MCID: CRN015
MIFTS: 57

Cornelia De Lange Syndrome malady

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

Summaries for Cornelia De Lange Syndrome

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NIH Rare Diseases:41 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. cornelia de lange syndrome 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 in the smc1a gene and occur in people with no history of the condition in their family. last updated: 1/15/2015

MalaCards based summary: Cornelia De Lange Syndrome, also known as de lange syndrome, is related to cornelia de lange syndrome 1 and turner syndrome, and has symptoms including thin vermilion border, microcephaly and low anterior hairline. An important gene associated with Cornelia De Lange Syndrome is SMC1A (structural maintenance of chromosomes 1A), and among its related pathways are Cell cycle Spindle assembly and chromosome separation and Chromatin Regulation / Acetylation. Affiliated tissues include bone, kidney and testes, and related mouse phenotypes are skeleton and growth/size/body.

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.

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...

GeneReviews summary for cdls

Aliases & Classifications for Cornelia De Lange Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 55SNOMED-CT, 38NCIt, 33MeSH, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cornelia De Lange Syndrome, Aliases & Descriptions:

Name: Cornelia De Lange Syndrome 9 19 41 20 21 11 43 47
De Lange Syndrome 9 19 41 21 22
Brachmann-De Lange Syndrome 19 41 21 47
Cdls 19 41 21
 
Brachmann De Lange Syndrome 9 41
Bdls 19 21
Typus Degenerativus Amstelodamensis 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
cornelia de lange syndrome:
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:11725
NCIt38 C75016
Orphanet47 199
SNOMED-CT55 40354009
MESH via Orphanet34 D003635
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C0270972

Related Diseases for Cornelia De Lange Syndrome

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Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 4
Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 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

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1cornelia de lange syndrome 131.9NIPBL
2turner syndrome30.9SHOX2
3cornelia de lange syndrome 510.8
4cornelia de lange syndrome 210.8
5cornelia de lange syndrome 410.8
6cornelia de lange syndrome 310.8
7nipbl-related cornelia de lange syndrome10.6
8smc1a-related cornelia de lange syndrome10.6
9smc3-related cornelia de lange syndrome10.6
10rad21-related cornelia de lange syndrome10.6
11hdac8-related cornelia de lange syndrome10.6
12gastroesophageal reflux10.5
13coats disease10.5
14germinoma10.5
15congenital diaphragmatic hernia10.5
16cervicitis10.5
17ring chromosome 310.5
18mental retardation10.5
19silver-russell syndrome10.4
20aniridia10.4
21microcephaly10.4
22metatarsus adductus10.4
23ulnar hemimelia10.4
24sacrococcygeal teratoma10.4
25thrombocytopenia10.4
26ulcerative colitis10.4
27rosacea10.4
28meningocele10.4
29intestinal volvulus10.4
30hypertrophic cardiomyopathy10.4
31imperforate anus10.4
32duodenitis10.4
33choroiditis10.4
34adenocarcinoma10.4
35autism spectrum disorder10.4
36colitis10.4
37congenital heart disease10.4
38duodenal obstruction10.4
39dystonia10.4
40hypertrichosis10.4
41influenza10.4
42kidney disease10.4
43otitis media10.4
44papilloma10.4
45respiratory failure10.4
46dwarfism10.4
47annular pancreas10.4
48aortopulmonary window10.4
49cerebellar hypoplasia10.4
50granulomatous rosacea10.4

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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Symptoms:

 47 (show all 95)
  • microcephaly
  • brachycephaly/flat occiput
  • low hair line-front
  • micrognathia/retrognathia/micrognathism/retrognathism
  • thick/bushy eyebrows
  • synophris/synophrys
  • high arched eyebrows
  • long/thick/curved lashes/trichomegaly/polytrichia
  • short/small nose
  • depressed nasal bridge
  • anteverted nares/nostrils
  • thin/retracted lips
  • downturned mouth
  • long philtrum
  • high vaulted/narrow palate
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • external auditory canal atresia/stenosis/agenesis
  • short neck
  • short limbs/micromelia/brachymelia
  • small hand/acromicria
  • metacarpal anomalies/archibald's sign
  • proximally set thumb
  • short foot/brachydactyly of toes
  • syndactyly of toes
  • hirsutism/hypertrichosis/increased body hair
  • low hair line (back)
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • abnormal cry/voice/phonation disorder/nasal speech
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • short stature/dwarfism/nanism
  • microcornea
  • myopia
  • ptosis
  • blepharitis/eyelid inflammation
  • anodontia/oligodontia/hypodontia
  • low set ears/posteriorly rotated ears
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • hypoplastic/absent nipples
  • radioulnar synostosis
  • simian crease/transverse/unique palmar crease
  • clinodactyly of fifth finger
  • cutis marmorata/marbled skin/livedo
  • multicystic kidney/renal dysplasia
  • vesicorenal/vesicoureteral reflux
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sleep and vigilance disorders
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hyperactivity/attention deficit
  • obsessive-compulsive disorder
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • restricted joint mobility/joint stiffness/ankylosis
  • elbow dislocation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • prematurity
  • glaucoma
  • cataract/lens opacification
  • strabismus/squint
  • nystagmus
  • choanal atresia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • long/large ear
  • pectus excavatum
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • oligodactyly/ectrodactyly of fingers
  • talipes-varus/metatarsal varus
  • gastric/pyloric stenosis
  • colonic/intestinal volvulus
  • intestinal/gut/bowel malrotation
  • diaphragmatic hernia/defect/agenesis
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • renal failure
  • uterine/uterus/fallopian tubes anomalies
  • late puberty/hypogonadism/hypogenitalism
  • primary amenorrhea
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • peripheral neuropathy
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autism/autistic disoders
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • truncal obesity
  • increased nuchal translucency
  • fetal immobility/abnormal fetal movements

HPO human phenotypes related to Cornelia De Lange Syndrome:

(show all 85)
id Description Frequency HPO Source Accession
1 thin vermilion border hallmark (90%) HP:0000233
2 microcephaly hallmark (90%) HP:0000252
3 low anterior hairline hallmark (90%) HP:0000294
4 long philtrum hallmark (90%) HP:0000343
5 micrognathia hallmark (90%) HP:0000347
6 atresia of the external auditory canal hallmark (90%) HP:0000413
7 anteverted nares hallmark (90%) HP:0000463
8 short neck hallmark (90%) HP:0000470
9 abnormality of the eyelashes hallmark (90%) HP:0000499
10 thick eyebrow hallmark (90%) HP:0000574
11 synophrys hallmark (90%) HP:0000664
12 delayed eruption of teeth hallmark (90%) HP:0000684
13 abnormality of the metacarpal bones hallmark (90%) HP:0001163
14 hypertonia hallmark (90%) HP:0001276
15 abnormality of the voice hallmark (90%) HP:0001608
16 toe syndactyly hallmark (90%) HP:0001770
17 short toe hallmark (90%) HP:0001831
18 low posterior hairline hallmark (90%) HP:0002162
19 highly arched eyebrow hallmark (90%) HP:0002553
20 abnormality of calvarial morphology hallmark (90%) HP:0002648
21 downturned corners of mouth hallmark (90%) HP:0002714
22 delayed skeletal maturation hallmark (90%) HP:0002750
23 micromelia hallmark (90%) HP:0002983
24 short nose hallmark (90%) HP:0003196
25 short palm hallmark (90%) HP:0004279
26 short stature hallmark (90%) HP:0004322
27 depressed nasal bridge hallmark (90%) HP:0005280
28 proximal placement of thumb hallmark (90%) HP:0009623
29 cognitive impairment hallmark (90%) HP:0100543
30 multicystic kidney dysplasia typical (50%) HP:0000003
31 cryptorchidism typical (50%) HP:0000028
32 abnormality of female external genitalia typical (50%) HP:0000055
33 vesicoureteral reflux typical (50%) HP:0000076
34 low-set, posteriorly rotated ears typical (50%) HP:0000368
35 conductive hearing impairment typical (50%) HP:0000405
36 sensorineural hearing impairment typical (50%) HP:0000407
37 microcornea typical (50%) HP:0000482
38 blepharitis typical (50%) HP:0000498
39 ptosis typical (50%) HP:0000508
40 myopia typical (50%) HP:0000545
41 obsessive-compulsive behavior typical (50%) HP:0000722
42 single transverse palmar crease typical (50%) HP:0000954
43 cutis marmorata typical (50%) HP:0000965
44 limitation of joint mobility typical (50%) HP:0001376
45 intrauterine growth retardation typical (50%) HP:0001511
46 premature birth typical (50%) HP:0001622
47 neurological speech impairment typical (50%) HP:0002167
48 sleep disturbance typical (50%) HP:0002360
49 radioulnar synostosis typical (50%) HP:0002974
50 elbow dislocation typical (50%) HP:0003042
51 clinodactyly of the 5th finger typical (50%) HP:0004209
52 aplasia/hypoplasia of the nipples typical (50%) HP:0006709
53 attention deficit hyperactivity disorder typical (50%) HP:0007018
54 hypoplasia of penis typical (50%) HP:0008736
55 reduced number of teeth typical (50%) HP:0009804
56 displacement of the external urethral meatus typical (50%) HP:0100627
57 renal insufficiency occasional (7.5%) HP:0000083
58 cleft palate occasional (7.5%) HP:0000175
59 macrotia occasional (7.5%) HP:0000400
60 choanal atresia occasional (7.5%) HP:0000453
61 strabismus occasional (7.5%) HP:0000486
62 glaucoma occasional (7.5%) HP:0000501
63 cataract occasional (7.5%) HP:0000518
64 nystagmus occasional (7.5%) HP:0000639
65 autism occasional (7.5%) HP:0000717
66 pectus excavatum occasional (7.5%) HP:0000767
67 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
68 primary amenorrhea occasional (7.5%) HP:0000786
69 split hand occasional (7.5%) HP:0001171
70 seizures occasional (7.5%) HP:0001250
71 muscular hypotonia occasional (7.5%) HP:0001252
72 prenatal movement abnormality occasional (7.5%) HP:0001557
73 ventricular septal defect occasional (7.5%) HP:0001629
74 defect in the atrial septum occasional (7.5%) HP:0001631
75 talipes occasional (7.5%) HP:0001883
76 truncal obesity occasional (7.5%) HP:0001956
77 pyloric stenosis occasional (7.5%) HP:0002021
78 ventriculomegaly occasional (7.5%) HP:0002119
79 cerebral cortical atrophy occasional (7.5%) HP:0002120
80 intestinal malrotation occasional (7.5%) HP:0002566
81 volvulus occasional (7.5%) HP:0002580
82 abnormality of the hip bone occasional (7.5%) HP:0003272
83 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
84 peripheral neuropathy occasional (7.5%) HP:0009830
85 increased nuchal translucency occasional (7.5%) HP:0010880

Drugs & Therapeutics for Cornelia De Lange Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cornelia De Lange Syndrome

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:

31
Bone, Kidney, Testes, Cerebellum, Eye, Colon, Skin, Uterus, Brain, Heart, Liver, Pancreas

Animal Models for Cornelia De Lange Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4HDAC8, SMC3, SHOX2, SOX2, GSC, NIPBL
2MP:00053788.2NIPBL, GSC, SOX2, SHOX2, SMC3, HDAC8
3MP:00053828.0NIPBL, HDAC8, SMC3, SHOX2, SOX2, ESCO2
4MP:00053808.0HDAC8, MRE11A, SOX2, ESCO2, GSC
5MP:00053857.9HDAC8, MRE11A, SHOX2, CLCN2, GSC, NIPBL
6MP:00053897.8MRE11A, SMC3, SOX2, CLCN2, RAD21
7MP:00053977.8MRE11A, THPO, SMC1A, SMC3, CLCN2, RAD21
8MP:00053847.7HDAC8, MRE11A, SMC1A, SMC3, SOX2, ESCO2
9MP:00036317.6HDAC8, MRE11A, SOX2, CLCN2, ESCO2, GSC
10MP:00053877.2MRE11A, THPO, SMC1A, SMC3, SOX2, CLCN2
11MP:00107686.6HDAC8, MRE11A, SMC1A, SMC3, SHOX2, SOX2

Publications for Cornelia De Lange Syndrome

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Articles related to Cornelia De Lange Syndrome:

(show top 50)    (show all 304)
idTitleAuthorsYear
1
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium. (25899772)
2015
2
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. (25447906)
2015
3
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes. (25655089)
2015
4
Cornelia de Lange syndrome. (25209348)
2014
5
Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome. (24587603)
2014
6
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. (25102094)
2014
7
Cervical spine malformation in cornelia de lange syndrome: a report of three patients. (24668777)
2014
8
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. (25075551)
2014
9
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. (23551878)
2013
10
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
11
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. (23254390)
2013
12
Aesthetic and functional management of a patient with Cornelia de Lange syndrome. (22629076)
2012
13
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. (23304577)
2012
14
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. (22106055)
2012
15
Cornelia de Lange syndrome - characteristics and laparoscopic treatment modalities of reflux based on own material. (23255978)
2011
16
Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. (21338332)
2011
17
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
18
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. (22039349)
2011
19
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype. (21848013)
2011
20
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. (20635401)
2010
21
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
22
Bilateral split feet: a new finding in Cornelia de Lange syndrome. (20681223)
2010
23
Cornelia de Lange syndrome associated with thoracic meningocele. (20375878)
2010
24
Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. (21165303)
2010
25
Aberrant course of the umbilical vein in a newborn with Cornelia de Lange syndrome. (19238371)
2009
26
Caecal volvulus in cornelia de Lange syndrome: is its' prevention possible? (22530766)
2009
27
Coats' disease, megalopapilla and Cornelia de Lange syndrome. (19373684)
2009
28
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. (19242925)
2009
29
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. (19690971)
2009
30
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. (17413424)
2007
31
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. (17221863)
2007
32
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. (17106445)
2007
33
A Korean case of Cornelia de Lange syndrome. (15988935)
2005
34
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. (16100726)
2005
35
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
36
NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder. (15373324)
2004
37
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (15146186)
2004
38
Cornelia de Lange syndrome: discordance in twins. (10745373)
1999
39
Anaesthetic implications of Cornelia de Lange syndrome. (9549750)
1998
40
Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report. (9264220)
1997
41
Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. (9089461)
1997
42
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. (8291523)
1993
43
Hearing levels in the Cornelia de Lange syndrome. A report of seven cases. (2807752)
1989
44
Congenital hearing loss in patients with Cornelia de Lange syndrome (a report of two cases). (3323381)
1987
45
Cornelia de Lange syndrome in a mother and daughter. (4042398)
1985
46
Normal intelligence in the Cornelia de Lange syndrome. (7057621)
1982
47
Chromosome banding study of the Cornelia De Lange syndrome. (598831)
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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Clinvar genetic disease variations for Cornelia De Lange Syndrome:

6 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1SMC1ASMC1A, 3-BP DEL, 2493CCAdeletionPathogenic
2SMC1ANM_006306.3(SMC1A): c.1478A> C (p.Glu493Ala)single nucleotide variantPathogenicrs122454122GRCh37Chr X, 53436060: 53436060
3SMC1ASMC1A, 15-BP DEL, NT173deletionPathogenic
4SMC1ANM_006306.3(SMC1A): c.1487G> A (p.Arg496His)single nucleotide variantPathogenicrs122454123GRCh37Chr X, 53436051: 53436051
5NIPBLNM_015384.4(NIPBL): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs121918264GRCh37Chr 5, 36953800: 36953800
6NIPBLNM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys)single nucleotide variantPathogenicrs121918265GRCh37Chr 5, 37057313: 37057313
7NIPBLNIPBL, 1-BP DEL, 150GdeletionPathogenic
8NIPBLNIPBL, 1-BP INS, 7306GinsertionPathogenic
9NIPBLNIPBL, 1-BP INS, 1546GinsertionPathogenic
10NIPBLNM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del)deletionPathogenicrs121918266GRCh37Chr 5, 37001132: 37001134
11NIPBLNIPBL, 2-BP DEL, 2479AGdeletionPathogenic
12NIPBLNM_015384.4(NIPBL): c.5167C> T (p.Arg1723Ter)single nucleotide variantPathogenicrs121918267GRCh37Chr 5, 37020717: 37020717
13NIPBLNM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly)single nucleotide variantPathogenicrs121918268GRCh37Chr 5, 37002836: 37002836
14NIPBLNIPBL, IVS45AS, G-C, -1single nucleotide variantPathogenic
15NIPBLNIPBL, IVS44DS, A-G, +4single nucleotide variantPathogenic
16NIPBLNM_015384.4(NIPBL): c.4606C> T (p.Arg1536Ter)single nucleotide variantPathogenicrs121918269GRCh37Chr 5, 37014830: 37014830
17NIPBLNIPBL, 2-BP DEL/1-BP INSindelPathogenic
18SMC1ANM_006306.3(SMC1A): c.2351T> C (p.Ile784Thr)single nucleotide variantPathogenicrs387906702GRCh37Chr X, 53430567: 53430567
19SMC1ASMC1A, 8.152-KB DELdeletionPathogenic
20RAD21NM_006265.2(RAD21): c.1127C> G (p.Pro376Arg)single nucleotide variantPathogenicrs387907212GRCh37Chr 8, 117866518: 117866518
21RAD21NM_006265.2(RAD21): c.1753T> C (p.Cys585Arg)single nucleotide variantPathogenicrs387907213GRCh37Chr 8, 117859882: 117859882
22HDAC8NM_018486.2(HDAC8): c.490C> T (p.Arg164Ter)single nucleotide variantPathogenicrs397515415GRCh37Chr X, 71715066: 71715066
23HDAC8NM_018486.2(HDAC8): c.539A> G (p.His180Arg)single nucleotide variantPathogenicrs397515416GRCh37Chr X, 71715017: 71715017
24HDAC8NM_018486.2(HDAC8): c.932C> T (p.Thr311Met)single nucleotide variantPathogenicrs397515417GRCh37Chr X, 71681927: 71681927
25HDAC8NM_018486.2(HDAC8): c.958G> A (p.Gly320Arg)single nucleotide variantPathogenicrs398122909GRCh37Chr X, 71681901: 71681901
26HDAC8NM_018486.2(HDAC8): c.1001A> G (p.His334Arg)single nucleotide variantPathogenicrs397515418GRCh37Chr X, 71681858: 71681858
27SMC3SMC3, 3-BP DEL, 1464AGAdeletionPathogenic
28HDAC8NM_018486.2(HDAC8): c.356C> T (p.Thr119Met)single nucleotide variantPathogenicGRCh37Chr X, 71787820: 71787820
29NIPBLNM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter)single nucleotide variantPathogenicrs80358362GRCh37Chr 5, 37022358: 37022358
30NIPBLNM_015384.4(NIPBL): c.133C> T (p.Arg45Ter)single nucleotide variantPathogenicrs80358367GRCh37Chr 5, 36955642: 36955642
31NIPBLNM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs)deletionPathogenicrs80358382GRCh37Chr 5, 36976454: 36976457
32NIPBLNM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs)deletionPathogenicrs80358364GRCh37Chr 5, 36955701: 36955701
33NIPBLNM_015384.4(NIPBL): c.2592T> A (p.Asp864Glu)single nucleotide variantPathogenicrs80358365GRCh37Chr 5, 36985874: 36985874
34NIPBLNM_015384.4(NIPBL): c.3445C> T (p.Arg1149Ter)single nucleotide variantPathogenicrs80358374GRCh37Chr 5, 37000615: 37000615
35NIPBLNM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs)deletionPathogenicrs80358386GRCh37Chr 5, 37008155: 37008164
36NIPBLNM_015384.4(NIPBL): c.4511T> A (p.Leu1504Ter)single nucleotide variantPathogenicrs80358369GRCh37Chr 5, 37010278: 37010278
37NIPBLNM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs)deletionPathogenicrs80358372GRCh37Chr 5, 37017150: 37017151
38NIPBLNM_015384.4(NIPBL): c.5366G> A (p.Arg1789Gln)single nucleotide variantPathogenicrs80358380GRCh37Chr 5, 37022190: 37022190
39NIPBLNM_015384.4(NIPBL): c.5456G> A (p.Arg1819Gln)single nucleotide variantPathogenicrs80358366GRCh37Chr 5, 37022374: 37022374
40NIPBLNM_015384.4(NIPBL): c.5566A> G (p.Arg1856Gly)single nucleotide variantPathogenicrs80358373GRCh37Chr 5, 37022484: 37022484
41NIPBLNM_015384.4(NIPBL): c.585C> G (p.Tyr195Ter)single nucleotide variantPathogenicrs80358360GRCh37Chr 5, 36962351: 36962351
42NIPBLNM_015384.4(NIPBL): c.6631G> T (p.Glu2211Ter)single nucleotide variantPathogenicrs80358363GRCh37Chr 5, 37048645: 37048645
43NIPBLNM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs)deletionPathogenicrs80358361GRCh37Chr 5, 37048655: 37048661
44NIPBLNM_015384.4(NIPBL): c.6892C> G (p.Arg2298Gly)single nucleotide variantPathogenicrs80358376GRCh37Chr 5, 37049341: 37049341
45NIPBLNM_015384.4(NIPBL): c.7301A> G (p.Asn2434Ser)single nucleotide variantPathogenicrs80358384GRCh37Chr 5, 37057325: 37057325
46NIPBLNM_015384.4(NIPBL): c.7327C> T (p.Gln2443Ter)single nucleotide variantPathogenicrs80358370GRCh37Chr 5, 37057351: 37057351
47NIPBLNM_015384.4(NIPBL): c.7789delC (p.Leu2597Cysfs)deletionPathogenicrs80358368GRCh37Chr 5, 37061049: 37061049
48NIPBLNM_015384.4(NIPBL): c.7806dupT (p.Asn2603Terfs)duplicationPathogenicrs80358371GRCh37Chr 5, 37061066: 37061067

Expression for genes affiliated with Cornelia De Lange Syndrome

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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 Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SMC1A, SMC3, RAD21
29.6SMC1A, SMC3, RAD21
3
Show member pathways
9.4MRE11A, HDAC8
4
Show member pathways
9.3NIPBL, RAD21, SMC3, SMC1A
5
Show member pathways
9.3HDAC8, SMC1A, SMC3, RAD21
6
Show member pathways
Cell cycle36
9.3HDAC8, SMC1A, SMC3, RAD21
7
Show member pathways
9.3RAD21, SMC3, SMC1A, HDAC8
8
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
9.2RAD21, ESCO2, SMC3, SMC1A
9
Show member pathways
8.8RAD21, SMC3, SMC1A, MRE11A
10
Show member pathways
8.6HDAC8, SMC1A, SMC3, ESCO2, RAD21, NIPBL
11
Show member pathways
8.5HDAC8, MRE11A, SMC1A, SMC3, RAD21

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1meiotic cohesin complexGO:003089310.0SMC1A, SMC3
2nuclear meiotic cohesin complexGO:003499110.0SMC3, RAD21
3cohesin complexGO:00082789.9RAD21, SMC3
4chromosome, centromeric regionGO:00007759.8RAD21, SMC3, SMC1A
5chromatinGO:00007859.7ESCO2, SMC3
6chromosomeGO:00056949.6SMC3, RAD21, SMC1A
7nucleoplasmGO:00056548.3ESCO2, RAD21, SMC3, SMC1A, MRE11A, NIPBL
8nucleolusGO:00057308.0SMC1A, SMC3, SOX2, RAD21, MRE11A
9cytosolGO:00058297.9HDAC8, MRE11A, SMC1A, SMC3, RAD21, SOX2
10nucleusGO:00056346.6SHOX2, MRE11A, SMC1A, SMC3, SOX2, ESCO2

Biological processes related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1mitotic sister chromatid cohesionGO:000706410.2NIPBL, SMC1A
2mitotic spindle organizationGO:000705210.1SMC1A, SMC3
3regulation of DNA replicationGO:000627510.0ESCO2, SMC3
4meiotic nuclear divisionGO:00071269.9SMC1A, SMC3
5stem cell maintenanceGO:00198279.9NIPBL, SMC3, SMC1A
6embryonic digestive tract morphogenesisGO:00485579.9NIPBL, SHOX2
7embryonic forelimb morphogenesisGO:00351159.8SHOX2, NIPBL
8forebrain developmentGO:00309009.5GSC, SOX2
9reciprocal meiotic recombinationGO:00071319.5MRE11A, RAD21
10negative regulation of DNA endoreduplicationGO:00328769.4MRE11A, SMC1A, SMC3
11DNA recombinationGO:00063109.4MRE11A, SMC1A, RAD21
12double-strand break repairGO:00063029.4RAD21, MRE11A
13DNA repairGO:00062819.1SMC3, SMC1A, MRE11A
14osteoblast differentiationGO:00016499.1SOX2, SHOX2
15sister chromatid cohesionGO:00070629.1SMC3, SMC1A, MRE11A, HDAC8
16mitotic cell cycleGO:00002788.9HDAC8, SMC1A, SMC3, ESCO2, RAD21, NIPBL
17negative regulation of transcription from RNA polymerase II promoterGO:00001228.8HDAC8, SHOX2, SOX2, GSC, NIPBL

Molecular functions related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00037779.9SMC3, SMC1A
2mediator complex bindingGO:00360339.6NIPBL, SMC3, SMC1A
3transcription regulatory region sequence-specific DNA bindingGO:00009769.1SOX2, SHOX2
4chromatin bindingGO:00036829.0SMC1A, SMC3, SOX2, NIPBL

Products for genes affiliated with Cornelia De Lange Syndrome

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  • Antibodies
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  • Kits and Assays

Sources for Cornelia De Lange Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet