BDLS
MCID: CRN015
MIFTS: 52

Cornelia De Lange Syndrome (BDLS) malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Cornelia De Lange Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 Oocyte meiosis and RB in Cancer. Affiliated tissues include bone, brain and kidney, and related mouse phenotypes are cellular and craniofacial.

Disease Ontology:9 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:66 Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at... more...

Description from OMIM:48 122470

GeneReviews summary for cdls

Aliases & Classifications for Cornelia De Lange Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 36MeSH, 63UMLS, 48OMIM, 59SNOMED-CT, 41NCIt
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Classifications:



Aliases & Descriptions:

cornelia de lange syndrome 9 20 44 21 22 11 46
de lange syndrome 9 20 44 23 22
cdls 20 44 22
brachmann de lange syndrome 9 44
brachmann-de lange syndrome 20 22
bdls 20 22
typus degenerativus amstelodamensis 44


External Ids:

Disease Ontology9 DOID:11725
SNOMED-CT59 40354009
OMIM48 122470
NCIt41 C75016

Related Diseases for Cornelia De Lange Syndrome

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18GeneCards, 19GeneDecks
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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 top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1cornelia de lange syndrome 131.3NIPBL
2cornelia de lange syndrome 210.7
3cornelia de lange syndrome 510.7
4smc3-related cornelia de lange syndrome10.6
5coats disease10.5
6congenital diaphragmatic hernia10.5
7germinoma10.5
8ring chromosome 310.5
9mental retardation10.5
10nipbl-related cornelia de lange syndrome10.5
11smc1a-related cornelia de lange syndrome10.5
12rad21-related cornelia de lange syndrome10.5
13hdac8-related cornelia de lange syndrome10.5
14cornelia de lange syndrome 410.5
15cornelia de lange syndrome 310.5
16panhypopituitarism10.4
17microcephaly10.4
18aniridia10.4
19silver-russell syndrome10.4
20metatarsus adductus10.4
21ulnar hemimelia10.4
22rosacea10.4
23meningocele10.4
24barrett's esophagus10.4
25cleft palate10.4
26intestinal volvulus10.4
27double outlet right ventricle10.4
28ulcerative colitis10.4
29hypertrophic cardiomyopathy10.4
30imperforate anus10.4
31duodenitis10.4
32adenocarcinoma10.4
33aortic valve disease10.4
34autism spectrum disorder10.4
35cervicitis10.4
36congenital heart disease10.4
37duodenal obstruction10.4
38dystonia10.4
39hypertrichosis10.4
40influenza10.4
41kidney disease10.4
42otitis media10.4
43respiratory failure10.4
44thrombocytopenia10.4
45turner syndrome10.4
46dwarfism10.4
47annular pancreas10.4
48aortopulmonary window10.4
49cerebellar hypoplasia10.4
50chromosome 13q deletion10.4

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



Diseases related to cornelia de lange syndrome

Symptoms for Cornelia De Lange Syndrome

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48OMIM
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Clinical features from OMIM:

122470

Drugs & Therapeutics for Cornelia De Lange Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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21GeneTests, 23GTR
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Genetic tests related to Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome21 SMC3
2 De Lange Syndrome23

Anatomical Context for Cornelia De Lange Syndrome

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34MalaCards
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MalaCards organs/tissues related to Cornelia De Lange Syndrome:

34
Bone, Brain, Kidney, Heart, Liver, Testes, Pancreas

Animal Models for Cornelia De Lange Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5NIPBL, SMC3, SMC1A, HDAC8
2MP:00053828.4HDAC8, SMC3, GSC, NIPBL
3MP:00053908.3HDAC8, SMC3, GSC, NIPBL
4MP:00053878.0SMC1A, SMC3, RAD21, NIPBL
5MP:00107687.2NIPBL, RAD21, GSC, SMC3, SMC1A, HDAC8

Publications for Cornelia De Lange Syndrome

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53PubMed
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Articles related to Cornelia De Lange Syndrome:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. (23551878)
2013
2
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
3
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. (23254390)
2013
4
Aesthetic and functional management of a patient with Cornelia de Lange syndrome. (22629076)
2012
5
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (23304577)
2012
6
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. (22106055)
2012
7
Cornelia de Lange syndrome - characteristics and laparoscopic treatment modalities of reflux based on own material. (23255978)
2011
8
Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. (21338332)
2011
9
Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome. (21508673)
2011
10
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. (22039349)
2011
11
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype. (21848013)
2011
12
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. (20635401)
2010
13
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
14
Bilateral split feet: a new finding in Cornelia de Lange syndrome. (20681223)
2010
15
Cornelia de Lange syndrome associated with thoracic meningocele. (20375878)
2010
16
Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. (21165303)
2010
17
Aberrant course of the umbilical vein in a newborn with Cornelia de Lange syndrome. (19238371)
2009
18
Caecal volvulus in cornelia de Lange syndrome: is its' prevention possible? (22530766)
2009
19
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
20
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. (19242925)
2009
21
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. (19522789)
2009
22
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. (19690971)
2009
23
Granulomatous rosacea in Cornelia de Lange syndrome. (19172039)
2009
24
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. (17413424)
2007
25
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. (17221863)
2007
26
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. (17106445)
2007
27
A Korean case of Cornelia de Lange syndrome. (15988935)
2005
28
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. (16100726)
2005
29
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. (16075459)
2005
30
Isolated persistent fifth aortic arch in a patient with Cornelia de Lange syndrome. (15565268)
2005
31
NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder. (15373324)
2004
32
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (15146186)
2004
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
Anaesthetic implications of Cornelia de Lange syndrome. (9549750)
1998
37
Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report. (9264220)
1997
38
Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. (9089461)
1997
39
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. (8291523)
1993
40
Cornelia de Lange syndrome with ring chromosome 3. (2359108)
1990
41
Hearing levels in the Cornelia de Lange syndrome. A report of seven cases. (2807752)
1989
42
Congenital hearing loss in patients with Cornelia de Lange syndrome (a report of two cases). (3323381)
1987
43
Cornelia de Lange syndrome in a mother and daughter. (4042398)
1985
44
Normal intelligence in the Cornelia de Lange syndrome. (7057621)
1982
45
Chromosome banding study of the Cornelia De Lange syndrome. (598831)
1977
46
Cornelia de Lange syndrome: report of a case. (915394)
1977
47
Cornelia de Lange syndrome. (1276054)
1976
48
Self-mutilative behavior in the Cornelia de Lange syndrome. (5148360)
1971
49
Cornelia de Lange syndrome: evolution of the phenotype. (5121247)
1971
50
The Cornelia de Lange syndrome. Typus degenerativus Amstelodamensis. Histologic studies of the marginal gingiva. (4099522)
1970

Variations for Cornelia De Lange Syndrome

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Expression for genes affiliated with Cornelia De Lange Syndrome

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 5Cell Signaling Technology, 56Reactome, 61Thomson Reuters, 54QIAGEN, 13EMD Millipore
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Pathways related to Cornelia De Lange Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6SMC3, SMC1A
29.6SMC3, SMC1A
38.8SMC1A, SMC3, RAD21
4
Show member pathways
8.8RAD21, SMC3, SMC1A
5
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.8SMC1A, SMC3, RAD21
6
Show member pathways
8.8RAD21, SMC3, SMC1A
78.8RAD21, SMC3, SMC1A
8
Show member pathways
8.3NIPBL, RAD21, SMC3, SMC1A
9
Show member pathways
8.2RAD21, SMC3, SMC1A, HDAC8
10
Show member pathways
Cell cycle39
8.2HDAC8, SMC1A, SMC3, RAD21
11
Show member pathways
8.2HDAC8, SMC1A, SMC3, RAD21
12
Show member pathways
8.2HDAC8, SMC1A, SMC3, RAD21
13
Show member pathways
7.6HDAC8, SMC1A, SMC3, RAD21, NIPBL

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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17Gene Ontology
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Cellular components related to Cornelia De Lange Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1meiotic cohesin complexGO:0308939.6SMC3, SMC1A
2nuclear meiotic cohesin complexGO:0349919.4SMC3, RAD21
3cohesin complexGO:0082789.3RAD21, SMC3
4chromosome, centromeric regionGO:0007759.0RAD21, SMC3, SMC1A
5chromosomeGO:0056948.9RAD21, SMC3, SMC1A
6cytosolGO:0058298.2RAD21, SMC3, SMC1A, HDAC8
7nucleoplasmGO:0056548.0SMC1A, SMC3, RAD21, NIPBL
8nucleusGO:0056347.0HDAC8, SMC1A, SMC3, GSC, RAD21, NIPBL

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of DNA endoreduplicationGO:0328769.7SMC1A, SMC3
2mitotic spindle organizationGO:0070529.6SMC3, SMC1A
3mitotic sister chromatid cohesionGO:0070649.6NIPBL, SMC1A
4meiotic nuclear divisionGO:0071269.5SMC1A, SMC3
5stem cell maintenanceGO:0198279.2NIPBL, SMC3, SMC1A
6DNA recombinationGO:0063109.2RAD21, SMC1A
7sister chromatid cohesionGO:0070629.2HDAC8, SMC1A, SMC3
8negative regulation of transcription from RNA polymerase II promoterGO:0001228.5NIPBL, GSC, HDAC8
9mitotic cell cycleGO:0002787.8NIPBL, RAD21, SMC3, SMC1A, HDAC8

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:0037779.6SMC3, SMC1A
2mediator complex bindingGO:0360339.0NIPBL, SMC3, SMC1A
3chromatin bindingGO:0036828.8NIPBL, SMC3, SMC1A

Products for genes affiliated with Cornelia De Lange Syndrome

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Sources for Cornelia De Lange Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
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41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet