BDLS
MCID: CRN015
MIFTS: 64

Cornelia De Lange Syndrome (BDLS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Cornelia De Lange Syndrome

MalaCards integrated aliases for Cornelia De Lange Syndrome:

Name: Cornelia De Lange Syndrome 12 74 24 52 25 58 36 29 54 6 15 39
De Lange Syndrome 12 24 52 25 43
Brachmann-De Lange Syndrome 24 25 58
Cdls 24 52 25
Typus Degenerativus Amstelodamensis 52 25
Brachmann De Lange Syndrome 12 52
Bdls 24 25

Characteristics:

Orphanet epidemiological data:

58
cornelia de lange syndrome
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance No unaffected individuals with a somatic heterozygous pathogenic variant in nipbl have been reported; thus, penetrance appears to be 100%....

Classifications:

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


Summaries for Cornelia De Lange Syndrome

Genetics Home Reference : 25 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 1 and wiedemann-steiner syndrome. An important gene associated with Cornelia De Lange Syndrome is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are Cell cycle and Oocyte meiosis. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are delayed skeletal maturation and depressed nasal bridge

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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 (mutation ) in the NIPBL gene , and about 10% of cases are caused by mutations 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 ) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.

Wikipedia : 74 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 266)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 35.7 TAF6 RAD21 NIPBL KMT2A HDAC8 CPLANE1
2 wiedemann-steiner syndrome 34.0 SMC3 SMC1A KMT2A
3 alacrima, achalasia, and mental retardation syndrome 32.2 SMC3 SETD5 KMT2A HDAC8
4 familial isolated trichomegaly 31.8 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
5 microcephaly 31.7 TAF6 STAG2 SMC1A NIPBL KMT2A HDAC8
6 diaphragmatic hernia, congenital 31.5 SMC3 SMC1A PAPPA NIPBL
7 chromosomal triplication 31.4 PAPPA KMT2A
8 roberts syndrome 31.4 STAG2 SMC3 SMC1A RAD21 NIPBL MAU2
9 kbg syndrome 31.4 TAF6 SMC3 SMC1A RAD21 NIPBL HDAC8
10 sc phocomelia syndrome 31.1 SMC3 SMC1A RAD21 NIPBL ESCO2
11 cornelia de lange syndrome 3 with or without midline brain defects 13.2
12 cornelia de lange syndrome 5 13.2
13 cornelia de lange syndrome 2 13.2
14 cornelia de lange syndrome 4 with or without midline brain defects 13.2
15 calvarial doughnut lesions with bone fragility 12.0
16 alazami-yuan syndrome 11.9
17 trichomegaly 11.6
18 ritscher-schinzel syndrome 1 11.6
19 chops syndrome 11.6
20 gastroesophageal reflux 10.8
21 cleft palate, isolated 10.8
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
23 hypertrichosis 10.7
24 volvulus of midgut 10.7
25 joint laxity, short stature, and myopia 10.7
26 ptosis 10.7
27 myopia 10.7
28 chronic atrial and intestinal dysrhythmia 10.6 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
29 adenoma 10.6
30 warsaw breakage syndrome 10.6 SMC3 SMC1A RAD21 NIPBL ESCO2 CDCA5
31 syndromic intellectual disability 10.6 TAF6 STAG1 SETD5
32 eyelid disease 10.6 SMC3 SMC1A NIPBL
33 autosomal dominant non-syndromic intellectual disability 10.6 SMC3 SMC1A SETD5 RAD21 NIPBL KMT2A
34 autism 10.6
35 holoprosencephaly 10.6 STAG2 SMC3 SMC1A RAD21 CHRD
36 cholestasis 10.6
37 lacrimal duct defect 10.5
38 down syndrome 10.5
39 autism spectrum disorder 10.5
40 sensorineural hearing loss 10.5
41 heart septal defect 10.5
42 trichorhinophalangeal syndrome, type ii 10.5
43 aspiration pneumonia 10.5
44 blepharitis 10.5
45 trichorhinophalangeal syndrome 10.5
46 orofacial cleft 10.5 SHOX2 NIPBL ESCO2 CHRD
47 exostoses, multiple, type i 10.4
48 hypertelorism 10.4
49 strabismus 10.4
50 trichorhinophalangeal syndrome, type i 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 31 (show top 50) (show all 101)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
9 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
11 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
12 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
13 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
14 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
15 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
16 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
17 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
18 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
19 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
20 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
21 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
22 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
23 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
24 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
25 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
26 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
27 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
28 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
29 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
30 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
31 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
32 curly eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0007665
33 short 1st metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010034
34 abnormally low-pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0010300
35 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
36 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
37 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
38 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
39 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
40 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
41 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
42 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
43 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
44 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
45 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
46 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
47 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
48 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
49 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
50 low-set, posteriorly rotated ears 58 31 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 10.22 CDCA5 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
2 cellular MP:0005384 10.21 CHRD CPLANE1 ESCO2 HDAC8 KMT2A MAU2
3 craniofacial MP:0005382 10.18 CDCA5 CHRD CPLANE1 HDAC8 KMT2A MAU2
4 embryo MP:0005380 10.11 CDCA5 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
5 mortality/aging MP:0010768 9.89 CDCA5 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
6 hearing/vestibular/ear MP:0005377 9.8 CHRD CPLANE1 KMT2A MAU2 MYC NIPBL
7 limbs/digits/tail MP:0005371 9.63 CPLANE1 KMT2A MYC NIPBL SETD5 SHOX2
8 skeleton MP:0005390 9.4 CHRD CPLANE1 HDAC8 KMT2A MAU2 MYC

