.2
14 gastroesophageal reflux 10.2
15 diaphragmatic hernia, congenital 10.2
16 down syndrome 10.2
17 alacrima, achalasia, and mental retardation syndrome 10.2
18 sacrococcygeal teratoma 10.2
19 thrombocytopenia 10.2
20 heart disease 10.2
21 epilepsy 10.2
22 cervicitis 10.2
23 teratoma 10.2
24 ring chromosome 3 10.2
25 sc phocomelia syndrome 10.0 ESCO2 NIPBL SMC1A SMC3
26 kbg syndrome 10.0 HDAC8 NIPBL RAD21 SMC1A SMC3
27 aortic valve disease 1 10.0
28 cleft palate, isolated 10.0
29 hypertelorism 10.0
30 otitis media 10.0
31 pancreas, annular 10.0
32 septooptic dysplasia 10.0
33 anus, imperforate 10.0
34 cerebellar hypoplasia 10.0
35 conotruncal heart malformations 10.0
36 wilms tumor 5 10.0
37 anxiety 10.0
38 chromosome 16p13.3 deletion syndrome, proximal 10.0
39 chromosome 13q14 deletion syndrome 10.0
40 wilms tumor 6 10.0
41 leukemia 10.0
42 megakaryocytic leukemia 10.0
43 ulcerative colitis 10.0
44 fetal alcohol spectrum disorder 10.0
45 colitis 10.0
46 omphalocele 10.0
47 meningocele 10.0
48 respiratory failure 10.0
49 choroiditis 10.0
50 hypertrophic cardiomyopathy 10.0

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome:



Diseases related to Cornelia De Lange Syndrome

Symptoms & Phenotypes for Cornelia De Lange Syndrome

Human phenotypes related to Cornelia De Lange Syndrome:

55 31 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
2 hypoplastic labia majora 55 31 frequent (33%) Frequent (79-30%) HP:0000059
3 vesicoureteral reflux 55 31 frequent (33%) Frequent (79-30%) HP:0000076
4 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
5 abnormality of the uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000130
6 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
7 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
8 thin vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0000233
9 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
10 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
11 low anterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0000294
12 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
13 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
14 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
15 macrotia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000400
16 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
17 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
18 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
19 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
20 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
21 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 blepharitis 55 31 frequent (33%) Frequent (79-30%) HP:0000498
23 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
24 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
25 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
26 thick eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0000574
27 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
28 synophrys 55 31 hallmark (90%) Very frequent (99-80%) HP:0000664
29 phthisis bulbi 55 31 frequent (33%) Frequent (79-30%) HP:0000667
30 delayed eruption of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000684
31 widely spaced teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000687
32 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
33 obsessive-compulsive behavior 55 31 frequent (33%) Frequent (79-30%) HP:0000722
34 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
35 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776
36 primary amenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000786
37 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
38 cutis marmorata 55 31 frequent (33%) Frequent (79-30%) HP:0000965
39 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
40 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
41 hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000047
42 atresia of the external auditory canal 55 31 hallmark (90%) Very frequent (99-80%) HP:0000413
43 microcornea 55 31 frequent (33%) Frequent (79-30%) HP:0000482
44 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
45 long eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000527
46 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
47 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
48 hypertonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001276
49 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
50 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 TNKS SMC1A STAG1 MRE11 ESCO2 NIPBL
2 craniofacial MP:0005382 10.1 SHOX2 SMC3 STAG1 SETD5 NIPBL HDAC8
3 growth/size/body region MP:0005378 10.1 TNKS SETD5 SHOX2 SMC3 STAG1 ESCO2
4 embryo MP:0005380 10.07 TNKS SETD5 ESCO2 NIPBL HDAC8 KMT2A
5 hematopoietic system MP:0005397 10 SETD5 SMC1A SMC3 STAG1 MRE11 RAD21
6 mortality/aging MP:0010768 9.86 SETD5 SHOX2 SMC1A SMC3 STAG1 TAF6
7 immune system MP:0005387 9.85 SETD5 SMC1A SMC3 RAD21 MRE11 NIPBL
8 skeleton MP:0005390 9.28 SETD5 SHOX2 SMC3 STAG1 NIPBL HDAC8

