BDLS
MCID: CRN015
MIFTS: 62

Cornelia De Lange Syndrome (BDLS) malady

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

Aliases & Classifications for Cornelia De Lange Syndrome

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:11725
ICD10 33 Q87.1
MeSH 42 D003635
NCIt 47 C75016
SNOMED-CT 64 40354009
Orphanet 56 ORPHA199
MESH via Orphanet 43 D003635
UMLS via Orphanet 70 C0270972
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0270972

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 1 and cornelia de lange syndrome 2, and has symptoms including seizures, joint stiffness and short neck. 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 Metaphase and Anaphase. The drugs Efavirenz and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are mortality/aging and craniofacial

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 : 71 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 71)
id Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 12.7
2 cornelia de lange syndrome 2 12.7
3 cornelia de lange syndrome 4 12.6
4 cornelia de lange syndrome 5 12.6
5 cornelia de lange syndrome 3 12.6
6 rad21-related cornelia de lange syndrome 12.2
7 smc3-related cornelia de lange syndrome 12.2
8 nipbl-related cornelia de lange syndrome 12.2
9 smc1a-related cornelia de lange syndrome 12.2
10 hdac8-related cornelia de lange syndrome 12.1
11 alazami-yuan syndrome 11.2
12 nanophthalmos 2 10.2 SMC1A SMC3
13 nr2e3-related retinitis pigmentosa 10.2 NIPBL TAF6
14 autism spectrum disorder 10.2
15 coats disease 10.2
16 anemia, sideroblastic, x-linked 10.2 CDL2 SMC1A
17 spastic paraplegia 37, autosomal dominant 10.1 ESCO2 RAD21 SMC3
18 congenital diaphragmatic hernia 10.1
19 ring chromosome 3 10.1
20 intellectual disability 10.1
21 gastroesophageal reflux 10.1
22 epilepsy 10.1
23 cervicitis 10.1
24 trichorhinophalangeal syndrome 10.1
25 sacrococcygeal teratoma 10.1
26 thrombocytopenia 10.1
27 teratoma 10.1
28 pik3ca-associated segmental overgrowth 10.1 ESCO2 NIPBL SMC1A SMC3
29 osteogenesis imperfecta, type xiii 10.1 ESCO2 NIPBL SMC1A SMC3
30 hyperammonemia due to carbonic anhydrase va deficiency 10.1 HDAC8 NIPBL RAD21 SMC1A SMC3
31 xq28 duplication syndrome, int22h1/int22h2 mediated 10.0 RAD21 TRPS1
32 silver-russell syndrome 10.0
33 aniridia 10.0
34 glucocorticoid deficiency 4 10.0 CDL1 NIPBL RAD21 SMC1A SMC3 TAF6
35 fetal alcohol spectrum disorder 9.9
36 duodenal obstruction 9.9
37 horseshoe kidney 9.9
38 colitis 9.9
39 hypertrichosis 9.9
40 cardiomyopathy 9.9
41 omphalocele 9.9
42 sleep disorder 9.9
43 imperforate anus 9.9
44 dystonia 9.9
45 otitis media 9.9
46 meningocele 9.9
47 kidney disease 9.9
48 microtia 9.9
49 respiratory failure 9.9
50 intestinal obstruction 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 seizures 56 32 Occasional (29-5%) HP:0001250
2 joint stiffness 56 32 Frequent (79-30%) HP:0001387
3 short neck 56 32 Very frequent (99-80%) HP:0000470
4 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
5 high palate 56 32 Very frequent (99-80%) HP:0000218
6 ptosis 56 32 Frequent (79-30%) HP:0000508
7 nystagmus 56 32 Occasional (29-5%) HP:0000639
8 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
9 failure to thrive 56 32 Frequent (79-30%) HP:0001508
10 neurological speech impairment 56 32 Frequent (79-30%) HP:0002167
11 sleep disturbance 56 32 Frequent (79-30%) HP:0002360
12 macrotia 56 32 Occasional (29-5%) HP:0000400
13 cataract 56 32 Occasional (29-5%) HP:0000518
14 widely spaced teeth 56 32 Very frequent (99-80%) HP:0000687
15 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
16 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
17 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
18 short nose 56 32 Very frequent (99-80%) HP:0003196
19 microcephaly 56 32 Very frequent (99-80%) HP:0000252
20 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
21 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
22 thick eyebrow 56 32 Very frequent (99-80%) HP:0000574
23 short stature 56 32 Very frequent (99-80%) HP:0004322
24 hypertonia 56 32 Very frequent (99-80%) HP:0001276
25 gastroesophageal reflux 56 32 Very frequent (99-80%) HP:0002020
26 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
27 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
28 delayed puberty 56 32 Occasional (29-5%) HP:0000823
29 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
30 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
31 cleft palate 56 32 Occasional (29-5%) HP:0000175
32 long philtrum 56 32 Very frequent (99-80%) HP:0000343
33 micrognathia 56 32 Very frequent (99-80%) HP:0000347
34 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
35 strabismus 56 32 Occasional (29-5%) HP:0000486
36 delayed eruption of teeth 56 32 Very frequent (99-80%) HP:0000684
37 micromelia 56 32 Very frequent (99-80%) HP:0002983
38 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
39 short foot 56 32 Very frequent (99-80%) HP:0001773
40 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
41 autism 56 32 Occasional (29-5%) HP:0000717
42 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
43 low posterior hairline 56 32 Very frequent (99-80%) HP:0002162
44 anxiety 56 32 Frequent (79-30%) HP:0000739
45 primary amenorrhea 56 32 Occasional (29-5%) HP:0000786
46 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
47 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
48 aplasia/hypoplasia of the cerebellum 56 32 Occasional (29-5%) HP:0007360
49 hip dislocation 56 32 Occasional (29-5%) HP:0002827
50 myopia 56 32 Frequent (79-30%) HP:0000545