Drugs & Therapeutics for Cornelia De Lange Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
3 Respiratory System Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antidotes Phase 2
6 Antioxidants Phase 2
7 Expectorants Phase 2
8 Pharmaceutical Solutions Phase 2
9 Antiviral Agents Phase 2
10 Protective Agents Phase 2
11 N-monoacetylcystine Phase 2
12 Fluorides

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 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
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

Genetic tests related to Cornelia De Lange Syndrome:

# Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 29

Anatomical Context for Cornelia De Lange Syndrome

MalaCards organs/tissues related to Cornelia De Lange Syndrome:

40
Heart, Bone, Eye, Brain, Kidney, Uterus, Cerebellum

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 900)
# Title Authors PMID Year
1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. 24 6 61
25655089 2015
2
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 61 6 24
22885700 2012
3
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 24 6 61
18996922 2009
4
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 24 6 61
17273969 2007
5
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 6 61 24
16604071 2006
6
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 61 6 24
15318302 2004
7
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 61 6 24
15146185 2004
8
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 24 61 6
15146186 2004
9
RAD21 mutations cause a human cohesinopathy. 24 6
22633399 2012
10
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. 6 54 61
16799922 2006
11
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. 6 54 61
11391654 2001
12
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 6 61
25125236 2014
13
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. 61 6
22106055 2012
14
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 61 6
20635401 2010
15
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 24 54 61
17661813 2007
16
Cornelia de Lange Syndrome 6 61
20301283 2005
17
Cohesin complex-associated holoprosencephaly. 6
31334757 2019
18
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. 24 61
25899772 2015
19
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 24 61
25730767 2015
20
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 24 61
25574841 2015
21
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 61 24
24403048 2014
22
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results. 24 61
24706566 2014
23
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. 24 61
24378232 2014
24
Immunologic features of Cornelia de Lange syndrome. 61 24
23821697 2013
25
High rate of mosaicism in individuals with Cornelia de Lange syndrome. 24 61
23505322 2013
26
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
27
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. 24 61
22740382 2012
28
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 6
22889856 2012
29
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. 24 61
22353942 2012
30
Germline mosaicism in Cornelia de Lange syndrome. 61 24
22581668 2012
31
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. 24 61
22069164 2011
32
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. 24 61
20583156 2010
33
Cornelia de Lange syndrome: extending the physical and psychological phenotype. 61 24
20425817 2010
34
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 24 61
19842212 2010
35
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 61 24
19701948 2009
36
Descriptive epidemiology of Cornelia de Lange syndrome in Europe. 61 24
18074387 2008
37
Natural history of aging in Cornelia de Lange syndrome. 24 61
17640042 2007
38
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. 61 24
17508425 2007
39
Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization. 61 24
17497725 2007
40
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 61 24
17221863 2007
41
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 24 61
16236812 2006
42
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. 24 61
16770807 2006
43
Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila. 61 24
16207752 2005
44
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 24 61
16100726 2005
45
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. 24 61
16086407 2005
46
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. 24 61
16075459 2005
47
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. 61 24
15591270 2004
48
Adherin: key to the cohesin ring and cornelia de Lange syndrome. 61 24
15458660 2004
49
Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. 61 24
14558036 2003
50
Cornelia de Lange syndrome, hyperthermia and a difficult airway. 61 24
12911384 2003

Variations for Cornelia De Lange Syndrome

ClinVar genetic disease variations for Cornelia De Lange Syndrome:

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NIPBL NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)SNV Pathogenic 627581 rs866740147 5:37000609-37000609 5:37000507-37000507
2 SMC3 NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)SNV Likely pathogenic 695033 10:112338416-112338416 10:110578658-110578658
3 SMC3 NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val)SNV Likely pathogenic 695026 10:112363029-112363029 10:110603271-110603271
4 SMC1A NM_001281463.1(SMC1A):c.*14C>TSNV Conflicting interpretations of pathogenicity 159937 rs112727682 X:53407010-53407010 X:53380089-53380089
5 NIPBL NM_133433.4(NIPBL):c.-153dupduplication Uncertain significance 353370 rs567891305 5:36877200-36877201 5:36877098-36877099
6 SMC1A NM_001281463.1(SMC1A):c.*817_*820ACAG[1]short repeat Uncertain significance 368581 rs1057515968 X:53406200-53406203 X:53379279-53379282
7 SMC3 NM_005445.3(SMC3):c.*298deldeletion Uncertain significance 298781 rs886046697 10:112364353-112364353 10:110604595-110604595
8 NIPBL NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)SNV Uncertain significance 353373 rs150837768 5:36976385-36976385 5:36976283-36976283
9 NIPBL NM_133433.4(NIPBL):c.-416dupduplication Uncertain significance 353362 rs886060553 5:36876936-36876937 5:36876834-36876835
10 NIPBL NM_133433.4(NIPBL):c.*742_*743deldeletion Uncertain significance 353398 rs886060567 5:37065735-37065736 5:37065633-37065634
11 NIPBL NM_133433.4(NIPBL):c.*460deldeletion Uncertain significance 353395 rs768908921 5:37065443-37065443 5:37065341-37065341
12 NIPBL NM_133433.4(NIPBL):c.*265_*266deldeletion Uncertain significance 353392 rs886060563 5:37065258-37065259 5:37065156-37065157
13 SMC1A NM_001281463.1(SMC1A):c.*348C>TSNV Uncertain significance 368586 rs782700234 X:53406676-53406676 X:53379755-53379755
14 SMC3 NM_005445.3(SMC3):c.2535+28dupduplication Uncertain significance 298774 rs397847637 10:112360315-112360316 10:110600557-110600558
15 SMC3 NM_005445.3(SMC3):c.1670+6_1670+7insAACinsertion Uncertain significance 298768 rs766155607 10:112350336-112350337 10:110590578-110590579
16 NIPBL NM_133433.4(NIPBL):c.-429deldeletion Likely benign 353359 rs376839773 5:36876926-36876926 5:36876824-36876824
17 NIPBL NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)SNV Likely benign 804315 rs1216631170 5:37060957-37060957 5:37060855-37060855
18 SMC1A NM_001281463.1(SMC1A):c.*4952_*4953deldeletion Likely benign 368551 rs782700101 X:53402071-53402072 X:53375150-53375151
19 SMC1A NM_001281463.1(SMC1A):c.*5380G>ASNV Likely benign 368546 rs186354950 X:53401644-53401644 X:53374723-53374723
20 SMC1A NM_001281463.1(SMC1A):c.*3838G>ASNV Likely benign 368558 rs144702614 X:53403186-53403186 X:53376265-53376265
21 SMC1A NM_001281463.1(SMC1A):c.*2589A>GSNV Likely benign 368569 rs782291666 X:53404435-53404435 X:53377514-53377514
22 SMC1A NM_001281463.1(SMC1A):c.*2540C>GSNV Likely benign 368570 rs182535846 X:53404484-53404484 X:53377563-53377563
23 NIPBL NM_133433.4(NIPBL):c.*282_*285deldeletion Likely benign 353393 rs535770794 5:37065274-37065277 5:37065172-37065175
24 SMC3 NM_005445.3(SMC3):c.-130G>ASNV Likely benign 368882 rs559499419 10:112327445-112327445 10:110567687-110567687
25 SMC3 NM_005445.3(SMC3):c.-135G>ASNV Likely benign 368881 rs17127559 10:112327440-112327440 10:110567682-110567682
26 SMC1A NM_001281463.1(SMC1A):c.*96C>TSNV Likely benign 368587 rs139317060 X:53406928-53406928 X:53380007-53380007
27 SMC1A NM_001281463.1(SMC1A):c.*2973C>TSNV Likely benign 368564 rs56110615 X:53404051-53404051 X:53377130-53377130
28 SMC1A NM_001281463.1(SMC1A):c.*4645T>CSNV Likely benign 368552 rs150365487 X:53402379-53402379 X:53375458-53375458
29 NIPBL NM_133433.4(NIPBL):c.*84dupduplication Benign/Likely benign 211619 rs587783876 5:37065069-37065070 5:37064967-37064968
30 NIPBL NM_133433.4(NIPBL):c.1495+8_1495+10delshort repeat Benign/Likely benign 96330 rs398124464 5:36976509-36976511 5:36976407-36976409
31 SMC1A NM_001281463.1(SMC1A):c.2131-5T>CSNV Benign/Likely benign 95365 rs2297104 X:53430830-53430830 X:53403898-53403898
32 SMC3 NM_005445.3(SMC3):c.548-5_548-4dupduplication Benign/Likely benign 159989 rs199906378 10:112341673-112341674 10:110581915-110581916
33 SMC3 NM_005445.3(SMC3):c.724-6dupduplication Benign 159991 rs11380915 10:112342306-112342307 10:110582548-110582549
34 SMC1A NM_001281463.1(SMC1A):c.-231C>TSNV Benign 95364 rs1264011 X:53449568-53449568 X:53422619-53422619
35 SMC3 NM_005445.3(SMC3):c.2535+28deldeletion Benign 298775 rs397847637 10:112360316-112360316 10:110600558-110600558

Copy number variations for Cornelia De Lange Syndrome from CNVD:

7 (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 KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110
2 Oocyte meiosis hsa04114

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
2
Show member pathways
12.63 STAG2 STAG1 SMC3 SMC1A RAD21 HDAC8
3
Show member pathways
12.39 STAG2 STAG1 SMC3 SMC1A RAD21
4
Show member pathways
12.33 STAG2 STAG1 SMC3 SMC1A RAD21 HDAC8
5
Show member pathways
12.29 STAG2 STAG1 SMC3 SMC1A RAD21
6 12.27 STAG2 SMC3 SMC1A RAD21
7 12.21 STAG2 SMC3 SMC1A RAD21 KMT2A
8 11.86 STAG2 STAG1 SMC3 SMC1A RAD21 MYC
9 11.7 STAG2 STAG1 SMC3 SMC1A RAD21
10 11.6 SMC3 SMC1A MYC
11
Show member pathways
10.58 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL

GO Terms for Cornelia De Lange Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.36 TNKS TAF6 STAG2 STAG1 SMC3 SMC1A
2 nucleoplasm GO:0005654 10.22 TNKS TAF6 STAG2 STAG1 SMC3 SMC1A
3 chromosome, centromeric region GO:0000775 9.85 STAG2 STAG1 SMC3 SMC1A RAD21 CDCA5
4 chromosome GO:0005694 9.85 TNKS STAG2 STAG1 SMC3 SMC1A RAD21
5 nuclear matrix GO:0016363 9.8 STAG2 STAG1 SMC3 SMC1A RAD21
6 mitotic spindle pole GO:0097431 9.65 TNKS STAG2 STAG1 SMC3 SMC1A
7 meiotic cohesin complex GO:0030893 9.61 SMC3 SMC1A RAD21
8 Scc2-Scc4 cohesin loading complex GO:0090694 9.49 NIPBL MAU2
9 SMC loading complex GO:0032116 9.48 NIPBL MAU2
10 cohesin complex GO:0008278 9.35 STAG2 STAG1 SMC3 SMC1A RAD21
11 chromatin GO:0000785 9.23 STAG2 STAG1 SMC3 RAD21 NIPBL MAU2

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 cellular response to DNA damage stimulus GO:0006974 9.96 SMC3 SMC1A RAD21 NIPBL MYC
2 chromatin organization GO:0006325 9.91 TAF6 SETD5 KMT2A HDAC8
3 cell division GO:0051301 9.86 TNKS STAG2 STAG1 SMC3 SMC1A RAD21
4 meiotic cell cycle GO:0051321 9.81 STAG2 SMC3 SMC1A RAD21
5 chromosome segregation GO:0007059 9.77 STAG2 STAG1 RAD21 MAU2 ESCO2
6 double-strand break repair GO:0006302 9.73 RAD21 NIPBL ESCO2 CDCA5
7 stem cell population maintenance GO:0019827 9.72 SMC3 SMC1A NIPBL
8 mitotic spindle assembly GO:0090307 9.71 STAG2 STAG1 SMC3 SMC1A
9 chromosome organization GO:0051276 9.67 SMC3 SMC1A MYC
10 cell cycle GO:0007049 9.65 TNKS STAG2 STAG1 SMC3 SMC1A RAD21
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 SHOX2 MYC CHRD
12 regulation of mitotic spindle assembly GO:1901673 9.62 STAG2 STAG1 SMC3 SMC1A
13 regulation of DNA replication GO:0006275 9.6 SMC3 ESCO2
14 embryonic digestive tract morphogenesis GO:0048557 9.59 SHOX2 NIPBL
15 mitotic chromosome condensation GO:0007076 9.58 NIPBL CDCA5
16 protein localization to chromatin GO:0071168 9.58 RAD21 ESCO2
17 regulation of telomere maintenance GO:0032204 9.57 MYC HDAC8
18 regulation of cohesin loading GO:0071922 9.54 HDAC8 CDCA5
19 maintenance of mitotic sister chromatid cohesion GO:0034088 9.52 NIPBL MAU2
20 cohesin loading GO:0071921 9.48 NIPBL MAU2
21 mitotic sister chromatid cohesion GO:0007064 9.46 SMC1A NIPBL MAU2 CDCA5
22 sister chromatid cohesion GO:0007062 9.17 STAG2 STAG1 SMC3 SMC1A RAD21 HDAC8

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 TNKS TAF6 STAG2 STAG1 SMC3 SMC1A
2 chromatin binding GO:0003682 9.5 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
3 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL

Sources for Cornelia De Lange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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