Drugs & Therapeutics for Cornelia De Lange Syndrome

Drugs for Cornelia De Lange Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Agents Phase 2, Phase 3
3 Adrenergic Antagonists Phase 2, Phase 3
4 Adrenergic beta-Antagonists Phase 2, Phase 3
5 Anti-Arrhythmia Agents Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9
Ciprofloxacin Approved, Investigational 85721-33-1 2764
10
Everolimus Approved 159351-69-6 6442177
11
Sirolimus Approved, Investigational 53123-88-9 46835353 6436030 5284616
12
Amiodarone Approved, Investigational 1951-25-3 2157
13
Digoxin Approved 20830-75-5 2724385 30322
14
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
15
Verapamil Approved 52-53-9 2520
16 Anti-Bacterial Agents
17 Anti-Infective Agents
18 Cystatins
19 Cytochrome P-450 CYP1A2 Inhibitors
20 Cytochrome P-450 Enzyme Inhibitors
21 Topoisomerase Inhibitors
22 Adrenergic beta-1 Receptor Antagonists
23 Autonomic Agents
24 calcium channel blockers
25 Calcium, Dietary
26 Cytochrome P-450 CYP2C9 Inhibitors
27 Cytochrome P-450 CYP2D6 Inhibitors
28 Cytochrome P-450 CYP3A Inhibitors
29 Diuretics, Potassium Sparing
30 Peripheral Nervous System Agents
31 Potassium Channel Blockers
32 Protective Agents
33 Sodium Channel Blockers
34 Sympatholytics
35 leucine Nutraceutical
36 Cola Nutraceutical

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
3 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
4 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
5 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
6 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Recruiting NCT01538550
9 Post-Market Clinical-Follow-Up Study of Suprasorb® C Collagen Wound Dressing Recruiting NCT03444597
10 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
11 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920
12 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473
13 PRESSUREwire Study Recruiting NCT02935088
14 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 Pharmacological cardioversion - Flecainide;Metoprolol;Verapamil;Digoxin;Pharmacological cardioversion - Amiodarone

Search NIH Clinical Center for Cornelia De Lange Syndrome

Cochrane evidence based reviews: de lange syndrome

Genetic Tests for Cornelia De Lange Syndrome

Anatomical Context for Cornelia De Lange Syndrome

MalaCards organs/tissues related to Cornelia De Lange Syndrome:

38
Bone, Heart, Kidney, Cerebellum, Uterus, Eye, Brain

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 376)
# Title Authors Year
1
Cornelia de lange syndrome with thyroid agenesis of an indonesian patient. ( 28886330 )
2017
2
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28814979 )
2017
3
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. ( 28102598 )
2017
4
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. ( 28120103 )
2017
5
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. ( 28425213 )
2017
6
An experimental study of executive function and social impairment in Cornelia de Lange syndrome. ( 28889797 )
2017
7
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome. ( 28241484 )
2017
8
Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome. ( 29217785 )
2017
9
Advances in developmental neuropsychiatry: autism spectrum disorder, Cornelia De Lange syndrome, self-injurious behavior, Down syndrome, fetal alcohol spectrum disorder, and borderline intellectual functioning. ( 28067728 )
2017
10
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome. ( 28679547 )
2017
11
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
12
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3. ( 28781842 )
2017
13
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. ( 28588001 )
2017
14
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. ( 28190301 )
2017
15
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. ( 28826797 )
2017
16
Cornelia de Lange syndrome: What every otolaryngologist should know. ( 28846791 )
2017
17
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts. ( 28752682 )
2017
18
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome. ( 29162129 )
2017
19
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. ( 28855971 )
2017
20
Novel mosaic variants in two patients with Cornelia de Lange syndrome. ( 29155047 )
2017
21
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28806899 )
2017
22
Cornelia de Lange syndrome: Congenital heart disease in 149 patients. ( 28629661 )
2017
23
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. ( 28125439 )
2017
24
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. ( 29279609 )
2017
25
Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? ( 28544538 )
2017
26
Improvement in hearing loss over time in Cornelia de Lange syndrome. ( 27368472 )
2016
27
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. ( 26925417 )
2016
28
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. ( 26701315 )
2016
29
Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome. ( 27120109 )
2016
30
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. ( 27576763 )
2016
31
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. ( 27164360 )
2016
32
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. ( 27148700 )
2016
33
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. ( 27145336 )
2016
34
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. ( 27882533 )
2016
35
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. ( 27291393 )
2016
36
Characterization of limb differences in children with Cornelia de Lange Syndrome. ( 27120260 )
2016
37
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. ( 27097273 )
2016
38
A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study. ( 27042551 )
2016
39
Cornelia de Lange Syndrome. ( 27307124 )
2016
40
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. ( 27088280 )
2016
41
Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. ( 27120001 )
2016
42
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome. ( 27163126 )
2016
43
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. ( 27164219 )
2016
44
Cornelia de Lange syndrome. ( 27712336 )
2016
45
Sleep disorders in Cornelia de Lange syndrome. ( 27133889 )
2016
46
Special cases in Cornelia de Lange syndrome: The Spanish experience. ( 27164022 )
2016
47
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. ( 27145433 )
2016
48
Behaviour in Cornelia de Lange syndrome: a systematic review. ( 27988966 )
2016
49
Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with Cornelia de Lange syndrome. ( 27178514 )
2016
50
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. ( 26663098 )
2016

Variations for Cornelia De Lange Syndrome

Copy number variations for Cornelia De Lange Syndrome from CNVD:

7 (show all 12)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 39200 10 111800000 114900000 Copy number SMC3 Cornelia de Lange syndrome
2 199073 5 34400000 38500000 Copy number NIPBL Cornelia de Lange syndrome
3 300140 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements HDAC8 Cornelia de Lange syndrome
4 300141 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements NIPBL Cornelia de Lange syndrome
5 300142 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements RAD21 Cornelia de Lange syndrome
6 300143 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC1A Cornelia de Lange syndrome
7 300144 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC3 Cornelia de Lange syndrome
8 304599 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements HDAC8 Cornelia de Lange syndrome
9 304600 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements NIPBL Cornelia de Lange syndrome
10 304601 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements RAD21 Cornelia de Lange syndrome
11 304602 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC1A Cornelia de Lange syndrome
12 304603 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC3 Cornelia de Lange syndrome

Expression for Cornelia De Lange Syndrome

Search GEO for disease gene expression data for Cornelia De Lange Syndrome.

Pathways for Cornelia De Lange Syndrome

Pathways related to Cornelia De Lange Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110
2 Oocyte meiosis hsa04114

Pathways related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 CDCA5 ESCO2 HDAC8 MAU2 MRE11 NIPBL
2
Show member pathways
12.67 CDCA5 HDAC8 RAD21 SMC1A SMC3 STAG1
3
Show member pathways
12.41 RAD21 SMC1A SMC3 STAG1 STAG2
4 12.32 MRE11 RAD21 SMC1A SMC3 STAG2
5
Show member pathways
12.31 MRE11 RAD21 SMC1A SMC3 STAG1 STAG2
6 12.23 KMT2A RAD21 SMC1A SMC3 STAG2
7
Show member pathways
12.23 CDCA5 HDAC8 RAD21 SMC1A SMC3 STAG1
8 12.16 HDAC8 RAD21 SMC1A SMC3 STAG1 STAG2
9 11.63 RAD21 SMC1A SMC3 STAG1 STAG2
10
Show member pathways
11.61 MRE11 SMC1A SMC3
11
Show member pathways
10.58 MAU2 NIPBL RAD21 SMC1A SMC3 STAG1

GO Terms for Cornelia De Lange Syndrome

Cellular components related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.8 RAD21 SMC1A SMC3 STAG1 STAG2
2 chromosome, centromeric region GO:0000775 9.7 CDCA5 RAD21 SMC1A SMC3 STAG1 STAG2
3 mitotic spindle pole GO:0097431 9.65 SMC1A SMC3 STAG1 STAG2 TNKS
4 chromatin GO:0000785 9.56 CDCA5 ESCO2 MAU2 NIPBL RAD21 SMC3
5 meiotic cohesin complex GO:0030893 9.49 SMC1A SMC3
6 Scc2-Scc4 cohesin loading complex GO:0090694 9.48 MAU2 NIPBL
7 SMC loading complex GO:0032116 9.46 MAU2 NIPBL
8 cohesin complex GO:0008278 9.1 CDCA5 RAD21 SMC1A SMC3 STAG1 STAG2
9 nucleus GO:0005634 10.34 CDCA5 ESCO2 HDAC8 KMT2A MAU2 MRE11
10 nucleoplasm GO:0005654 10.22 CDCA5 ESCO2 HDAC8 KMT2A MAU2 MRE11
11 chromosome GO:0005694 10.02 CDCA5 ESCO2 MRE11 RAD21 SMC1A SMC3

Biological processes related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.96 MRE11 NIPBL RAD21 SMC1A SMC3
2 cell division GO:0051301 9.92 CDCA5 MAU2 RAD21 SMC1A SMC3 STAG1
3 DNA repair GO:0006281 9.89 MRE11 RAD21 SMC1A SMC3
4 cell cycle GO:0007049 9.85 CDCA5 ESCO2 MAU2 NIPBL RAD21 SMC1A
5 meiotic cell cycle GO:0051321 9.8 MRE11 SMC1A SMC3 STAG2
6 chromosome segregation GO:0007059 9.8 ESCO2 MAU2 RAD21 STAG1 STAG2
7 double-strand break repair GO:0006302 9.73 CDCA5 ESCO2 MRE11 RAD21
8 stem cell population maintenance GO:0019827 9.71 NIPBL SMC1A SMC3
9 regulation of mitotic spindle assembly GO:1901673 9.67 SMC1A SMC3 STAG1 STAG2
10 chromosome organization GO:0051276 9.65 MRE11 SMC1A SMC3
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.6 CHRD SHOX2
12 embryonic digestive tract morphogenesis GO:0048557 9.58 NIPBL SHOX2
13 regulation of DNA replication GO:0006275 9.57 ESCO2 SMC3
14 mitotic sister chromatid cohesion GO:0007064 9.56 CDCA5 MAU2 NIPBL SMC1A
15 protein localization to chromatin GO:0071168 9.55 ESCO2 RAD21
16 regulation of cohesin loading GO:0071922 9.52 CDCA5 HDAC8
17 maintenance of mitotic sister chromatid cohesion GO:0034088 9.51 MAU2 NIPBL
18 cohesin loading GO:0071921 9.46 MAU2 NIPBL
19 negative regulation of DNA endoreduplication GO:0032876 9.26 MRE11 SMC1A SMC3 STAG2
20 sister chromatid cohesion GO:0007062 9.23 CDCA5 HDAC8 MRE11 RAD21 SMC1A SMC3
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 KMT2A NIPBL RAD21 SHOX2 STAG1 TNKS

Molecular functions related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.23 CDCA5 HDAC8 KMT2A NIPBL RAD21 SMC1A
2 mediator complex binding GO:0036033 9.13 NIPBL SMC1A SMC3

Sources for Cornelia De Lange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....