BDLS
MCID: CRN015
MIFTS: 53

Cornelia De Lange Syndrome (BDLS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Muscle diseases categories
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Summaries for Cornelia De Lange Syndrome

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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 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. 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 heart, and related mouse phenotypes are cellular 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:65 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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Cornelia De Lange Syndrome, Aliases & Descriptions:

Name: 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


Classifications:



External Ids:

Disease Ontology8 DOID:11725
NCIt39 C75016
SNOMED-CT57 40354009
OMIM46 122470

Related Diseases for Cornelia De Lange Syndrome

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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 64)
idRelated DiseaseScoreTop Affiliating Genes
1cornelia de lange syndrome 131.6NIPBL
2cornelia de lange syndrome 210.7
3cornelia de lange syndrome 510.7
4cornelia de lange syndrome 410.6
5cornelia de lange syndrome 310.6
6coats disease10.5
7germinoma10.5
8congenital diaphragmatic hernia10.5
9cervicitis10.5
10ring chromosome 310.5
11mental retardation10.5
12nipbl-related cornelia de lange syndrome10.5
13smc1a-related cornelia de lange syndrome10.5
14smc3-related cornelia de lange syndrome10.5
15rad21-related cornelia de lange syndrome10.5
16hdac8-related cornelia de lange syndrome10.5
17sacrococcygeal teratoma10.4
18thrombocytopenia10.4
19ulcerative colitis10.4
20meningocele10.4
21cleft palate10.4
22double outlet right ventricle10.4
23barrett's esophagus10.4
24hypertrophic cardiomyopathy10.4
25rosacea10.4
26intestinal volvulus10.4
27imperforate anus10.4
28duodenitis10.4
29choroiditis10.4
30adenocarcinoma10.4
31aortic valve disease10.4
32autism spectrum disorder10.4
33colitis10.4
34congenital heart disease10.4
35duodenal obstruction10.4
36dystonia10.4
37hypertrichosis10.4
38influenza10.4
39kidney disease10.4
40otitis media10.4
41papilloma10.4
42respiratory failure10.4
43turner syndrome10.4
44dwarfism10.4
45annular pancreas10.4
46aortopulmonary window10.4
47cerebellar hypoplasia10.4
48chromosome 13q deletion10.4
49granulomatous rosacea10.4
50horseshoe kidney10.4

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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Clinical features from OMIM:

122470

Drugs & Therapeutics for Cornelia De Lange Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Cornelia De Lange Syndrome

Genetic Tests for Cornelia De Lange Syndrome

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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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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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MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

36
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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Articles related to Cornelia De Lange Syndrome:

(show top 50)    (show all 293)
idTitleAuthorsYear
1
Cornelia de Lange syndrome. (25209348)
2014
2
Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome. (24587603)
2014
3
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. (25102094)
2014
4
Cervical spine malformation in cornelia de lange syndrome: a report of three patients. (24668777)
2014
5
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. (25075551)
2014
6
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. (23551878)
2013
7
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
8
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. (23254390)
2013
9
Aesthetic and functional management of a patient with Cornelia de Lange syndrome. (22629076)
2012
10
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (23304577)
2012
11
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. (22106055)
2012
12
Cornelia de Lange syndrome - characteristics and laparoscopic treatment modalities of reflux based on own material. (23255978)
2011
13
Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. (21338332)
2011
14
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
15
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. (22039349)
2011
16
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype. (21848013)
2011
17
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. (20635401)
2010
18
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
19
Bilateral split feet: a new finding in Cornelia de Lange syndrome. (20681223)
2010
20
Cornelia de Lange syndrome associated with thoracic meningocele. (20375878)
2010
21
Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. (21165303)
2010
22
Aberrant course of the umbilical vein in a newborn with Cornelia de Lange syndrome. (19238371)
2009
23
Caecal volvulus in cornelia de Lange syndrome: is its' prevention possible? (22530766)
2009
24
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
25
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. (19242925)
2009
26
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. (19522789)
2009
27
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. (19690971)
2009
28
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. (17413424)
2007
29
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. (17221863)
2007
30
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. (17106445)
2007
31
A Korean case of Cornelia de Lange syndrome. (15988935)
2005
32
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. (16100726)
2005
33
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
34
NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder. (15373324)
2004
35
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (15146186)
2004
36
Cornelia de Lange syndrome: discordance in twins. (10745373)
1999
37
Anaesthetic implications of Cornelia de Lange syndrome. (9549750)
1998
38
Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report. (9264220)
1997
39
Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. (9089461)
1997
40
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. (8291523)
1993
41
Cornelia de Lange syndrome with ring chromosome 3. (2359108)
1990
42
Hearing levels in the Cornelia de Lange syndrome. A report of seven cases. (2807752)
1989
43
Congenital hearing loss in patients with Cornelia de Lange syndrome (a report of two cases). (3323381)
1987
44
Cornelia de Lange syndrome in a mother and daughter. (4042398)
1985
45
Normal intelligence in the Cornelia de Lange syndrome. (7057621)
1982
46
Chromosome banding study of the Cornelia De Lange syndrome. (598831)
1977
47
Cornelia de Lange syndrome: report of a case. (915394)
1977
48
Cornelia de Lange syndrome. (1276054)
1976
49
Self-mutilative behavior in the Cornelia de Lange syndrome. (5148360)
1971
50
Cornelia de Lange syndrome: evolution of the phenotype. (5121247)
1971

Variations for Cornelia De Lange Syndrome

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Expression for genes affiliated with Cornelia De Lange Syndrome

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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

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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 Degradation37
Immune response Antigen presentation by MHC class I60
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 cycle37
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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet