MCID: CRN015
MIFTS: 64

Cornelia De Lange Syndrome

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

Aliases & Classifications for Cornelia De Lange Syndrome

MalaCards integrated aliases for Cornelia De Lange Syndrome:

Name: Cornelia De Lange Syndrome 12 76 24 53 25 59 37 55 6 15 40
De Lange Syndrome 12 24 53 25 44
Brachmann-De Lange Syndrome 24 25 59
Cdls 24 53 25
Typus Degenerativus Amstelodamensis 53 25
Brachmann De Lange Syndrome 12 53
Bdls 24 25

Characteristics:

Orphanet epidemiological data:

59
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:

24
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 : 53 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 60% of people affected by CdLS have a disease-causing variation (mutation) in the NIPBL gene, and about 10% 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.

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. 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 multicystic kidney dysplasia and hypoplastic labia majora

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.

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.

Wikipedia : 76 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 80)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 33.6 CDL1 HDAC8 KMT2A NIPBL NIPBL-DT RAD21
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 wilson-turner x-linked mental retardation syndrome 11.3
8 alazami-yuan syndrome 11.3
9 autism 10.3
10 aging 10.3
11 trichorhinophalangeal syndrome, type ii 10.2
12 coats disease 10.2
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
14 autism spectrum disorder 10.2
15 wiedemann-steiner syndrome 10.2 KMT2A SMC1A SMC3
16 kbg syndrome 10.1 HDAC8 NIPBL RAD21 SMC1A SMC3
17 gastroesophageal reflux 10.1
18 diaphragmatic hernia, congenital 10.1
19 down syndrome 10.1
20 alacrima, achalasia, and mental retardation syndrome 10.1
21 sacrococcygeal teratoma 10.1
22 thrombocytopenia 10.1
23 heart disease 10.1
24 epilepsy 10.1
25 cervicitis 10.1
26 teratoma 10.1
27 ring chromosome 3 10.1
28 sc phocomelia syndrome 10.1 ESCO2 NIPBL SMC1A SMC3
29 roberts syndrome 10.0 ESCO2 NIPBL RAD21 SMC3
30 apnea, obstructive sleep 10.0
31 aortic valve disease 1 10.0
32 cleft palate, isolated 10.0
33 hypertelorism 10.0
34 otitis media 10.0
35 pancreas, annular 10.0
36 septooptic dysplasia 10.0
37 anus, imperforate 10.0
38 cerebellar hypoplasia 10.0
39 wilms tumor 5 10.0
40 anxiety 10.0
41 chromosome 16p13.3 deletion syndrome, proximal 10.0
42 chromosome 13q14 deletion syndrome 10.0
43 wilms tumor 6 10.0
44 leukemia 10.0
45 megakaryocytic leukemia 10.0
46 ulcerative colitis 10.0
47 fetal alcohol spectrum disorder 10.0
48 sleep apnea 10.0
49 colitis 10.0
50 omphalocele 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:

59 32 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
2 hypoplastic labia majora 59 32 frequent (33%) Frequent (79-30%) HP:0000059
3 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
4 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
5 abnormality of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000130
6 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
8 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
9 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
10 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
11 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
12 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
13 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
14 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
15 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
16 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
17 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
18 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
19 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
20 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
21 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
22 blepharitis 59 32 frequent (33%) Frequent (79-30%) HP:0000498
23 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
24 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
25 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
26 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
27 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
28 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
29 phthisis bulbi 59 32 frequent (33%) Frequent (79-30%) HP:0000667
30 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
31 widely spaced teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000687
32 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
33 obsessive-compulsive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000722
34 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
35 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
36 primary amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000786
37 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
38 cutis marmorata 59 32 frequent (33%) Frequent (79-30%) HP:0000965
39 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
40 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
41 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
42 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
43 microcornea 59 32 frequent (33%) Frequent (79-30%) HP:0000482
44 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
45 long eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000527
46 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
47 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
48 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
49 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
50 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 9.02 CDCA5 PAPPA RAD21 SMC1A SMC3

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 MAU2 NIPBL SMC1A STAG1 TNKS CHRD
2 craniofacial MP:0005382 10.07 CDCA5 CHRD HDAC8 KMT2A MAU2 NIPBL
3 growth/size/body region MP:0005378 10.07 CDCA5 CHRD ESCO2 HDAC8 KMT2A MAU2
4 embryo MP:0005380 9.97 CDCA5 CHRD ESCO2 HDAC8 KMT2A MAU2
5 hematopoietic system MP:0005397 9.85 CDCA5 CHRD CLCN2 KMT2A MAU2 RAD21
6 mortality/aging MP:0010768 9.83 NIPBL RAD21 SETD5 SHOX2 SMC1A SMC3
7 skeleton MP:0005390 9.32 SETD5 SHOX2 SMC3 STAG1 CHRD HDAC8

Drugs & Therapeutics for Cornelia De Lange Syndrome

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

(show all 38)
# 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,Not Applicable
3 Adrenergic Antagonists Phase 2, Phase 3,Not Applicable
4 Adrenergic beta-Antagonists Phase 2, Phase 3,Not Applicable
5 Anti-Arrhythmia Agents Phase 2, Phase 3,Not Applicable
6 Antihypertensive Agents Phase 2, Phase 3,Not Applicable
7 Neurotransmitter Agents Phase 2, Phase 3,Not Applicable
8 Vasodilator Agents Phase 2, Phase 3,Not Applicable
9
Ciprofloxacin Approved, Investigational 85721-33-1 2764
10
Paclitaxel Approved, Vet_approved Not Applicable 33069-62-4 36314
11
Everolimus Approved Not Applicable 159351-69-6 6442177
12
Sirolimus Approved, Investigational Not Applicable 53123-88-9 5284616 6436030 46835353
13
Amiodarone Approved, Investigational Not Applicable 1951-25-3 2157
14
Digoxin Approved Not Applicable 20830-75-5 30322 2724385
15
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
16
Verapamil Approved Not Applicable 52-53-9 2520
17 Anti-Bacterial Agents
18 Anti-Infective Agents
19 Cystatins
20 Cytochrome P-450 CYP1A2 Inhibitors ,Not Applicable
21 Cytochrome P-450 Enzyme Inhibitors ,Not Applicable
22 Topoisomerase Inhibitors
23 Albumin-Bound Paclitaxel Not Applicable
24 Adrenergic beta-1 Receptor Antagonists Not Applicable
25 Autonomic Agents Not Applicable
26 calcium channel blockers Not Applicable
27 Calcium, Dietary Not Applicable
28 Cytochrome P-450 CYP2C9 Inhibitors Not Applicable
29 Cytochrome P-450 CYP2D6 Inhibitors Not Applicable
30 Cytochrome P-450 CYP3A Inhibitors Not Applicable
31 Diuretics, Potassium Sparing Not Applicable
32 Peripheral Nervous System Agents Not Applicable
33 Potassium Channel Blockers Not Applicable
34 Protective Agents Not Applicable
35 Sodium Channel Blockers Not Applicable
36 Sympatholytics Not Applicable
37 leucine Nutraceutical Not Applicable
38 Cola Nutraceutical Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Unknown status 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 Not Applicable
4 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277 Not Applicable
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 Not Applicable
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 Not Applicable
12 OrthoIllustrated Web Based Orthopaedic Sports Medicine Registry Recruiting NCT01191151
13 The PREVAIL Study Recruiting NCT03260517 Not Applicable
14 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473 Not Applicable
15 PRESSUREwire Study Recruiting NCT02935088
16 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 Not Applicable 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:

41
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 386)
# Title Authors Year
1
Endometrial Carcinoma With an Unusual Morphology in a Patient With Cornelia de Lange Syndrome: A Case Study. ( 29620584 )
2018
2
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. ( 29860495 )
2018
3
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome. ( 29452578 )
2018
4
A Novel Frameshift Mutation (c.5387_5388insTT) in <i>NIPBL</i> in Cornelia de Lange Syndrome with Severe Phenotype. ( 29531005 )
2018
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: To diagnose or not to diagnose in utero? ( 28544538 )
2017
7
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome. ( 29162129 )
2017
8
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
9
Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome. ( 29217785 )
2017
10
Cornelia de lange syndrome with thyroid agenesis of an indonesian patient. ( 28886330 )
2017
11
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. ( 28125439 )
2017
12
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. ( 28855971 )
2017
13
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
14
Cornelia de Lange syndrome: Congenital heart disease in 149 patients. ( 28629661 )
2017
15
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28814979 )
2017
16
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. ( 29279609 )
2017
17
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28806899 )
2017
18
An experimental study of executive function and social impairment in Cornelia de Lange syndrome. ( 28889797 )
2017
19
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome. ( 28679547 )
2017
20
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3. ( 28781842 )
2017
21
Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome. ( 29507843 )
2017
22
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. ( 28120103 )
2017
23
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. ( 28425213 )
2017
24
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
25
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. ( 28190301 )
2017
26
Novel mosaic variants in two patients with Cornelia de Lange syndrome. ( 29155047 )
2017
27
[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case]. ( 28504504 )
2017
28
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. ( 28588001 )
2017
29
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. ( 28826797 )
2017
30
Cornelia de Lange syndrome: What every otolaryngologist should know. ( 28846791 )
2017
31
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts. ( 28752682 )
2017
32
Special cases in Cornelia de Lange syndrome: The Spanish experience. ( 27164022 )
2016
33
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. ( 27882533 )
2016
34
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. ( 27145336 )
2016
35
Cornelia de Lange syndrome. ( 27712336 )
2016
36
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. ( 27145433 )
2016
37
Improvement in hearing loss over time in Cornelia de Lange syndrome. ( 27368472 )
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: Correlation of brain MRI findings with behavioral assessment. ( 27164360 )
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
Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with Cornelia de Lange syndrome. ( 27178514 )
2016
43
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. ( 26701315 )
2016
44
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. ( 26663098 )
2016
45
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. ( 27164219 )
2016
46
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. ( 27148700 )
2016
47
Sleep disorders in Cornelia de Lange syndrome. ( 27133889 )
2016
48
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. ( 26925417 )
2016
49
Cornelia de Lange Syndrome. ( 27307124 )
2016
50
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. ( 27097273 )
2016

Variations for Cornelia De Lange Syndrome

ClinVar genetic disease variations for Cornelia De Lange Syndrome:

6
(show top 50) (show all 296)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NM_133433.3(NIPBL): c.294C> T (p.Ala98=) single nucleotide variant Benign/Likely benign rs142184978 GRCh37 Chromosome 5, 36958269: 36958269
2 NIPBL NM_133433.3(NIPBL): c.294C> T (p.Ala98=) single nucleotide variant Benign/Likely benign rs142184978 GRCh38 Chromosome 5, 36958167: 36958167
3 NIPBL NM_133433.3(NIPBL): c.615G> A (p.Ser205=) single nucleotide variant Conflicting interpretations of pathogenicity rs150678035 GRCh37 Chromosome 5, 36970982: 36970982
4 NIPBL NM_133433.3(NIPBL): c.615G> A (p.Ser205=) single nucleotide variant Conflicting interpretations of pathogenicity rs150678035 GRCh38 Chromosome 5, 36970880: 36970880
5 NIPBL NM_133433.3(NIPBL): c.781T> G (p.Ser261Ala) single nucleotide variant Benign/Likely benign rs16903425 GRCh37 Chromosome 5, 36972056: 36972056
6 NIPBL NM_133433.3(NIPBL): c.781T> G (p.Ser261Ala) single nucleotide variant Benign/Likely benign rs16903425 GRCh38 Chromosome 5, 36971954: 36971954
7 NIPBL NM_133433.3(NIPBL): c.1151A> G (p.Asn384Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2291703 GRCh37 Chromosome 5, 36976160: 36976160
8 NIPBL NM_133433.3(NIPBL): c.1151A> G (p.Asn384Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2291703 GRCh38 Chromosome 5, 36976058: 36976058
9 NIPBL NM_133433.3(NIPBL): c.2065A> T (p.Asn689Tyr) single nucleotide variant Uncertain significance rs201482152 GRCh37 Chromosome 5, 36985347: 36985347
10 NIPBL NM_133433.3(NIPBL): c.2065A> T (p.Asn689Tyr) single nucleotide variant Uncertain significance rs201482152 GRCh38 Chromosome 5, 36985245: 36985245
11 NIPBL NM_133433.3(NIPBL): c.2294G> A (p.Arg765Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185678374 GRCh37 Chromosome 5, 36985576: 36985576
12 NIPBL NM_133433.3(NIPBL): c.2294G> A (p.Arg765Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185678374 GRCh38 Chromosome 5, 36985474: 36985474
13 NIPBL NM_133433.3(NIPBL): c.3121+11T> G single nucleotide variant Benign/Likely benign rs457583 GRCh37 Chromosome 5, 36986414: 36986414
14 NIPBL NM_133433.3(NIPBL): c.3121+11T> G single nucleotide variant Benign/Likely benign rs457583 GRCh38 Chromosome 5, 36986312: 36986312
15 NIPBL NM_133433.3(NIPBL): c.3423A> G (p.Ser1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs571024836 GRCh37 Chromosome 5, 37000593: 37000593
16 NIPBL NM_133433.3(NIPBL): c.3423A> G (p.Ser1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs571024836 GRCh38 Chromosome 5, 37000491: 37000491
17 NIPBL NM_133433.3(NIPBL): c.3541A> C (p.Arg1181=) single nucleotide variant Benign/Likely benign rs35748854 GRCh37 Chromosome 5, 37000957: 37000957
18 NIPBL NM_133433.3(NIPBL): c.3541A> C (p.Arg1181=) single nucleotide variant Benign/Likely benign rs35748854 GRCh38 Chromosome 5, 37000855: 37000855
19 NIPBL NM_133433.3(NIPBL): c.4240-14T> G single nucleotide variant Benign/Likely benign rs298972 GRCh37 Chromosome 5, 37008096: 37008096
20 NIPBL NM_133433.3(NIPBL): c.4240-14T> G single nucleotide variant Benign/Likely benign rs298972 GRCh38 Chromosome 5, 37007994: 37007994
21 NIPBL NM_133433.3(NIPBL): c.4320+14A> G single nucleotide variant Likely benign rs377381536 GRCh37 Chromosome 5, 37008204: 37008204
22 NIPBL NM_133433.3(NIPBL): c.4320+14A> G single nucleotide variant Likely benign rs377381536 GRCh38 Chromosome 5, 37008102: 37008102
23 NIPBL NM_133433.3(NIPBL): c.4321-15A> G single nucleotide variant Uncertain significance rs587783946 GRCh37 Chromosome 5, 37008710: 37008710
24 NIPBL NM_133433.3(NIPBL): c.4321-15A> G single nucleotide variant Uncertain significance rs587783946 GRCh38 Chromosome 5, 37008608: 37008608
25 NIPBL NM_133433.3(NIPBL): c.7830G> C (p.Val2610=) single nucleotide variant Benign/Likely benign rs115668015 GRCh37 Chromosome 5, 37061090: 37061090
26 NIPBL NM_133433.3(NIPBL): c.7830G> C (p.Val2610=) single nucleotide variant Benign/Likely benign rs115668015 GRCh38 Chromosome 5, 37060988: 37060988
27 SMC3 NM_005445.3(SMC3): c.255A> G (p.Ser85=) single nucleotide variant Conflicting interpretations of pathogenicity rs146433240 GRCh37 Chromosome 10, 112337235: 112337235
28 SMC3 NM_005445.3(SMC3): c.255A> G (p.Ser85=) single nucleotide variant Conflicting interpretations of pathogenicity rs146433240 GRCh38 Chromosome 10, 110577477: 110577477
29 SMC3 NM_005445.3(SMC3): c.351-9T> C single nucleotide variant Benign rs78663177 GRCh37 Chromosome 10, 112338377: 112338377
30 SMC3 NM_005445.3(SMC3): c.351-9T> C single nucleotide variant Benign rs78663177 GRCh38 Chromosome 10, 110578619: 110578619
31 SMC3 NM_005445.3(SMC3): c.548-5_548-4dup duplication Benign/Likely benign rs199906378 GRCh38 Chromosome 10, 110581918: 110581919
32 SMC3 NM_005445.3(SMC3): c.548-5_548-4dup duplication Benign/Likely benign rs199906378 GRCh37 Chromosome 10, 112341676: 112341677
33 SMC3 NM_005445.3(SMC3): c.724-6dup duplication Benign rs587784430 GRCh37 Chromosome 10, 112342314: 112342314
34 SMC3 NM_005445.3(SMC3): c.724-6dup duplication Benign rs587784430 GRCh38 Chromosome 10, 110582556: 110582556
35 SMC3 NM_005445.3(SMC3): c.970-8G> A single nucleotide variant Benign rs11195199 GRCh37 Chromosome 10, 112343591: 112343591
36 SMC3 NM_005445.3(SMC3): c.970-8G> A single nucleotide variant Benign rs11195199 GRCh38 Chromosome 10, 110583833: 110583833
37 SMC3 NM_005445.3(SMC3): c.1092-8T> G single nucleotide variant Benign/Likely benign rs79912955 GRCh37 Chromosome 10, 112343933: 112343933
38 SMC3 NM_005445.3(SMC3): c.1092-8T> G single nucleotide variant Benign/Likely benign rs79912955 GRCh38 Chromosome 10, 110584175: 110584175
39 SMC3 NM_005445.3(SMC3): c.1280A> G (p.Lys427Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142524280 GRCh37 Chromosome 10, 112344129: 112344129
40 SMC3 NM_005445.3(SMC3): c.1280A> G (p.Lys427Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142524280 GRCh38 Chromosome 10, 110584371: 110584371
41 SMC3 NM_005445.3(SMC3): c.1365T> C (p.Tyr455=) single nucleotide variant Benign/Likely benign rs75323904 GRCh37 Chromosome 10, 112349422: 112349422
42 SMC3 NM_005445.3(SMC3): c.1365T> C (p.Tyr455=) single nucleotide variant Benign/Likely benign rs75323904 GRCh38 Chromosome 10, 110589664: 110589664
43 SMC3 NM_005445.3(SMC3): c.2007T> C (p.Tyr669=) single nucleotide variant Benign/Likely benign rs147404470 GRCh37 Chromosome 10, 112356199: 112356199
44 SMC3 NM_005445.3(SMC3): c.2007T> C (p.Tyr669=) single nucleotide variant Benign/Likely benign rs147404470 GRCh38 Chromosome 10, 110596441: 110596441
45 SMC3 NM_005445.3(SMC3): c.2329T> C (p.Leu777=) single nucleotide variant Conflicting interpretations of pathogenicity rs76625999 GRCh37 Chromosome 10, 112359472: 112359472
46 SMC3 NM_005445.3(SMC3): c.2329T> C (p.Leu777=) single nucleotide variant Conflicting interpretations of pathogenicity rs76625999 GRCh38 Chromosome 10, 110599714: 110599714
47 SMC3 NM_005445.3(SMC3): c.2535+15T> G single nucleotide variant Conflicting interpretations of pathogenicity rs3818903 GRCh37 Chromosome 10, 112360319: 112360319
48 SMC3 NM_005445.3(SMC3): c.2535+15T> G single nucleotide variant Conflicting interpretations of pathogenicity rs3818903 GRCh38 Chromosome 10, 110600561: 110600561
49 SMC3 NM_005445.3(SMC3): c.2934G> A (p.Lys978=) single nucleotide variant Conflicting interpretations of pathogenicity rs147463420 GRCh37 Chromosome 10, 112361765: 112361765
50 SMC3 NM_005445.3(SMC3): c.2934G> A (p.Lys978=) single nucleotide variant Conflicting interpretations of pathogenicity rs147463420 GRCh38 Chromosome 10, 110602007: 110602007

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:

37
# Name Kegg Source Accession
1 Cell cycle hsa04110
2 Oocyte meiosis hsa04114

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 chromosome GO:0005694 9.81 CDCA5 ESCO2 MAU2 NIPBL RAD21 SMC1A
2 nuclear matrix GO:0016363 9.76 RAD21 SMC1A SMC3 STAG1
3 chromosome, centromeric region GO:0000775 9.73 CDCA5 RAD21 SMC1A SMC3 STAG1 TNKS
4 mitotic spindle pole GO:0097431 9.67 SMC1A SMC3 STAG1 TNKS
5 chromatin GO:0000785 9.5 CDCA5 ESCO2 MAU2 NIPBL RAD21 SMC3
6 meiotic cohesin complex GO:0030893 9.48 SMC1A SMC3
7 Scc2-Scc4 cohesin loading complex GO:0090694 9.43 MAU2 NIPBL
8 SMC loading complex GO:0032116 9.4 MAU2 NIPBL
9 cohesin complex GO:0008278 9.02 CDCA5 RAD21 SMC1A SMC3 STAG1
10 nucleus GO:0005634 10.34 CDCA5 ESCO2 HDAC8 KMT2A MAU2 NIPBL
11 nucleoplasm GO:0005654 10.17 CDCA5 ESCO2 HDAC8 KMT2A MAU2 NAALADL2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.88 HDAC8 KMT2A SETD5 TAF6
2 cell cycle GO:0007049 9.81 CDCA5 ESCO2 MAU2 NIPBL RAD21 SMC1A
3 cell division GO:0051301 9.8 CDCA5 MAU2 RAD21 SMC1A SMC3 STAG1
4 chromosome segregation GO:0007059 9.71 ESCO2 MAU2 RAD21 STAG1
5 stem cell population maintenance GO:0019827 9.69 NIPBL SMC1A SMC3
6 double-strand break repair GO:0006302 9.62 CDCA5 ESCO2 NIPBL RAD21
7 chromosome organization GO:0051276 9.59 SMC1A SMC3
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CHRD SHOX2
9 embryonic digestive tract morphogenesis GO:0048557 9.56 NIPBL SHOX2
10 regulation of DNA replication GO:0006275 9.55 ESCO2 SMC3
11 mitotic chromosome condensation GO:0007076 9.54 CDCA5 NIPBL
12 regulation of mitotic spindle assembly GO:1901673 9.54 SMC1A SMC3 STAG1
13 protein localization to chromatin GO:0071168 9.52 ESCO2 RAD21
14 negative regulation of DNA endoreduplication GO:0032876 9.49 SMC1A SMC3
15 regulation of cohesin loading GO:0071922 9.48 CDCA5 HDAC8
16 maintenance of mitotic sister chromatid cohesion GO:0034088 9.46 MAU2 NIPBL
17 cohesin loading GO:0071921 9.43 MAU2 NIPBL
18 mitotic sister chromatid cohesion GO:0007064 9.26 CDCA5 MAU2 NIPBL SMC1A
19 sister chromatid cohesion GO:0007062 9.1 CDCA5 HDAC8 RAD21 SMC1A SMC3 STAG1
20 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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