BDLS
MCID: CRN015
MIFTS: 66

Cornelia De Lange Syndrome (BDLS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cornelia De Lange Syndrome

MalaCards integrated aliases for Cornelia De Lange Syndrome:

Name: Cornelia De Lange Syndrome 11 24 19 42 58 75 53 5 14 38
De Lange Syndrome 11 24 19 42 43
Brachmann-De Lange Syndrome 24 42 58
Brachmann De Lange Syndrome 11 19 5
Cdls 24 19 42
Typus Degenerativus Amstelodamensis 19 42
Bdls 24 42

Characteristics:


Inheritance:

Autosomal dominant,X-linked recessive 58

Prevelance:

1-9/100000 (Europe) 1-9/1000000 (France, Denmark) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cornelia De Lange Syndrome

MedlinePlus Genetics: 42 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.Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in people with this condition.

MalaCards based summary: Cornelia De Lange Syndrome, also known as de lange syndrome, is related to cornelia de lange syndrome 3 with or without midline brain defects and cornelia de lange syndrome 1. An important gene associated with Cornelia De Lange Syndrome is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are Cell Cycle, Mitotic and EML4 and NUDC in mitotic spindle formation. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are high palate and short neck

GARD: 19 Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 60% of people affected by CdLS have a disease-causing variation in the NIPBL gene, and about 10% of cases are caused by genetic changes in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) genetic changes and occur in people with no family history of the condition.

Orphanet: 58 A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.

Disease Ontology: 11 A syndrome 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: 75 Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of... more...

GeneReviews: NBK1104

Related Diseases for Cornelia De Lange Syndrome

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5

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

(show top 50) (show all 297)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 3 with or without midline brain defects 33.9 SMC3 SMC1A RAD21 NIPBL HDAC8
2 cornelia de lange syndrome 1 33.8 TAF6 SMC3 SMC1A RAD21 NIPBL KMT2A
3 cornelia de lange syndrome 4 with or without midline brain defects 33.8 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
4 cornelia de lange syndrome 2 33.8 SMC1A NIPBL
5 microcephaly 31.7 TAF6 STAG2 SMC1A NIPBL MRE11 KMT2A
6 hypertrichosis 31.6 SMC3 SMC1A NIPBL KMT2A
7 diaphragmatic hernia, congenital 31.5 SMC3 SMC1A NIPBL
8 trichorhinophalangeal syndrome, type ii 31.5 SMC3 SMC1A RAD21 NIPBL
9 familial isolated trichomegaly 31.5 SMC3 SMC1A RAD21 PDS5A NIPBL KMT2A
10 roberts-sc phocomelia syndrome 31.2 WAPL STAG2 SMC3 SMC1A RAD21 PDS5A
11 chromosome 16p13.3 deletion syndrome, proximal 31.2 SMC1A NIPBL KMT2A HDAC8
12 wiedemann-steiner syndrome 31.0 SMC3 SMC1A KMT2A
13 kbg syndrome 30.9 TAF6 SMC3 SMC1A RAD21 NIPBL KMT2A
14 leukemia, acute myeloid 30.6 STAG2 SMC3 SMC1A RAD21 KMT2A BRD4
15 cornelia de lange syndrome 5 12.1
16 alazami-yuan syndrome 11.4
17 autism spectrum disorder 10.8
18 gastroesophageal reflux 10.8
19 cleft palate, isolated 10.8
20 autism 10.8
21 trichomegaly 10.7
22 volvulus of midgut 10.7
23 ptosis 10.7
24 myopia 10.7
25 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
26 heart septal defect 10.6
27 lacrimal duct defect 10.6
28 down syndrome 10.6
29 sensorineural hearing loss 10.6
30 turner syndrome 10.6
31 trichorhinophalangeal syndrome, type i 10.5
32 trichorhinophalangeal syndrome 10.5
33 exostoses, multiple, type i 10.5
34 hypertelorism 10.5
35 cerebellar atrophy, developmental delay, and seizures 10.5
36 aspiration pneumonia 10.5
37 enterocele 10.5
38 blepharitis 10.5
39 eyelid disease 10.5 SMC3 SMC1A RAD21 NIPBL HDAC8
40 strabismus 10.4
41 scoliosis 10.4
42 ventricular septal defect 10.4
43 chromosome 3q duplication 10.4
44 warsaw breakage syndrome 10.4 WAPL SMC3 SMC1A RAD21 PDS5A NIPBL
45 alpha-thalassemia 10.4 SMC3 SMC1A PDS5A NIPBL ESCO2
46 chronic atrial and intestinal dysrhythmia 10.4 WAPL SMC3 SMC1A RAD21 PDS5A NIPBL
47 holoprosencephaly 10.4 STAG2 SMC3 SMC1A RAD21 CHRD
48 orofacial cleft 10.4 SMC1A SHOX2 NIPBL ESCO2 CHRD
49 congenital nervous system abnormality 10.4 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
50 accessory pancreas 10.4

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



Diseases related to Cornelia De Lange Syndrome

Symptoms & Phenotypes for Cornelia De Lange Syndrome

Human phenotypes related to Cornelia De Lange Syndrome:

58 30 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
2 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000470
3 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
4 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005280
5 widely spaced teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000687
6 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003196
7 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
8 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
9 thick eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000574
10 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
11 hypertonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001276
12 gastroesophageal reflux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002020
13 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
14 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
15 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
16 low posterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002162
17 downturned corners of mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002714
18 delayed eruption of teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000684
19 highly arched eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002553
20 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
21 low anterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000294
22 generalized hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002230
23 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
24 small hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200055
25 thin vermilion border 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000233
26 proximal placement of thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009623
27 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
28 synophrys 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000664
29 atresia of the external auditory canal 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000413
30 short foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001773
31 long eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000527
32 curly eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007665
33 short 1st metacarpal 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010034
34 abnormally low-pitched voice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010300
35 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
36 neurological speech impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002167
37 sleep disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002360
38 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
39 joint stiffness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001387
40 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
41 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
42 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
43 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
44 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
45 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
46 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
47 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000405
48 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
49 bilateral single transverse palmar creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0007598
50 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ANKRD11 BRD4 CHRD ESCO1 ESCO2 ESPL1
2 nervous system MP:0003631 10.2 ANKRD11 BRD4 CHRD ESCO2 ESPL1 HDAC8
3 embryo MP:0005380 10.15 ANKRD11 BRD4 CHRD ESCO2 ESPL1 HDAC8
4 cellular MP:0005384 10.07 CHRD ESCO1 ESCO2 ESPL1 HDAC8 KMT2A
5 craniofacial MP:0005382 10.02 ANKRD11 BRD4 CHRD HDAC8 KMT2A MAU2
6 hearing/vestibular/ear MP:0005377 9.91 ANKRD11 CDCA5 CHRD KMT2A MAU2 NIPBL
7 cardiovascular system MP:0005385 9.85 ANKRD11 BRD4 CHRD HDAC8 KMT2A MRE11
8 skeleton MP:0005390 9.65 ANKRD11 BRD4 CHRD HDAC8 KMT2A MAU2
9 mortality/aging MP:0010768 9.6 ANKRD11 BRD4 CDCA5 CHRD ESCO2 ESPL1

Drugs & Therapeutics for Cornelia De Lange Syndrome

Drugs for Cornelia De Lange Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
2
Cysteine Approved, Nutraceutical Phase 2 52-90-4 594 5862
3 Antiviral Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Expectorants Phase 2
6 Antidotes Phase 2
7 N-monoacetylcystine Phase 2
8 Pharmaceutical Solutions Phase 2
9 Respiratory System Agents Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of N-Acetylcysteine (NAC) in the Treatment of Repetitive Behaviors (RB) and Self-Injurious Behaviors (SIB) in Cornelia de Lange Syndrome: A Randomized Double-Blind Placebo-Controlled Pilot Study Not yet recruiting NCT04381897 Phase 2 N-acetyl cysteine
2 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study. Terminated NCT03113877

Search NIH Clinical Center for Cornelia De Lange Syndrome

Cochrane evidence based reviews: de lange syndrome

Genetic Tests for Cornelia De Lange Syndrome

Anatomical Context for Cornelia De Lange Syndrome

Organs/tissues related to Cornelia De Lange Syndrome:

MalaCards : Eye, Bone, Heart, Uterus, Cerebellum, Kidney, Brain

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 1088)
# Title Authors PMID Year
1
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 53 62 24 5
17661813 2007
2
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. 62 24 5
29995837 2018
3
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 62 24 5
25574841 2015
4
High rate of mosaicism in individuals with Cornelia de Lange syndrome. 62 24 5
23505322 2013
5
Germline mosaicism in Cornelia de Lange syndrome. 62 24 5
22581668 2012
6
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. 62 24 5
20583156 2010
7
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. 62 24 5
15591270 2004
8
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 62 24 5
15318302 2004
9
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 62 24 5
15146185 2004
10
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. 53 62 5
16799922 2006
11
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. 53 62 5
11391654 2001
12
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. 62 5
31337854 2019
13
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 62 5
30158690 2019
14
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. 62 5
28425213 2017
15
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. 62 5
26701315 2016
16
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. 62 5
26925417 2016
17
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 62 5
25447906 2015
18
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. 62 5
24635725 2014
19
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. 62 5
24874887 2014
20
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. 62 5
24689074 2014
21
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 62 5
24038889 2013
22
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. 62 5
24145515 2013
23
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype. 62 5
23313159 2013
24
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 62 5
23254390 2013
25
Mutation analysis in Chinese patients with Cornelia de Lange syndrome. 62 5
22857006 2012
26
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. 62 5
20824775 2010
27
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 62 5
20358602 2010
28
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. 62 5
19763162 2009
29
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 62 5
15146186 2004
30
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
31
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. 62 24
32193685 2020
32
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. 62 24
29379197 2018
33
Phenotypes and genotypes in individuals with SMC1A variants. 62 24
28548707 2017
34
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. 62 24
28166369 2017
35
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 62 24
26752331 2016
36
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 5
26938784 2016
37
Improvement in hearing loss over time in Cornelia de Lange syndrome. 62 24
27368472 2016
38
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. 62 24
27145336 2016
39
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 62 24
25652421 2016
40
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 62 24
26386245 2015
41
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. 62 24
25899772 2015
42
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 62 24
25730767 2015
43
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. 62 24
25655089 2015
44
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 62 24
25125236 2014
45
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome. 62 24
24774220 2014
46
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 62 24
24403048 2014
47
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results. 62 24
24706566 2014
48
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. 62 24
24378232 2014
49
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 62 24
24352918 2014
50
Immunologic features of Cornelia de Lange syndrome. 62 24
23821697 2013

Variations for Cornelia De Lange Syndrome

ClinVar genetic disease variations for Cornelia De Lange Syndrome:

5 (show top 50) (show all 738)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NIPBL NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) SNV Pathogenic
2140 rs121918265 GRCh37: 5:37057313-37057313
GRCh38: 5:37057211-37057211
2 NIPBL NM_133433.4(NIPBL):c.150del (p.Asn51fs) DEL Pathogenic
2141 rs1554011042 GRCh37: 5:36955659-36955659
GRCh38: 5:36955557-36955557
3 NIPBL NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) DUP Pathogenic
2142 rs1561222491 GRCh37: 5:37057329-37057330
GRCh38: 5:37057227-37057228
4 NIPBL NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) DUP Pathogenic
2143 rs1554016981 GRCh37: 5:36984824-36984825
GRCh38: 5:36984722-36984723
5 NIPBL NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) DEL Pathogenic
2144 rs121918266 GRCh37: 5:37001131-37001133
GRCh38: 5:37001029-37001031
6 NIPBL NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) SNV Pathogenic
2147 rs121918268 GRCh37: 5:37002836-37002836
GRCh38: 5:37002734-37002734
7 NIPBL NM_133433.4(NIPBL):c.7861-1G>C SNV Pathogenic
2148 rs1561231553 GRCh37: 5:37063891-37063891
GRCh38: 5:37063789-37063789
8 NIPBL NIPBL, IVS44DS, A-G, +4 SNV Pathogenic
2149 GRCh37:
GRCh38:
9 NIPBL NM_133433.4(NIPBL):c.-321_-320delinsA INDEL Pathogenic
2151 rs724159980 GRCh37: 5:36877039-36877040
GRCh38: 5:36876937-36876938
10 NIPBL NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) DUP Pathogenic
180189 rs730880331 GRCh37: 5:37020761-37020762
GRCh38: 5:37020659-37020660
11 NIPBL NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) DEL Pathogenic
180190 rs727503766 GRCh37: 5:36985429-36985430
GRCh38: 5:36985327-36985328
12 NIPBL NM_133433.4(NIPBL):c.1808del (p.Lys603fs) DEL Pathogenic
180191 rs727503767 GRCh37: 5:36985083-36985083
GRCh38: 5:36984981-36984981
13 NIPBL NM_133433.4(NIPBL):c.65-3T>G SNV Pathogenic
180192 rs727503768 GRCh37: 5:36955571-36955571
GRCh38: 5:36955469-36955469
14 NIPBL NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) SNV Pathogenic
180194 rs727503770 GRCh37: 5:36975923-36975923
GRCh38: 5:36975821-36975821
15 NIPBL NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) DEL Pathogenic
180195 rs727503771 GRCh37: 5:37063931-37063968
GRCh38: 5:37063829-37063866
16 NIPBL NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) SNV Pathogenic
180196 rs727503772 GRCh37: 5:37059219-37059219
GRCh38: 5:37059117-37059117
17 TAF6 NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) SNV Pathogenic
180203 rs727503778 GRCh37: 7:99711697-99711697
GRCh38: 7:100114074-100114074
18 NIPBL NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) DEL Pathogenic
476591 rs1554023967 GRCh37: 5:37016180-37016180
GRCh38: 5:37016078-37016078
19 NIPBL NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile) SNV Pathogenic
558736 rs1554025796 GRCh37: 5:37022485-37022485
GRCh38: 5:37022383-37022383
20 NIPBL NM_133433.4(NIPBL):c.459-2A>G SNV Pathogenic
523203 rs1561083229 GRCh37: 5:36962223-36962223
GRCh38: 5:36962121-36962121
21 NIPBL NC_000005.10:g.(?_36877164)_(37064912_?)del DEL Pathogenic
583693 GRCh37: 5:36877266-37065014
GRCh38: 5:36877164-37064912
22 NIPBL NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) SNV Pathogenic
521020 rs1554015303 GRCh37: 5:36976444-36976444
GRCh38: 5:36976342-36976342
23 NIPBL NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu) SNV Pathogenic
446367 rs1554032789 GRCh37: 5:37048649-37048649
GRCh38: 5:37048547-37048547
24 NIPBL NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) SNV Pathogenic
627581 rs866740147 GRCh37: 5:37000609-37000609
GRCh38: 5:37000507-37000507
25 NIPBL NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs) DEL Pathogenic
647925 rs1580425629 GRCh37: 5:36995855-36995855
GRCh38: 5:36995753-36995753
26 NIPBL NM_133433.4(NIPBL):c.3895del (p.Ile1300fs) DEL Pathogenic
651452 rs1580451470 GRCh37: 5:37006497-37006497
GRCh38: 5:37006395-37006395
27 NIPBL NM_133433.4(NIPBL):c.1320del (p.Asn440fs) DEL Pathogenic
666576 rs1580373035 GRCh37: 5:36976329-36976329
GRCh38: 5:36976227-36976227
28 NIPBL NM_133433.4(NIPBL):c.2291del (p.Asn764fs) DEL Pathogenic
692070 rs1580396767 GRCh37: 5:36985572-36985572
GRCh38: 5:36985470-36985470
29 HDAC8 NM_018486.3(HDAC8):c.1112-4_1116del DEL Pathogenic
694678 rs1602491207 GRCh37: X:71549922-71549930
GRCh38: X:72330072-72330080
30 NIPBL NM_133433.4(NIPBL):c.230+5G>A SNV Pathogenic
642705 rs1580323183 GRCh37: 5:36955744-36955744
GRCh38: 5:36955642-36955642
31 NIPBL NM_133433.4(NIPBL):c.226del (p.His76fs) DEL Pathogenic
802112 rs1580323151 GRCh37: 5:36955735-36955735
GRCh38: 5:36955633-36955633
32 NIPBL NM_133433.4(NIPBL):c.64+2_64+134del DEL Pathogenic
841447 rs1740652803 GRCh37: 5:36953863-36953995
GRCh38: 5:36953761-36953893
33 NIPBL NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter) SNV Pathogenic
930373 rs1740842785 GRCh37: 5:36955670-36955670
GRCh38: 5:36955568-36955568
34 NIPBL NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs) INDEL Pathogenic
931097 rs1744639200 GRCh37: 5:36985408-36985410
GRCh38: 5:36985306-36985308
35 NIPBL NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs) DEL Pathogenic
932014 rs1746711848 GRCh37: 5:37000949-37000950
GRCh38: 5:37000847-37000848
36 NIPBL NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs) MICROSAT Pathogenic
958853 rs1744682329 GRCh37: 5:36985689-36985690
GRCh38: 5:36985587-36985588
37 NIPBL NM_133433.4(NIPBL):c.4643+1_4643+10del DEL Pathogenic
1319757 GRCh37: 5:37014864-37014873
GRCh38: 5:37014762-37014771
38 NIPBL NM_133433.4(NIPBL):c.10dup (p.Asp4fs) DUP Pathogenic
1320125 GRCh37: 5:36953804-36953805
GRCh38: 5:36953702-36953703
39 NIPBL NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter) SNV Pathogenic
1395044 GRCh37: 5:36961600-36961600
GRCh38: 5:36961498-36961498
40 NIPBL NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs) MICROSAT Pathogenic
1390979 GRCh37: 5:37010263-37010264
GRCh38: 5:37010161-37010162
41 NIPBL NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter) SNV Pathogenic
1420453 GRCh37: 5:36986322-36986322
GRCh38: 5:36986220-36986220
42 NIPBL NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer) DEL Pathogenic
1379181 GRCh37: 5:36985067-36985071
GRCh38: 5:36984965-36984969
43 NIPBL NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs) DUP Pathogenic
1406195 GRCh37: 5:37026343-37026344
GRCh38: 5:37026241-37026242
44 NIPBL NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs) DUP Pathogenic
1399376 GRCh37: 5:37038810-37038811
GRCh38: 5:37038708-37038709
45 NIPBL NM_133433.4(NIPBL):c.3040del (p.Gln1014fs) DEL Pathogenic
1382932 GRCh37: 5:36986322-36986322
GRCh38: 5:36986220-36986220
46 NIPBL NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter) SNV Pathogenic
1383143 GRCh37: 5:36986382-36986382
GRCh38: 5:36986280-36986280
47 NIPBL NC_000005.9:g.(?_36953718)_(37027534_?)del DEL Pathogenic
1456136 GRCh37: 5:36953718-37027534
GRCh38:
48 NIPBL NM_133433.4(NIPBL):c.-320C>A SNV Pathogenic
1456405 GRCh37: 5:36877040-36877040
GRCh38: 5:36876938-36876938
49 NIPBL NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter) SNV Pathogenic
1457272 GRCh37: 5:37000576-37000576
GRCh38: 5:37000474-37000474
50 NIPBL NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs) DEL Pathogenic
1458560 GRCh37: 5:36985109-36985110
GRCh38: 5:36985007-36985008

Copy number variations for Cornelia De Lange Syndrome from CNVD:

6 (show all 12)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 39200 10 111800000 114900000 Copy number SMC3 Cornelia de Lange syndrome
2 199073 5 34400000 38500000 Copy number NIPBL Cornelia de Lange syndrome
3 300140 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements HDAC8 Cornelia de Lange syndrome
4 300141 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements NIPBL Cornelia de Lange syndrome
5 300142 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements RAD21 Cornelia de Lange syndrome
6 300143 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC1A Cornelia de Lange syndrome
7 300144 10 105700000 119100000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC3 Cornelia de Lange syndrome
8 304599 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements HDAC8 Cornelia de Lange syndrome
9 304600 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements NIPBL Cornelia de Lange syndrome
10 304601 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements RAD21 Cornelia de Lange syndrome
11 304602 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC1A Cornelia de Lange syndrome
12 304603 8 117700000 127300000 Missense,nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements SMC3 Cornelia de Lange syndrome

Expression for Cornelia De Lange Syndrome

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

Pathways for Cornelia De Lange Syndrome

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 CDCA5 ESCO1 ESCO2 ESPL1 HDAC8 MAU2
2
Show member pathways
12.99 CDCA5 HDAC8 PDS5A RAD21 SMC1A SMC3
3
Show member pathways
12.81 CDCA5 ESPL1 HDAC8 PDS5A RAD21 SMC1A
4
Show member pathways
12.52 STAG2 SMC3 SMC1A RAD21 MRE11
5
Show member pathways
12.37 STAG2 SMC3 SMC1A RAD21 ESPL1
6 12.35 WAPL STAG2 SMC3 SMC1A RAD21 MRE11
7 12.32 WAPL STAG2 SMC3 SMC1A RAD21 KMT2A
8
Show member pathways
12.12 STAG2 SMC3 SMC1A RAD21 ESPL1
9
Show member pathways
11.69 SMC3 SMC1A MRE11
10
Show member pathways
11.61 SMC3 SMC1A MRE11
11 10.95 WAPL STAG2 SMC3 SMC1A RAD21 PDS5A
12
Show member pathways
10.92 WAPL STAG2 SMC3 SMC1A RAD21 PDS5A
13 10.6 SMC3 SMC1A RAD21 MRE11

GO Terms for Cornelia De Lange Syndrome

Cellular components related to Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.68 ANKRD11 BRD4 CDCA5 ESCO1 ESCO2 ESPL1
2 nucleoplasm GO:0005654 10.55 ANKRD11 BRD4 CDCA5 ESCO1 ESCO2 HDAC8
3 chromatin GO:0000785 10.23 BRD4 CDCA5 ESCO1 ESCO2 MAU2 NIPBL
4 nuclear matrix GO:0016363 10.1 STAG2 SMC3 SMC1A RAD21
5 condensed nuclear chromosome GO:0000794 9.99 SMC1A RAD21 BRD4
6 mitotic spindle pole GO:0097431 9.95 STAG2 SMC3 SMC1A
7 cohesin complex GO:0008278 9.86 STAG2 SMC3 SMC1A RAD21
8 chromosome, centromeric region GO:0000775 9.8 CDCA5 PDS5A RAD21 SMC1A SMC3 STAG2
9 meiotic cohesin complex GO:0030893 9.77 RAD21 SMC1A SMC3
10 SMC loading complex GO:0032116 9.76 MAU2 NIPBL
11 Scc2-Scc4 cohesin loading complex GO:0090694 9.73 MAU2 NIPBL
12 chromosome GO:0005694 9.68 WAPL STAG2 SMC3 SMC1A RAD21 PDS5A
13 DNA packaging complex GO:0044815 9.52 SMC3 SMC1A

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 10.25 SMC3 SMC1A RAD21 PDS5A MRE11
2 cell division GO:0051301 10.22 WAPL STAG2 SMC3 SMC1A RAD21 PDS5A
3 cellular response to DNA damage stimulus GO:0006974 10.21 BRD4 MRE11 NIPBL RAD21 SMC1A SMC3
4 meiotic cell cycle GO:0051321 10.09 STAG2 SMC3 SMC1A MRE11
5 double-strand break repair GO:0006302 10.08 RAD21 MRE11 ESCO2 CDCA5
6 regulation of DNA replication GO:0006275 10.06 SMC3 ESCO2 ESCO1
7 mitotic spindle assembly GO:0090307 10.05 STAG2 SMC3 SMC1A
8 cell cycle GO:0007049 10.03 CDCA5 ESCO1 ESCO2 MAU2 NIPBL PDS5A
9 protein localization to chromatin GO:0071168 9.93 WAPL RAD21 ESCO2
10 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.89 RAD21 NIPBL
11 regulation of cohesin loading GO:0071922 9.88 WAPL HDAC8 CDCA5
12 maintenance of mitotic sister chromatid cohesion GO:0034088 9.87 NIPBL MAU2
13 establishment of meiotic sister chromatid cohesion GO:0034089 9.85 SMC3 SMC1A RAD21
14 establishment of mitotic sister chromatid cohesion GO:0034087 9.85 STAG2 SMC3 SMC1A RAD21 NIPBL
15 post-translational protein acetylation GO:0034421 9.83 ESCO2 ESCO1
16 chromosome segregation GO:0007059 9.83 ESCO2 ESPL1 MAU2 RAD21 STAG2
17 negative regulation of sister chromatid cohesion GO:0045875 9.81 ESPL1 WAPL
18 cohesin loading GO:0071921 9.8 MAU2 NIPBL
19 sister chromatid cohesion GO:0007062 9.77 ESCO1 HDAC8 MRE11 RAD21 SMC1A SMC3
20 chromosome organization GO:0051276 9.71 SMC3 SMC1A MRE11
21 embryo development GO:0009790 9.61 NIPBL CHRD
22 mitotic sister chromatid cohesion GO:0007064 9.5 SMC3 SMC1A PDS5A NIPBL MAU2 ESCO2

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.86 STAG2 SMC3 SMC1A RAD21 NIPBL KMT2A
2 peptide-lysine-N-acetyltransferase activity GO:0061733 9.46 ESCO2 ESCO1
3 mediator complex binding GO:0036033 9.1 SMC3 SMC1A NIPBL

Sources for Cornelia De Lange Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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