MCID: CRN015
MIFTS: 63

Cornelia De Lange Syndrome

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

Aliases & Classifications for Cornelia De Lange Syndrome

MalaCards integrated aliases for Cornelia De Lange Syndrome:

Name: Cornelia De Lange Syndrome 12 77 25 54 26 60 38 56 6 15 41
De Lange Syndrome 12 25 54 26 45
Brachmann-De Lange Syndrome 25 26 60
Cdls 25 54 26
Typus Degenerativus Amstelodamensis 54 26
Brachmann De Lange Syndrome 12 54
Bdls 25 26

Characteristics:

Orphanet epidemiological data:

60
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:

25
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 : 54 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 3. 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 Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are short neck and high palate

Disease Ontology : 12 A syndrome 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 : 26 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 : 77 Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of... 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 103)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 34.3 CDL1 HDAC8 KMT2A NIPBL NIPBL-DT RAD21
2 cornelia de lange syndrome 3 13.1
3 cornelia de lange syndrome 5 13.1
4 cornelia de lange syndrome 2 13.1
5 cornelia de lange syndrome 4 13.0
6 alazami-yuan syndrome 11.8
7 calvarial doughnut lesions with bone fragility 11.6
8 ritscher-schinzel syndrome 1 11.5
9 intestinal volvulus 10.5
10 trichorhinophalangeal syndrome, type ii 10.4
11 autism 10.4
12 coats disease 10.4
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
14 heart disease 10.4
15 gastroesophageal reflux 10.3
16 diaphragmatic hernia, congenital 10.3
17 down syndrome 10.3
18 sacrococcygeal teratoma 10.3
19 thrombocytopenia 10.3
20 autism spectrum disorder 10.3
21 epilepsy 10.3
22 germinoma 10.3
23 teratoma 10.3
24 dystonia 10.3
25 trichorhinophalangeal syndrome 10.3
26 ring chromosome 3 10.3
27 portal hypertension 10.2
28 aortic valve disease 1 10.1
29 cleft palate, isolated 10.1
30 coarctation of aorta 10.1
31 hypertelorism 10.1
32 kbg syndrome 10.1
33 otitis media 10.1
34 pancreas, annular 10.1
35 septooptic dysplasia 10.1
36 anus, imperforate 10.1
37 cerebellar hypoplasia 10.1
38 coffin-lowry syndrome 10.1
39 aging 10.1
40 wilms tumor 5 10.1
41 chylothorax, congenital 10.1
42 anxiety 10.1
43 endometrial cancer 10.1
44 chromosome 16p13.3 deletion syndrome, proximal 10.1
45 rubinstein-taybi syndrome 2 10.1
46 chromosome 13q14 deletion syndrome 10.1
47 barrett esophagus 10.1
48 meconium ileus 10.1
49 alacrima, achalasia, and mental retardation syndrome 10.1
50 wilms tumor 6 10.1

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:

60 33 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
3 widely spaced teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000687
4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
5 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
9 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
10 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
11 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
12 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
13 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
14 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
15 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
16 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
17 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
18 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
19 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
20 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
21 low posterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0002162
22 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
23 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
24 low anterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0000294
25 highly arched eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002553
26 curly eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0007665
27 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
28 long eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000527
29 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
30 synophrys 60 33 hallmark (90%) Very frequent (99-80%) HP:0000664
31 proximal placement of thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009623
32 atresia of the external auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0000413
33 short 1st metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010034
34 abnormally low-pitched voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0010300
35 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
36 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
37 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
38 sleep disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0002360
39 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
40 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
41 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
42 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
43 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
44 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
45 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
46 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
47 blepharitis 60 33 frequent (33%) Frequent (79-30%) HP:0000498
48 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
49 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
50 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 CHRD CLCN2 ESCO2 HDAC8 KMT2A MAU2
2 craniofacial MP:0005382 9.97 CHRD HDAC8 KMT2A MAU2 NIPBL SETD5
3 growth/size/body region MP:0005378 9.93 CHRD ESCO2 HDAC8 KMT2A MAU2 NIPBL
4 embryo MP:0005380 9.86 CHRD ESCO2 HDAC8 KMT2A MAU2 NIPBL
5 mortality/aging MP:0010768 9.8 CHRD ESCO2 HDAC8 KMT2A MAU2 NIPBL
6 skeleton MP:0005390 9.32 CHRD HDAC8 KMT2A MAU2 NIPBL PAPPA