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 CHRD CTCF ESCO2 HDAC8 MAU2 NIPBL
2 craniofacial MP:0005382 9.76 CHRD HDAC8 MAU2 NIPBL PDS5A SHOX2
3 skeleton MP:0005390 9.28 CHRD HDAC8 MAU2 NIPBL PAPPA PDS5A

Drugs & Therapeutics for Cornelia De Lange Syndrome

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

(show top 50) (show all 123)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
2
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
3
Nevirapine Approved Phase 4 129618-40-2 4463
4
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
5
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
6
Tenofovir Approved, Investigational Phase 4 147127-20-6 464205
7
Zidovudine Approved Phase 4 30516-87-1 35370
8
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
9
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
10
Methyltestosterone Approved Phase 4 58-18-4 6010
11
Testosterone Approved, Investigational Phase 4 58-22-0 6013
12
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
13
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
14 Anti-Infective Agents Phase 4,Phase 3,Phase 2
15 Antiviral Agents Phase 4,Phase 3,Phase 2
16 Anti-HIV Agents Phase 4,Phase 3,Phase 2
17 Antimetabolites Phase 4,Phase 3
18 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
19 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
20 Cytochrome P-450 CYP3A Inducers Phase 4
21 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2
22 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
23 Reverse Transcriptase Inhibitors Phase 4
24 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
25 Antineoplastic Agents, Hormonal Phase 4,Phase 3
26 Hormone Antagonists Phase 4,Phase 3,Phase 2
27 Hormones Phase 4,Phase 3,Phase 2
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
29 Progestins Phase 4,Phase 2
30 Anabolic Agents Phase 4
31 Androgens Phase 4
32 Testosterone 17 beta-cypionate Phase 4
33
Testosterone enanthate Phase 4 315-37-7 9416
34 Testosterone undecanoate Phase 4
35 Vitamin B 6 Phase 4
36
Aldesleukin Approved Phase 3 85898-30-2, 110942-02-4
37
Asparaginase Approved Phase 3 9015-68-3
38
Busulfan Approved, Investigational Phase 3 55-98-1 2478
39
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
40
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
41
Daunorubicin Approved Phase 3 20830-81-3 30323
42
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
43
Etoposide Approved Phase 3 33419-42-0 36462
44
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
45
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
46
Idarubicin Approved Phase 3 58957-92-9 42890
47
Lenograstim Approved Phase 3 135968-09-1
48
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
49
Thioguanine Approved Phase 3 154-42-7 2723601
50
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 2NN & CHARM Long-Term Follow-up Study Completed NCT00127972 Phase 4
2 Virological and Clinical Anti-Hepatitis B Virus (HBV) Efficacy of Tenofovir and Emtricitabine in Patients With HIV/HBV co-Infection Completed NCT00127959 Phase 4
3 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
4 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Recruiting NCT02513940 Phase 4
5 Prevention of Early Mortality by Presumptive Tuberculosis (TB) Treatment Terminated NCT01417988 Phase 4
6 Sequential HIV Therapy in Treatment Resistant HIV-1 Infected Patients Terminated NCT00128908 Phase 4
7 Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00002798 Phase 3
8 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3
9 Evaluation of the Effects of Canagliflozin on Renal and Cardiovascular Outcomes in Participants With Diabetic Nephropathy Recruiting NCT02065791 Phase 3
10 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Enrolling by invitation NCT01538550 Phase 3
11 Study of Acute Uncomplicated Seasonal Influenza A in Adult Subjects Unknown status NCT02342249 Phase 2
12 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2
13 Succinylated Human Serum Albumin (Suc-HSA) for HIV-1 Infection Completed NCT00128063 Phase 1, Phase 2
14 The Pharmacokinetics of Double Boosted Protease Inhibitors in Antiretroviral-naive HIV-1 Infected Patients Completed NCT00400738 Phase 2
15 Vagus Nerve Stimulation for Treating Adults With Severe Fibromyalgia Completed NCT00294281 Phase 1
16 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
17 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
18 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
19 The Long QT Syndrome in Pregnancy Completed NCT00488254
20 IMproved PREdiction of Severe Sepsis in the Emergency Department Completed NCT01392508
21 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
24 PRESSUREwire Study Recruiting NCT02935088
25 The Direct III Post Market Study Recruiting NCT02693158
26 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753

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, Eye, Uterus, Cerebellum, Brain

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 355)
id Title Authors Year
1
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
2
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
3
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
4
Cornelia de Lange Syndrome. ( 27307124 )
2016
5
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. ( 26701315 )
2016
6
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. ( 27145433 )
2016
7
A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study. ( 27042551 )
2016
8
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. ( 27164219 )
2016
9
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. ( 27164360 )
2016
10
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. ( 26663098 )
2016
11
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. ( 27148700 )
2016
12
Sleep disorders in Cornelia de Lange syndrome. ( 27133889 )
2016
13
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. ( 27576763 )
2016
14
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. ( 26925417 )
2016
15
Characterization of limb differences in children with Cornelia de Lange Syndrome. ( 27120260 )
2016
16
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. ( 27291393 )
2016
17
Behaviour in Cornelia de Lange syndrome: a systematic review. ( 27988966 )
2016
18
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. ( 27088280 )
2016
19
Cornelia de Lange syndrome. ( 27712336 )
2016
20
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. ( 27097273 )
2016
21
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome. ( 27163126 )
2016
22
Improvement in hearing loss over time in Cornelia de Lange syndrome. ( 27368472 )
2016
23
Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome. ( 27120109 )
2016
24
Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. ( 27120001 )
2016
25
Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with Cornelia de Lange syndrome. ( 27178514 )
2016
26
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. ( 27145336 )
2016
27
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. ( 27882533 )
2016
28
Special cases in Cornelia de Lange syndrome: The Spanish experience. ( 27164022 )
2016
29
Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1. ( 26522117 )
2015
30
Sigmoid Volvulus: An Underestimated Cause of Intestinal Obstruction in Cornelia de Lange Syndrome. ( 26233605 )
2015
31
Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome. ( 26164757 )
2015
32
Unpredictable drug reaction in a child with Cornelia de Lange syndrome. ( 25515614 )
2015
33
Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior. ( 26544867 )
2015
34
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma? ( 26437745 )
2015
35
Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome. ( 26605036 )
2015
36
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. ( 25447906 )
2015
37
Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing. ( 26354354 )
2015
38
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
39
Dental management of cornelia de lange syndrome: a rare case report. ( 25859533 )
2015
40
Cornelia de Lange syndrome: Specific features for a prenatal diagnosis. ( 26480950 )
2015
41
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes. ( 25655089 )
2015
42
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. ( 26229571 )
2015
43
Severe complication of catatonia in a young patient with Hashimoto's encephalopathy comorbid with Cornelia de Lange syndrome. ( 25600923 )
2015
44
Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma. ( 26276849 )
2015
45
Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics. ( 25196272 )
2015
46
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium. ( 25899772 )
2015
47
Neuroimaging features of Cornelia de Lange syndrome. ( 25701113 )
2015
48
Anesthetic considerations in a patient with Cornelia de-Lange syndrome. ( 26330737 )
2015
49
Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome. ( 25591769 )
2015
50
Cornelia de Lange Syndrome. ( 26537453 )
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 chromosome GO:0005694 9.73 CTCF ESCO2 PDS5A RAD21 SMC1A SMC3
2 meiotic cohesin complex GO:0030893 9.4 SMC1A SMC3
3 chromosome, centromeric region GO:0000775 9.35 CTCF PDS5A RAD21 SMC1A SMC3
4 cohesin complex GO:0008278 9.33 RAD21 SMC1A SMC3
5 SMC loading complex GO:0032116 9.32 MAU2 NIPBL
6 chromatin GO:0000785 9.1 ESCO2 MAU2 NIPBL PDS5A RAD21 SMC3
7 nucleoplasm GO:0005654 10.11 CTCF ESCO2 HDAC8 MAU2 NIPBL PDS5A

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.98 CTCF HDAC8 NIPBL SHOX2 TRPS1
2 cell division GO:0051301 9.85 MAU2 PDS5A RAD21 SMC1A SMC3
3 DNA repair GO:0006281 9.84 PDS5A RAD21 SMC1A SMC3
4 skeletal system development GO:0001501 9.75 CHRD SHOX2 TRPS1
5 mitotic nuclear division GO:0007067 9.72 MAU2 PDS5A RAD21 SMC1A SMC3
6 cell cycle GO:0007049 9.7 ESCO2 MAU2 NIPBL PDS5A RAD21 SMC1A
7 stem cell population maintenance GO:0019827 9.61 NIPBL SMC1A SMC3
8 meiotic nuclear division GO:0007126 9.57 SMC1A SMC3
9 chromosome organization GO:0051276 9.56 SMC1A SMC3
10 chromosome segregation GO:0007059 9.56 CTCF ESCO2 MAU2 RAD21
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.55 CHRD SHOX2
12 embryonic digestive tract morphogenesis GO:0048557 9.52 NIPBL SHOX2
13 regulation of DNA replication GO:0006275 9.51 ESCO2 SMC3
14 protein localization to chromatin GO:0071168 9.49 ESCO2 RAD21
15 regulation of chondrocyte differentiation GO:0032330 9.48 SHOX2 TRPS1
16 negative regulation of DNA endoreduplication GO:0032876 9.4 SMC1A SMC3
17 maintenance of mitotic sister chromatid cohesion GO:0034088 9.37 MAU2 NIPBL
18 sister chromatid cohesion GO:0007062 9.35 HDAC8 PDS5A RAD21 SMC1A SMC3
19 mitotic sister chromatid cohesion GO:0007064 9.02 MAU2 NIPBL PDS5A SMC1A SMC3

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 9.43 CTCF NIPBL RAD21 SMC1A SMC3 TRPS1
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.33 CTCF RAD21 TRPS1
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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