BDLS
MCID: CRN015
MIFTS: 51

Cornelia De Lange Syndrome (BDLS) malady

Summaries for Cornelia De Lange Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Cornelia de lange syndrome (cdls) is a developmental disorder that affects many parts of the body. the features of this disorder, including distinctive facial characteristics, growth delays, intellectual disability and limb defects, vary widely among affected individuals and range from relatively mild to severe. this condition is caused by mutations in at least three genes, including nipbl, smc1a, and smc3. in about 35 percent of cases, the cause of cdls remains unknown. cornelia de lange syndrome may be inherited in an autosomal dominant or x-linked pattern of inheritance. most cases result from new gene mutations and occur in people with no history of the condition in their family. last updated: 12/22/2010

MalaCards: 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 SMC3 (structural maintenance of chromosomes 3), and among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Meiotic Synapsis. Affiliated tissues include bone, brain and heart, and related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology:8 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:21 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:63 Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at... more...

Description from OMIM:46 122470

GeneReviews summary for cdls

Aliases & Classifications for Cornelia De Lange Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 34MeSH, 39NCIt, 56SNOMED-CT, 46OMIM, 60UMLS
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Aliases & Descriptions:

cornelia de lange syndrome 8 19 42 20 21 10 44
de lange syndrome 8 19 42 22 21
cdls 19 42 21
brachmann de lange syndrome 8 42
brachmann-de lange syndrome 19 21
bdls 19 21
typus degenerativus amstelodamensis 42


External Ids:

Disease Ontology8 DOID:11725
SNOMED-CT56 40354009
NCIt39 C75016
OMIM46 122470

Related Diseases for Cornelia De Lange Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Cornelia De Lange Syndrome 1 family:

cornelia de lange syndrome Nipbl-Related Cornelia De Lange Syndrome
Smc1a-Related Cornelia De Lange Syndrome Smc3-Related Cornelia De Lange Syndrome
Rad21-Related Cornelia De Lange Syndrome Hdac8-Related Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 4 Cornelia De Lange Syndrome 3
Cornelia De Lange Syndrome 2 Cornelia De Lange Syndrome 5

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1cornelia de lange syndrome 110.7
2cornelia de lange syndrome 210.6
3cornelia de lange syndrome 510.6
4adult syndrome10.6
5smc3-related cornelia de lange syndrome10.6
6coats disease10.5
7congenital diaphragmatic hernia10.5
8epilepsy syndrome10.5
9nipbl-related cornelia de lange syndrome10.5
10smc1a-related cornelia de lange syndrome10.5
11rad21-related cornelia de lange syndrome10.5
12hdac8-related cornelia de lange syndrome10.5
13cornelia de lange syndrome 410.5
14cornelia de lange syndrome 310.5
15silver-russell syndrome10.4
16aniridia10.4
17panhypopituitarism10.4
18microcephaly10.4
19rosacea10.3
20meningocele10.3
21barrett's esophagus10.3
22intestinal volvulus10.3
23cleft palate10.3
24double outlet right ventricle10.3
25ulcerative colitis10.3
26hypertrophic cardiomyopathy10.3
27imperforate anus10.3
28duodenitis10.3
29n syndrome10.3
30adenocarcinoma10.3
31aortic disease10.3
32autism spectrum disorder10.3
33cervicitis10.3
34duodenal obstruction10.3
35esophagus adenocarcinoma10.3
36hypertrichosis10.3
37influenza10.3
38kidney disease10.3
39otitis media10.3
40respiratory failure10.3
41thrombocytopenia10.3
42turner syndrome10.3
43dwarfism10.3
44williams syndrome10.3
45pregnancy loss10.0PAPPA, LEFTY2
46baller-gerold syndrome10.0DDX11L8, DDX11
47intellectual disability10.0SMC3, SMC1A, NIPBL
48roberts syndrome10.0SMC3, ESCO2, NIPBL, SMC1A
49fanconi's anemia10.0THPO, DDX11L8, DDX11

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



Diseases related to cornelia de lange syndrome

Clinical Features for Cornelia De Lange Syndrome

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46OMIM
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Clinical features from OMIM:

122470

Drugs & Therapeutics for Cornelia De Lange Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cornelia De Lange Syndrome

Drug clinical trials:

Search ClinicalTrials for Cornelia De Lange Syndrome

Search NIH Clinical Center for Cornelia De Lange Syndrome

Search CenterWatch for Cornelia De Lange Syndrome

Genetic Tests for Cornelia De Lange Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome20 SMC3
2 De Lange Syndrome22

Anatomical Context for Cornelia De Lange Syndrome

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32MalaCards
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MalaCards organs/tissues related to Cornelia De Lange Syndrome:

32
Bone, Brain, Heart, Kidney, Liver, Pancreas, Testes

Animal Models for Cornelia De Lange Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.0GSC, CHRD, SOX2
2MP:00053829.6ESCO2, GSC, SMC3, CHRD, SHOX2, HDAC8
3MP:00053909.5SMC3, GSC, PAPPA, CHRD, SHOX2, HDAC8
4MP:00053809.5SOX2, GSC, DDX11, HDAC8, LEFTY2, ESCO2
5MP:00053859.4HDAC8, SHOX2, CHRD, CLCN2, DDX11, LEFTY2
6MP:00036319.3GSC, SOX2, ESCO2, LEFTY2, CLCN2, CHRD
7MP:00053819.3CLCN2, SOX2, LEFTY2, GSC, CHRD, SHOX2
8MP:00053789.2PAPPA, LEFTY2, SMC3, CHRD, SHOX2, HDAC8
9MP:00053849.2SOX2, NIPBL, SMC3, SMC1A, RAD21, CHRD
10MP:00107689.0NIPBL, SMC3, GSC, SMC1A, SHOX2, LEFTY2

Publications for Cornelia De Lange Syndrome

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50PubMed
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Articles related to Cornelia De Lange Syndrome:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. (24403048)
2014
2
Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes. (23301903)
2013
3
Cornelia de Lange syndrome in association with ulcerative colitis: a case report. (23587783)
2013
4
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. (23937369)
2013
5
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. (24038889)
2013
6
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. (22106055)
2012
7
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. (22740382)
2012
8
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual. (22676896)
2012
9
Mutation analysis in Chinese patients with Cornelia de Lange syndrome. (22857006)
2012
10
Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. (22965847)
2012
11
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. (22241092)
2012
12
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. (23106691)
2012
13
Cornelia de Lange syndrome - characteristics and laparoscopic treatment modalities of reflux based on own material. (23255978)
2011
14
Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report. (21707975)
2011
15
Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. (20124326)
2010
16
Anesthetic management of an adult patient with Cornelia de Lange Syndrome. (20203551)
2010
17
Aberrant course of the umbilical vein in a newborn with Cornelia de Lange syndrome. (19238371)
2009
18
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. (19242925)
2009
19
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. (19522789)
2009
20
SMC1A expression and mechanism of pathogenicity in probands with X- Linked Cornelia de Lange syndrome. (19701948)
2009
21
Cornelia de Lange syndrome: a case study. (19309268)
2009
22
Social anxiety in Cornelia de Lange syndrome. (19330433)
2009
23
Cornelia de lange syndrome: a recognizable fetal phenotype. (19816032)
2009
24
Health and sleep problems in Cornelia de Lange Syndrome: a case control study. (18341525)
2008
25
A newborn with Cornelia de Lange syndrome: a case report. (19019222)
2008
26
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals. (17845236)
2007
27
A case of Cornelia de Lange syndrome from Sudan. (17261173)
2007
28
Cornelia de Lange syndrome: parental preferences regarding the provision of medical information. (16906566)
2006
29
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. (16236812)
2006
30
Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. (16958143)
2006
31
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. (16100726)
2005
32
Ophthalmologic findings in the Cornelia de Lange Syndrome. (16213388)
2005
33
Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. (15917200)
2005
34
NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder. (15373324)
2004
35
Another explanation for familial Cornelia de Lange syndrome. (12655502)
2003
36
Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome. (12363424)
2002
37
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. (11391654)
2001
38
Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia. (10928594)
2000
39
Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. (10451512)
1999
40
Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. (9089461)
1997
41
Leigh's disease with clinical manifestations of Cornelia de Lange syndrome. (1822133)
1991-1992
42
Ophthalmologic findings in the Cornelia de Lange syndrome. (2348318)
1990
43
Cosmetic surgery for Cornelia de Lange syndrome. (2393778)
1990
44
Modified Orticochea pharyngoplasty for the correction of a feeding problem associated with Cornelia de Lange syndrome. (3364918)
1988
45
Congenital hearing loss in patients with Cornelia de Lange syndrome (a report of two cases). (3323381)
1987
46
Topics in perinatal genetics. Cornelia de Lange syndrome. (3505613)
1987
47
Cornelia de Lange syndrome. (3712402)
1986
48
Chromosomes in the Cornelia de Lange syndrome. (7333580)
1981
49
The Cornelia de Lange syndrome: a study of 9 affected individuals. (973167)
1976
50
The Cornelia de Lange syndrome: radiographic findings. (6015621)
1967

Genetic Variations for Cornelia De Lange Syndrome

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Expression for genes affiliated with Cornelia De Lange Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cornelia De Lange Syndrome

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Pathways for genes affiliated with Cornelia De Lange Syndrome

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53Reactome, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Cornelia De Lange Syndrome

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GO Terms for genes affiliated with Cornelia De Lange Syndrome

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16Gene Ontology
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Cellular components related to Cornelia De Lange Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear meiotic cohesin complexGO:03499110.2SMC3, RAD21
2SMC loading complexGO:03211610.2NIPBL, MAU2
3cohesin complexGO:00827810.1SMC3, RAD21
4chromosome, centromeric regionGO:00077510.1SMC3, SMC1A, RAD21, STAG2
5chromosomeGO:00569410.0SMC3, STAG2, RAD21, SMC1A
6chromatinGO:00078510.0STAG2, MAU2, ESCO2, SMC3
7meiotic cohesin complexGO:03089310.0SMC1A, SMC3
8nucleoplasmGO:0056549.5SMC1A, ESCO2, RAD21, MAU2, DDX11, STAG2
9nucleusGO:0056348.9NIPBL, SOX2, DDX11, SMC1A, HDAC8, SHOX2

Biological processes related to Cornelia De Lange Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1maintenance of mitotic sister chromatid cohesionGO:03408810.4NIPBL, MAU2
2mitotic sister chromatid cohesionGO:00706410.4SMC1A, NIPBL
3negative regulation of DNA endoreduplicationGO:03287610.3STAG2, SMC1A, SMC3
4meiosisGO:00712610.2SMC3, SMC1A, STAG2
5regulation of DNA replicationGO:00627510.2SMC3, ESCO2
6embryonic digestive tract morphogenesisGO:04855710.2SHOX2, NIPBL
7stem cell maintenanceGO:01982710.2SMC3, SMC1A, STAG2, NIPBL
8forebrain developmentGO:03090010.2SOX2, CHRD, GSC
9mitotic spindle organizationGO:00705210.2SMC1A, SMC3
10osteoblast differentiationGO:00164910.1SOX2, SHOX2, CHRD
11sister chromatid cohesionGO:00706210.1SMC3, SMC1A, HDAC8, DDX11, STAG2
12cell divisionGO:05130110.0STAG2, MAU2, RAD21, SMC1A, SMC3
13mitotic sister chromatid segregationGO:0000709.9SMC1A, DDX11
14negative regulation of transcription from RNA polymerase II promoterGO:0001229.9SOX2, NIPBL, HDAC8, SHOX2, GSC
15mitotic cell cycleGO:0002789.6NIPBL, STAG2, HDAC8, MAU2, RAD21, ESCO2

Molecular functions related to Cornelia De Lange Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00368210.0SMC3, SMC1A, NIPBL, SOX2
2mediator complex bindingGO:0360339.8SMC3, SMC1A, NIPBL

Products for genes affiliated with Cornelia De Lange Syndrome

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Sources for Cornelia De Lange Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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