Drugs & Therapeutics for Cornelia De Lange Syndrome

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Antagonists Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Adrenergic Agents Phase 2, Phase 3
5 Adrenergic beta-Antagonists Phase 2, Phase 3
6 Anti-Arrhythmia Agents Phase 2, Phase 3
7 Antihypertensive Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9
Piperacillin Approved 66258-76-2 43672
10
Tazobactam Approved 89786-04-9 123630
11
Sirolimus Approved, Investigational Not Applicable 53123-88-9 46835353 5284616 6436030
12 Nutrients Not Applicable
13 leucine Not Applicable
14 Piperacillin, Tazobactam Drug Combination
15 Cystatins
16 Anti-Bacterial Agents
17 Anti-Infective Agents
18 beta-Lactamase Inhibitors

Interventional clinical trials:

(show all 12)
# 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 Unknown status 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 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Post-Market Clinical-Follow-Up Study of Suprasorb® C Collagen Wound Dressing Recruiting NCT03444597
8 Pharmacokinetics of Piperacillin and Tazobactam in Critically Ill Patients Recruiting NCT03738683 Piperacillin/tazobactam
9 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920 Not Applicable
10 Web Based Orthopaedic Sports Medicine Registry Recruiting NCT01191151
11 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473 Not Applicable
12 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Terminated NCT03113877

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:

42
Kidney, Heart, Bone, Uterus, Cerebellum, Brain, Eye

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 570)
# Title Authors Year
1
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation. ( 30239720 )
2019
2
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients. ( 30606125 )
2019
3
Cornelia de Lange syndrome in diverse populations. ( 30614194 )
2019
4
Ophthalmologic findings in the Cornelia de Lange syndrome. ( 30767692 )
2019
5
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype. ( 30806031 )
2019
6
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018. ( 30874362 )
2019
7
Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. ( 30879238 )
2019
8
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant. ( 30890023 )
2019
9
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia. ( 30948435 )
2019
10
Diphenhydramine-Refractory Antipsychotic-Induced Dystonia in an Adolescent Male With Cornelia de Lange Syndrome. ( 31019410 )
2019
11
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. ( 28826797 )
2018
12
Novel mosaic variants in two patients with Cornelia de Lange syndrome. ( 29155047 )
2018
13
Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome. ( 29217785 )
2018
14
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. ( 29279609 )
2018
15
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome. ( 29452578 )
2018
16
A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype. ( 29531005 )
2018
17
Endometrial Carcinoma With an Unusual Morphology in a Patient With Cornelia de Lange Syndrome: A Case Study. ( 29620584 )
2018
18
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. ( 29860495 )
2018
19
A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome. ( 29991052 )
2018
20
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. ( 29995837 )
2018
21
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome. ( 30057591 )
2018
22
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. ( 30125677 )
2018
23
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort. ( 30240081 )
2018
24
A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn. ( 30246735 )
2018
25
Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country. ( 30271468 )
2018
26
Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects. ( 30470439 )
2018
27
Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling. ( 30515000 )
2018
28
Cornelia De Lange Syndrome and Cochlear Implantation. ( 30560105 )
2018
29
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
30
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
31
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. ( 27882533 )
2017
32
Behaviour in Cornelia de Lange syndrome: a systematic review. ( 27988966 )
2017
33
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
34
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. ( 28120103 )
2017
35
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. ( 28125439 )
2017
36
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. ( 28190301 )
2017
37
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
38
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. ( 28425213 )
2017
39
Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? ( 28544538 )
2017
40
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. ( 28588001 )
2017
41
Cornelia de Lange syndrome: Congenital heart disease in 149 patients. ( 28629661 )
2017
42
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome. ( 28679547 )
2017
43
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts. ( 28752682 )
2017
44
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3. ( 28781842 )
2017
45
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28806899 )
2017
46
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28814979 )
2017
47
Cornelia de Lange syndrome: What every otolaryngologist should know. ( 28846791 )
2017
48
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. ( 28855971 )
2017
49
Cornelia de lange syndrome with thyroid agenesis of an indonesian patient. ( 28886330 )
2017
50
An experimental study of executive function and social impairment in Cornelia de Lange syndrome. ( 28889797 )
2017

Variations for Cornelia De Lange Syndrome

ClinVar genetic disease variations for Cornelia De Lange Syndrome:

6 (show top 50) (show all 330)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMC1A NM_006306.3(SMC1A): c.-19C> T single nucleotide variant Benign rs1264011 GRCh37 Chromosome X, 53449568: 53449568
2 SMC1A NM_006306.3(SMC1A): c.-19C> T single nucleotide variant Benign rs1264011 GRCh38 Chromosome X, 53422619: 53422619
3 SMC1A NM_006306.3(SMC1A): c.2197-5T> C single nucleotide variant Benign/Likely benign rs2297104 GRCh37 Chromosome X, 53430830: 53430830
4 SMC1A NM_006306.3(SMC1A): c.2197-5T> C single nucleotide variant Benign/Likely benign rs2297104 GRCh38 Chromosome X, 53403898: 53403898
5 SMC1A NM_006306.3(SMC1A): c.3591C> T (p.Ala1197=) single nucleotide variant Benign/Likely benign rs146216425 GRCh37 Chromosome X, 53407568: 53407568
6 SMC1A NM_006306.3(SMC1A): c.3591C> T (p.Ala1197=) single nucleotide variant Benign/Likely benign rs146216425 GRCh38 Chromosome X, 53380647: 53380647
7 SMC1A NM_006306.3(SMC1A): c.412-10C> T single nucleotide variant Benign/Likely benign rs149219651 GRCh37 Chromosome X, 53440395: 53440395
8 SMC1A NM_006306.3(SMC1A): c.412-10C> T single nucleotide variant Benign/Likely benign rs149219651 GRCh38 Chromosome X, 53413445: 53413445
9 NIPBL NM_133433.3(NIPBL): c.1495+8_1495+10delAAT deletion Benign/Likely benign rs398124464 GRCh37 Chromosome 5, 36976512: 36976514
10 NIPBL NM_133433.3(NIPBL): c.1495+8_1495+10delAAT deletion Benign/Likely benign rs398124464 GRCh38 Chromosome 5, 36976410: 36976412
11 NIPBL NM_133433.3(NIPBL): c.1985A> G (p.Lys662Arg) single nucleotide variant Benign/Likely benign rs140100861 GRCh37 Chromosome 5, 36985267: 36985267
12 NIPBL NM_133433.3(NIPBL): c.1985A> G (p.Lys662Arg) single nucleotide variant Benign/Likely benign rs140100861 GRCh38 Chromosome 5, 36985165: 36985165
13 NIPBL NM_133433.3(NIPBL): c.198C> G (p.Val66=) single nucleotide variant Benign/Likely benign rs146033170 GRCh37 Chromosome 5, 36955707: 36955707
14 NIPBL NM_133433.3(NIPBL): c.198C> G (p.Val66=) single nucleotide variant Benign/Likely benign rs146033170 GRCh38 Chromosome 5, 36955605: 36955605
15 NIPBL NM_015384.4(NIPBL): c.2021A> G (p.Asn674Ser) single nucleotide variant Benign rs3822471 GRCh37 Chromosome 5, 36985303: 36985303
16 NIPBL NM_015384.4(NIPBL): c.2021A> G (p.Asn674Ser) single nucleotide variant Benign rs3822471 GRCh38 Chromosome 5, 36985201: 36985201
17 NIPBL NM_133433.3(NIPBL): c.2469A> G (p.Lys823=) single nucleotide variant Benign/Likely benign rs293756 GRCh37 Chromosome 5, 36985751: 36985751
18 NIPBL NM_133433.3(NIPBL): c.2469A> G (p.Lys823=) single nucleotide variant Benign/Likely benign rs293756 GRCh38 Chromosome 5, 36985649: 36985649
19 NIPBL NM_015384.4(NIPBL): c.3015A> G (p.Leu1005=) single nucleotide variant Benign/Likely benign rs1669445 GRCh37 Chromosome 5, 36986297: 36986297
20 NIPBL NM_015384.4(NIPBL): c.3015A> G (p.Leu1005=) single nucleotide variant Benign/Likely benign rs1669445 GRCh38 Chromosome 5, 36986195: 36986195
21 NIPBL NM_133433.3(NIPBL): c.4421+7A> G single nucleotide variant Benign/Likely benign rs76297333 GRCh37 Chromosome 5, 37008832: 37008832
22 NIPBL NM_133433.3(NIPBL): c.4421+7A> G single nucleotide variant Benign/Likely benign rs76297333 GRCh38 Chromosome 5, 37008730: 37008730
23 NIPBL NM_133433.3(NIPBL): c.4561-9T> A single nucleotide variant Benign/Likely benign rs79924167 GRCh37 Chromosome 5, 37014776: 37014776
24 NIPBL NM_133433.3(NIPBL): c.4561-9T> A single nucleotide variant Benign/Likely benign rs79924167 GRCh38 Chromosome 5, 37014674: 37014674
25 NIPBL NM_133433.3(NIPBL): c.535G> A (p.Ala179Thr) single nucleotide variant Benign/Likely benign rs142923613 GRCh37 Chromosome 5, 36962301: 36962301
26 NIPBL NM_133433.3(NIPBL): c.535G> A (p.Ala179Thr) single nucleotide variant Benign/Likely benign rs142923613 GRCh38 Chromosome 5, 36962199: 36962199
27 NIPBL NM_133433.3(NIPBL): c.5874C> T (p.Ser1958=) single nucleotide variant Benign rs61748200 GRCh37 Chromosome 5, 37036492: 37036492
28 NIPBL NM_133433.3(NIPBL): c.5874C> T (p.Ser1958=) single nucleotide variant Benign rs61748200 GRCh38 Chromosome 5, 37036390: 37036390
29 NIPBL NM_133433.3(NIPBL): c.6109-3T> C single nucleotide variant Benign/Likely benign rs145778995 GRCh37 Chromosome 5, 37044446: 37044446
30 NIPBL NM_133433.3(NIPBL): c.6109-3T> C single nucleotide variant Benign/Likely benign rs145778995 GRCh38 Chromosome 5, 37044344: 37044344
31 NIPBL NM_133433.3(NIPBL): c.1965G> T (p.Glu655Asp) single nucleotide variant Benign/Likely benign rs80358350 GRCh37 Chromosome 5, 36985247: 36985247
32 NIPBL NM_133433.3(NIPBL): c.1965G> T (p.Glu655Asp) single nucleotide variant Benign/Likely benign rs80358350 GRCh38 Chromosome 5, 36985145: 36985145
33 NIPBL NM_133433.3(NIPBL): c.294C> T (p.Ala98=) single nucleotide variant Benign/Likely benign rs142184978 GRCh37 Chromosome 5, 36958269: 36958269
34 NIPBL NM_133433.3(NIPBL): c.294C> T (p.Ala98=) single nucleotide variant Benign/Likely benign rs142184978 GRCh38 Chromosome 5, 36958167: 36958167
35 NIPBL NM_133433.3(NIPBL): c.615G> A (p.Ser205=) single nucleotide variant Conflicting interpretations of pathogenicity rs150678035 GRCh37 Chromosome 5, 36970982: 36970982
36 NIPBL NM_133433.3(NIPBL): c.615G> A (p.Ser205=) single nucleotide variant Conflicting interpretations of pathogenicity rs150678035 GRCh38 Chromosome 5, 36970880: 36970880
37 NIPBL NM_133433.3(NIPBL): c.781T> G (p.Ser261Ala) single nucleotide variant Benign/Likely benign rs16903425 GRCh37 Chromosome 5, 36972056: 36972056
38 NIPBL NM_133433.3(NIPBL): c.781T> G (p.Ser261Ala) single nucleotide variant Benign/Likely benign rs16903425 GRCh38 Chromosome 5, 36971954: 36971954
39 NIPBL NM_133433.3(NIPBL): c.1151A> G (p.Asn384Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2291703 GRCh37 Chromosome 5, 36976160: 36976160
40 NIPBL NM_133433.3(NIPBL): c.1151A> G (p.Asn384Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2291703 GRCh38 Chromosome 5, 36976058: 36976058
41 NIPBL NM_133433.3(NIPBL): c.2065A> T (p.Asn689Tyr) single nucleotide variant Uncertain significance rs201482152 GRCh37 Chromosome 5, 36985347: 36985347
42 NIPBL NM_133433.3(NIPBL): c.2065A> T (p.Asn689Tyr) single nucleotide variant Uncertain significance rs201482152 GRCh38 Chromosome 5, 36985245: 36985245
43 NIPBL NM_133433.3(NIPBL): c.2294G> A (p.Arg765Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185678374 GRCh37 Chromosome 5, 36985576: 36985576
44 NIPBL NM_133433.3(NIPBL): c.2294G> A (p.Arg765Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185678374 GRCh38 Chromosome 5, 36985474: 36985474
45 NIPBL NM_133433.3(NIPBL): c.3121+11T> G single nucleotide variant Benign/Likely benign rs457583 GRCh37 Chromosome 5, 36986414: 36986414
46 NIPBL NM_133433.3(NIPBL): c.3121+11T> G single nucleotide variant Benign/Likely benign rs457583 GRCh38 Chromosome 5, 36986312: 36986312
47 NIPBL NM_133433.3(NIPBL): c.3423A> G (p.Ser1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs571024836 GRCh37 Chromosome 5, 37000593: 37000593
48 NIPBL NM_133433.3(NIPBL): c.3423A> G (p.Ser1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs571024836 GRCh38 Chromosome 5, 37000491: 37000491
49 NIPBL NM_133433.3(NIPBL): c.3541A> C (p.Arg1181=) single nucleotide variant Benign/Likely benign rs35748854 GRCh37 Chromosome 5, 37000957: 37000957
50 NIPBL NM_133433.3(NIPBL): c.3541A> C (p.Arg1181=) single nucleotide variant Benign/Likely benign rs35748854 GRCh38 Chromosome 5, 37000855: 37000855

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:

38
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 ESCO2 HDAC8 MAU2 NIPBL RAD21 SMC1A
2
Show member pathways
12.6 HDAC8 RAD21 SMC1A SMC3 STAG1 STAG2
3
Show member pathways
12.39 RAD21 SMC1A SMC3 STAG1 STAG2
4
Show member pathways
12.29 RAD21 SMC1A SMC3 STAG1 STAG2
5
Show member pathways
12.27 HDAC8 RAD21 SMC1A SMC3 STAG1 STAG2
6 12.25 RAD21 SMC1A SMC3 STAG2
7 12.17 KMT2A RAD21 SMC1A SMC3 STAG2
8 11.99 HDAC8 RAD21 SMC1A SMC3 STAG1 STAG2
9 11.33 RAD21 SMC1A SMC3 STAG1 STAG2
10
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 12)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.91 ESCO2 MAU2 NIPBL RAD21 SMC1A SMC3
2 nuclear matrix GO:0016363 9.8 RAD21 SMC1A SMC3 STAG1 STAG2
3 chromosome, centromeric region GO:0000775 9.72 RAD21 SMC1A SMC3 STAG1 STAG2
4 meiotic cohesin complex GO:0030893 9.61 RAD21 SMC1A SMC3
5 mitotic spindle pole GO:0097431 9.55 SMC1A SMC3 STAG1 STAG2 TNKS
6 MLL1 complex GO:0071339 9.51 KMT2A TAF6
7 chromatin GO:0000785 9.5 ESCO2 MAU2 NIPBL RAD21 SMC3 STAG1
8 Scc2-Scc4 cohesin loading complex GO:0090694 9.48 MAU2 NIPBL
9 SMC loading complex GO:0032116 9.46 MAU2 NIPBL
10 cohesin complex GO:0008278 9.02 RAD21 SMC1A SMC3 STAG1 STAG2
11 nucleus GO:0005634 10.34 ESCO2 HDAC8 KMT2A MAU2 NIPBL RAD21
12 nucleoplasm GO:0005654 10.21 ESCO2 HDAC8 KMT2A MAU2 NAALADL2 NIPBL

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 HDAC8 KMT2A NIPBL STAG1 TNKS
2 cell division GO:0051301 9.87 MAU2 RAD21 SMC1A SMC3 STAG1 STAG2
3 chromatin organization GO:0006325 9.86 HDAC8 KMT2A SETD5 TAF6
4 meiotic cell cycle GO:0051321 9.76 RAD21 SMC1A SMC3 STAG2
5 double-strand break repair GO:0006302 9.69 ESCO2 NIPBL RAD21
6 stem cell population maintenance GO:0019827 9.67 NIPBL SMC1A SMC3
7 chromosome segregation GO:0007059 9.65 ESCO2 MAU2 RAD21 STAG1 STAG2
8 cell cycle GO:0007049 9.61 ESCO2 MAU2 NIPBL RAD21 SMC1A SMC3
9 embryonic forelimb morphogenesis GO:0035115 9.59 NIPBL SHOX2
10 chromosome organization GO:0051276 9.58 SMC1A SMC3
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CHRD SHOX2
12 mitotic sister chromatid cohesion GO:0007064 9.58 MAU2 NIPBL SMC1A
13 regulation of DNA replication GO:0006275 9.55 ESCO2 SMC3
14 embryonic digestive tract morphogenesis GO:0048557 9.54 NIPBL SHOX2
15 negative regulation of DNA endoreduplication GO:0032876 9.54 SMC1A SMC3 STAG2
16 protein localization to chromatin GO:0071168 9.52 ESCO2 RAD21
17 maintenance of mitotic sister chromatid cohesion GO:0034088 9.48 MAU2 NIPBL
18 regulation of mitotic spindle assembly GO:1901673 9.46 SMC1A SMC3 STAG1 STAG2
19 cohesin loading GO:0071921 9.43 MAU2 NIPBL
20 sister chromatid cohesion GO:0007062 9.1 ESCO2 HDAC8 RAD21 SMC1A SMC3 STAG2

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 9.43 NIPBL RAD21 SMC1A SMC3 STAG1 STAG2
2 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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