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:

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Drug clinical trials:

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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:00053829.6GSC, SOX2, NIPBL, HDAC8, SHOX2, CHRD
3MP:00053909.5SOX2, NIPBL, HDAC8, SHOX2, CHRD, PAPPA
4MP:00053809.5SOX2, DDX11, HDAC8, CHRD, LEFTY2, ESCO2
5MP:00053859.4NIPBL, DDX11, HDAC8, SHOX2, CHRD, CLCN2
6MP:00036319.3SOX2, NIPBL, DDX11, HDAC8, CHRD, CLCN2
7MP:00053819.3SOX2, SHOX2, CHRD, CLCN2, LEFTY2, GSC
8MP:00053789.2SOX2, NIPBL, DDX11, HDAC8, SHOX2, CHRD
9MP:00053849.2SOX2, NIPBL, DDX11, HDAC8, CHRD, RAD21
10MP:00107689.0SOX2, NIPBL, DDX11, HDAC8, SHOX2, CHRD

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
High rate of mosaicism in individuals with Cornelia de Lange syndrome. (23505322)
2013
2
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. (24218399)
2013
3
Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. (22490014)
2012
4
Difficult tracheal intubation in a child with Cornelia de Lange syndrome using a paediatric Intlock installed in a Pentax Airway Scope. (23130739)
2012
5
Cornelia de lange syndrome: a case report of a brazilian boy. (20536372)
2011
6
Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11). (21666440)
2011
7
A case of third trimester diagnosis of Cornelia de Lange syndrome. (19908052)
2011
8
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (20358602)
2010
9
Cornelia de Lange syndrome associated with thoracic meningocele. (20375878)
2010
10
Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. (21165303)
2010
11
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. (20727427)
2010
12
Caecal volvulus in cornelia de Lange syndrome: is its' prevention possible? (22530766)
2009
13
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (18996922)
2009
14
Dental findings in Cornelia de Lange syndrome. (19430566)
2009
15
Is a difficult airway predictable in Cornelia de Lange syndrome? (19638123)
2009
16
Descriptive epidemiology of Cornelia de Lange syndrome in Europe. (18074387)
2008
17
Chromosome 13q deletion with Cornelia de Lange syndrome phenotype. (17682579)
2007
18
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. (17273969)
2007
19
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. (17508425)
2007
20
Cornelia de Lange syndrome. (17896616)
2007
21
Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. (17652350)
2007
22
Isolated persistent fifth aortic arch in a patient with Cornelia de Lange syndrome. (15565268)
2005
23
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. (15723327)
2005
24
Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome. (16353507)
2005
25
Hematometra in a patient with Cornelia De Lange syndrome. (16260572)
2005
26
Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5. (16032773)
2005
27
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. (16086407)
2005
28
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. (15146185)
2004
29
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. (15591270)
2004
30
Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. (14558036)
2003
31
Cornelia de Lange syndrome, hyperthermia and a difficult airway. (12911384)
2003
32
Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. (11975974)
2002
33
Causal explanations, concern and optimism regarding self-injurious behaviour displayed by individuals with Cornelia de Lange syndrome: the parents' perspective. (11489054)
2001
34
Cornelia de Lange syndrome associated with cecal volvulus: report of a case. (11440107)
2001
35
Cornelia de Lange syndrome: discordance in twins. (10745373)
1999
36
Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report. (9264220)
1997
37
Hearing impairment in two boys with Cornelia de Lange syndrome. (7695001)
1994
38
An unusual complication of Cornelia de Lange syndrome. (8209982)
1994
39
Cornelia de Lange syndrome with cleft palate. (3117925)
1987
40
Cornelia de Lange syndrome with intracranial germinoma. (3962671)
1986
41
Normal intelligence in the Cornelia de Lange syndrome. (7057621)
1982
42
Psychiatry/mental handicap forum 7: Cornelia de Lange syndrome: my giggling little man. (6921686)
1982
43
Gastrointestinal abnormalities in the Cornelia de Lange syndrome. (6973075)
1981
44
The association of chromosome 3 duplication and the Cornelia de Lange syndrome. (712481)
1978
45
Ocular symptoms in Cornelia de Lange syndrome. (610834)
1977
46
Cornelia de Lange syndrome in an Egyptian child. (1227551)
1975
47
Variable limb malformations in the Brachmann-Cornelia de Lange syndrome. (1218207)
1975
48
Self-mutilative behavior in the Cornelia de Lange syndrome. (5148360)
1971
49
Cornelia de Lange syndrome. (5402549)
1969
50
Skeletal changes in the Cornelia de Lange syndrome. (6023899)
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:03211610.2MAU2, 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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
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40NDF-RT
43NINDS
44Novoseek
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57SNOMED-CT via Orphanet
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