BDLS
MCID: CRN015
MIFTS: 45

Cornelia De Lange Syndrome (BDLS) malady

Summaries for Cornelia De Lange Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 n syndrome and cornelia de lange syndrome 1. 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 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:64 Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at... more...

Description from OMIM:47 122470

GeneReviews summary for cdls

Aliases & Classifications for Cornelia De Lange Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 22GTR, 35MeSH, 40NCIt, 57SNOMED-CT, 47OMIM, 61UMLS
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Aliases & Descriptions:

cornelia de lange syndrome 8 19 43 20 21 10 45
de lange syndrome 8 19 43 22 21
cdls 19 43 21
brachmann de lange syndrome 8 43
brachmann-de lange syndrome 19 21
bdls 19 21
typus degenerativus amstelodamensis 43


External Ids:

Disease Ontology8 DOID:11725
SNOMED-CT57 40354009
NCIt40 C75016
OMIM47 122470

Related Diseases for Cornelia De Lange Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the cornelia de lange syndrome 1 family:

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 top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome11.2
2cornelia de lange syndrome 110.8
3cornelia de lange syndrome 210.6
4cornelia de lange syndrome 510.6
5adult syndrome10.6
6char syndrome10.6
7smc3-related cornelia de lange syndrome10.6
8coats disease10.5
9congenital diaphragmatic hernia10.5
10germinoma10.5
11kid syndrome10.5
12mental retardation10.5
13nipbl-related cornelia de lange syndrome10.5
14smc1a-related cornelia de lange syndrome10.5
15rad21-related cornelia de lange syndrome10.5
16hdac8-related cornelia de lange syndrome10.5
17cornelia de lange syndrome 410.5
18cornelia de lange syndrome 310.5
19silver-russell syndrome10.4
20aniridia10.4
21costello syndrome10.4
22panhypopituitarism10.4
23microcephaly10.4
24metatarsus adductus10.4
25ulnar hemimelia, bilateral10.4
26ulnar hemimelia10.4
27rosacea10.3
28leigh disease10.3
29meningocele10.3
30barrett's esophagus10.3
31intestinal volvulus10.3
32cleft palate10.3
33ulcerative colitis10.3
34hypertrophic cardiomyopathy10.3
35imperforate anus10.3
36down syndrome10.3
37arc syndrome10.3
38adenocarcinoma10.3
39aortic disease10.3
40autism spectrum disorder10.3
41thrombocytopenia10.3
42turner syndrome10.3
43dwarfism10.3
44micro syndrome10.3
45williams syndrome10.3
46annular pancreas10.3
47aortopulmonary window10.3
48young syndrome10.3
49cerebellar hypoplasia10.3
50septo-optic dysplasia10.3

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

Sources:
47OMIM
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Clinical features from OMIM:

122470

Drugs & Therapeutics for Cornelia De Lange Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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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33MalaCards
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MalaCards organs/tissues related to Cornelia De Lange Syndrome:

33
Heart

Animal Models for Cornelia De Lange Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Cornelia De Lange Syndrome

Sources:
51PubMed
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Articles related to Cornelia De Lange Syndrome:

(show all 27)
idTitleAuthorsYear
1
Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. (23920377)
2013
2
Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes. (23301903)
2013
3
A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. (24189319)
2013
4
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. (23933416)
2013
5
Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF. (23760082)
2013
6
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. (22106055)
2012
7
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL. (21934607)
2012
8
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. (22039349)
2011
9
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. (22069164)
2011
10
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. (20824775)
2010
11
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. (19763162)
2009
12
Dental findings in Cornelia de Lange syndrome. (19430566)
2009
13
Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. (19764039)
2009
14
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. (18470924)
2008
15
Descriptive epidemiology of Cornelia de Lange syndrome in Europe. (18074387)
2008
16
Cornelia de Lange syndrome: description of the orofacial features and case report. (19886366)
2008
17
Chromosome 13q deletion with Cornelia de Lange syndrome phenotype. (17682579)
2007
18
Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization. (17497725)
2007
19
Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. (17652350)
2007
20
A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype. (15844775)
2005
21
Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. (15917200)
2005
22
NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder. (15373324)
2004
23
Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. (9089461)
1997
24
Specific neurocognitive deficits in Cornelia de Lange syndrome. (8195434)
1994
25
Typus Degenerativus Amstelodamensis Cornelia de-Lange syndrome: (case report). (7275925)
1981
26
The Cornelia de Lange syndrome. Typus degenerativus Amstelodamensis. Histologic studies of the marginal gingiva. (4099522)
1970
27
Dermatological manifestations of the Cornelia de Lange syndrome. (5939543)
1966

Genetic Variations for Cornelia De Lange Syndrome

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

Search GEO for disease gene expression data for Cornelia De Lange Syndrome.

Pathways for genes affiliated with Cornelia De Lange Syndrome

Sources:
54Reactome, 4Cell Signaling Technology, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Cornelia De Lange Syndrome

GO Terms for genes affiliated with Cornelia De Lange Syndrome

Sources:
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:03211610.2MAU2, NIPBL
3meiotic cohesin complexGO:03089310.2SMC1A, SMC3
4chromosome, centromeric regionGO:00077510.1SMC3, SMC1A, RAD21, STAG2
5chromosomeGO:00569410.0STAG2, RAD21, SMC1A, SMC3
6chromatinGO:00078510.0STAG2, MAU2, ESCO2, SMC3
7cohesin complexGO:0082789.9RAD21, SMC3
8nucleoplasmGO:0056549.5NIPBL, STAG2, DDX11, MAU2, RAD21, ESCO2
9nucleusGO:0056348.9NIPBL, STAG2, DDX11, HDAC8, SHOX2, MAU2

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet