MCID: CRN015
MIFTS: 64

Cornelia De Lange Syndrome

Categories: Rare diseases, Genetic 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 23 50 24 25 56 52 14
De Lange Syndrome 12 23 50 24 25 29 42
Brachmann-De Lange Syndrome 23 24 25 56
Cdls 23 50 24 25
Bdls 23 24 25
Typus Degenerativus Amstelodamensis 50 25
Brachmann De Lange Syndrome 12 50

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 2 and cornelia de lange syndrome 1, and has symptoms including short stature, failure to thrive and long eyelashes. An important gene associated with Cornelia De Lange Syndrome is SMC3 (Structural Maintenance Of Chromosomes 3), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prometaphase. 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 growth/size/body region

Genetics Home Reference : 25 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 4
Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 Hdac8-Related Cornelia De Lange Syndrome
Nipbl-Related Cornelia De Lange Syndrome Rad21-Related Cornelia De Lange Syndrome
Smc1a-Related Cornelia De Lange Syndrome Smc3-Related Cornelia De Lange Syndrome

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 2 12.7
2 cornelia de lange syndrome 1 12.6
3 cornelia de lange syndrome 4 12.6
4 cornelia de lange syndrome 3 12.6
5 cornelia de lange syndrome 5 12.6
6 nipbl-related cornelia de lange syndrome 12.2
7 rad21-related cornelia de lange syndrome 12.2
8 smc1a-related cornelia de lange syndrome 12.2
9 smc3-related cornelia de lange syndrome 12.2
10 hdac8-related cornelia de lange syndrome 12.1
11 ritscher-schinzel syndrome 1 11.2
12 alazami-yuan syndrome 11.2
13 sc phocomelia syndrome 10.2 ESCO2 RAD21 SMC3
14 coats disease 10.2
15 autism spectrum disorder 10.2
16 spastic paraplegia 37, autosomal dominant 10.1 ESCO2 NIPBL SMC1A SMC3
17 cardiomyopathy 10.1
18 intellectual disability 10.1
19 gastroesophageal reflux 10.1
20 heart disease 10.1
21 epilepsy 10.1
22 cervicitis 10.1
23 sacrococcygeal teratoma 10.1
24 teratoma 10.1
25 thrombocytopenia 10.1
26 congenital diaphragmatic hernia 10.1
27 ring chromosome 3 10.1
28 adenine phosphoribosyltransferase deficiency 10.1 HDAC8 NIPBL RAD21 SMC1A SMC3
29 aniridia 10.0
30 silver-russell syndrome 10.0
31 omphalocele 9.9
32 dystonia 9.9
33 imperforate anus 9.9
34 kidney disease 9.9
35 otitis media 9.9
36 meningocele 9.9
37 thyroiditis 9.9
38 respiratory failure 9.9
39 intestinal obstruction 9.9
40 microtia 9.9
41 intestinal volvulus 9.9
42 down syndrome 9.9
43 choroiditis 9.9
44 influenza 9.9
45 malignant hyperthermia 9.9
46 duodenitis 9.9
47 papilloma 9.9
48 rosacea 9.9
49 encephalopathy 9.9
50 cerebellar hypoplasia 9.9

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:

56 32 (show top 50) (show all 101)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
3 long eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000527
4 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
7 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
8 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 hypertonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001276
11 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
12 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
13 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
14 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
15 peripheral neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009830
16 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
17 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
18 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
19 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
20 premature birth 56 32 frequent (33%) Frequent (79-30%) HP:0001622
21 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
22 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
23 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
24 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
25 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
26 microcornea 56 32 frequent (33%) Frequent (79-30%) HP:0000482
27 gastroesophageal reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0002020
28 hypoplastic labia majora 56 32 frequent (33%) Frequent (79-30%) HP:0000059
29 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
30 elbow dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0003042
31 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
32 low anterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0000294
33 cutis marmorata 56 32 frequent (33%) Frequent (79-30%) HP:0000965
34 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
35 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
36 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
37 thin vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0000233
38 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
39 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
40 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
41 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
42 vesicoureteral reflux 56 32 frequent (33%) Frequent (79-30%) HP:0000076
43 synophrys 56 32 hallmark (90%) Very frequent (99-80%) HP:0000664
44 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
45 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
46 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
47 radioulnar synostosis 56 32 frequent (33%) Frequent (79-30%) HP:0002974
48 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
49 low posterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0002162
50 intestinal malrotation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002566

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 CHRD CLCN2 ESCO2 HDAC8 KMT2A MAU2
2 growth/size/body region MP:0005378 10.18 CHRD ESCO2 GSC HDAC8 KMT2A MAU2
3 behavior/neurological MP:0005386 10.16 CHRD CLCN2 GSC KMT2A MRE11 MYC
4 craniofacial MP:0005382 10.16 CHRD GSC HDAC8 KMT2A MAU2 MYC
5 cardiovascular system MP:0005385 10.15 GSC HDAC8 KMT2A MRE11 MYC NIPBL
6 embryo MP:0005380 10.13 CHRD ESCO2 GSC HDAC8 KMT2A MAU2
7 mortality/aging MP:0010768 10.06 HDAC8 KMT2A MAU2 MRE11 MYC NIPBL
8 hematopoietic system MP:0005397 10.02 CHRD CLCN2 KMT2A MAU2 MRE11 MYC
9 immune system MP:0005387 10 MYC NIPBL RAD21 SMC1A SMC3 THPO
10 hearing/vestibular/ear MP:0005377 9.85 CHRD GSC KMT2A MAU2 MYC NIPBL
11 nervous system MP:0003631 9.65 CHRD CLCN2 ESCO2 GSC HDAC8 KMT2A
12 skeleton MP:0005390 9.32 CHRD GSC HDAC8 KMT2A MAU2 MYC

Drugs & Therapeutics for Cornelia De Lange Syndrome

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

(show all 17)
id 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 Cola Nutraceutical Phase 3
10
Ciprofloxacin Approved, Investigational 85721-33-1 2764
11 Anti-Bacterial Agents
12 Anti-Infective Agents
13 Cystatins
14 Cytochrome P-450 CYP1A2 Inhibitors
15 Cytochrome P-450 Enzyme Inhibitors
16 Topoisomerase Inhibitors
17 leucine Nutraceutical

Interventional clinical trials:

(show all 11)

id 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 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Enrolling by invitation NCT01538550 Phase 3
4 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
5 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
6 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
7 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
10 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920
11 PRESSUREwire Study Recruiting NCT02935088

Search NIH Clinical Center for Cornelia De Lange Syndrome

Cochrane evidence based reviews: de lange syndrome

Genetic Tests for Cornelia De Lange Syndrome

Genetic tests related to Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 De Lange Syndrome 29
2 Cornelia De Lange Syndrome 24 SMC3

Anatomical Context for Cornelia De Lange Syndrome

MalaCards organs/tissues related to Cornelia De Lange Syndrome:

39
Bone, Heart, Kidney, Uterus, Eye, Cerebellum, Brain

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 372)
id Title Authors Year
1
An experimental study of executive function and social impairment in Cornelia de Lange syndrome. ( 28889797 )
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
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. ( 28855971 )
2017
5
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
6
Cornelia de Lange syndrome: Congenital heart disease in 149 patients. ( 28629661 )
2017
7
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. ( 28120103 )
2017
8
Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? ( 28544538 )
2017
9
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts. ( 28752682 )
2017
10
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. ( 28425213 )
2017
11
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome. ( 28679547 )
2017
12
Cornelia de lange syndrome with thyroid agenesis of an indonesian patient. ( 28886330 )
2017
13
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. ( 28190301 )
2017
14
Cornelia de Lange syndrome: What every otolaryngologist should know. ( 28846791 )
2017
15
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. ( 28588001 )
2017
16
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. ( 28125439 )
2017
17
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3. ( 28781842 )
2017
18
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
19
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
20
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. ( 28826797 )
2017
21
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28806899 )
2017
22
Characterization of limb differences in children with Cornelia de Lange Syndrome. ( 27120260 )
2016
23
Cornelia de Lange Syndrome. ( 27307124 )
2016
24
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. ( 26663098 )
2016
25
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. ( 27088280 )
2016
26
Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome. ( 27120109 )
2016
27
Special cases in Cornelia de Lange syndrome: The Spanish experience. ( 27164022 )
2016
28
A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study. ( 27042551 )
2016
29
Improvement in hearing loss over time in Cornelia de Lange syndrome. ( 27368472 )
2016
30
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. ( 27164219 )
2016
31
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. ( 27576763 )
2016
32
Sleep disorders in Cornelia de Lange syndrome. ( 27133889 )
2016
33
Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with Cornelia de Lange syndrome. ( 27178514 )
2016
34
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome. ( 27163126 )
2016
35
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. ( 27145433 )
2016
36
Behaviour in Cornelia de Lange syndrome: a systematic review. ( 27988966 )
2016
37
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. ( 27097273 )
2016
38
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. ( 27291393 )
2016
39
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. ( 27148700 )
2016
40
Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. ( 27120001 )
2016
41
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. ( 27882533 )
2016
42
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. ( 26701315 )
2016
43
Cornelia de Lange syndrome. ( 27712336 )
2016
44
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. ( 27145336 )
2016
45
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. ( 26925417 )
2016
46
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. ( 27164360 )
2016
47
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26269715 )
2015
48
i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome. ( 25809435 )
2015
49
Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma. ( 26276849 )
2015
50
A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature. ( 26486036 )
2015

Variations for Cornelia De Lange Syndrome

Copy number variations for Cornelia De Lange Syndrome from CNVD:

7 (show all 12)
id 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

GO Terms for Cornelia De Lange Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.93 ESCO2 HDAC8 KMT2A MAU2 MRE11 MYC
2 chromosome GO:0005694 9.73 ESCO2 MRE11 RAD21 SMC1A SMC3 TNKS
3 chromosome, centromeric region GO:0000775 9.71 RAD21 SMC1A SMC3 TNKS
4 meiotic cohesin complex GO:0030893 9.46 SMC1A SMC3
5 SMC loading complex GO:0032116 9.37 MAU2 NIPBL
6 chromatin GO:0000785 9.35 ESCO2 MAU2 NIPBL RAD21 SMC3
7 nuclear matrix GO:0016363 9.18 SMC3
8 mitotic spindle pole GO:0097431 9.02 TNKS
9 cohesin complex GO:0008278 8.8 RAD21 SMC1A SMC3
10 nucleus GO:0005634 10.28 ESCO2 GSC HDAC8 KMT2A MAU2 MRE11

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.88 MAU2 RAD21 SMC1A SMC3 TNKS
2 cell cycle GO:0007049 9.87 ESCO2 MAU2 NIPBL RAD21 SMC1A SMC3
3 cellular response to DNA damage stimulus GO:0006974 9.85 MRE11 MYC NIPBL RAD21 SMC1A SMC3
4 meiotic cell cycle GO:0051321 9.73 MRE11 SMC1A SMC3
5 chromosome segregation GO:0007059 9.71 ESCO2 MAU2 RAD21
6 double-strand break repair GO:0006302 9.67 ESCO2 MRE11 RAD21
7 sister chromatid cohesion GO:0007062 9.65 HDAC8 MRE11 RAD21 SMC1A SMC3
8 stem cell population maintenance GO:0019827 9.63 NIPBL SMC1A SMC3
9 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CHRD MYC SHOX2
10 embryonic digestive tract morphogenesis GO:0048557 9.57 NIPBL SHOX2
11 regulation of DNA replication GO:0006275 9.55 ESCO2 SMC3
12 regulation of telomere maintenance GO:0032204 9.52 HDAC8 MYC
13 protein localization to chromatin GO:0071168 9.51 ESCO2 RAD21
14 maintenance of mitotic sister chromatid cohesion GO:0034088 9.43 MAU2 NIPBL
15 negative regulation of DNA endoreduplication GO:0032876 9.33 MRE11 SMC1A SMC3
16 chromosome organization GO:0051276 9.26 MRE11 MYC SMC1A SMC3
17 mitotic sister chromatid cohesion GO:0007064 8.92 MAU2 NIPBL SMC1A SMC3
18 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.05 KMT2A MYC NIPBL RAD21 SHOX2 TNKS

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.35 KMT2A NIPBL RAD21 SMC1A SMC3
2 protein complex binding GO:0032403 9.16 MYC RAD21
3 mediator complex binding GO:0036033 8.8 NIPBL SMC1A SMC3

Sources for Cornelia De Lange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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