BDLS
MCID: CRN015
MIFTS: 63

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 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 Protective Agents and Fluorides have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are short neck and high palate

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 Cornelia De Lange Syndrome 3
Cornelia De Lange Syndrome 4

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

(show top 50) (show all 251)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 35.6 TAF6 RAD21 NIPBL KMT2A HDAC8 CPLANE1
2 wiedemann-steiner syndrome 33.8 SMC3 SMC1A KMT2A
3 roberts syndrome 31.7 SMC3 SMC1A RAD21 NIPBL MAU2 HDAC8
4 chromosomal triplication 31.4 PAPPA KMT2A
5 diaphragmatic hernia, congenital 31.3 SMC3 SMC1A NIPBL
6 sc phocomelia syndrome 31.0 SMC3 SMC1A RAD21 NIPBL MAU2 ESCO2
7 cornelia de lange syndrome 3 13.2
8 cornelia de lange syndrome 5 13.2
9 cornelia de lange syndrome 2 13.2
10 cornelia de lange syndrome 4 13.2
11 calvarial doughnut lesions with bone fragility 12.0
12 alazami-yuan syndrome 11.9
13 trichomegaly 11.6
14 ritscher-schinzel syndrome 1 11.6
15 chops syndrome 11.6
16 alacrima, achalasia, and mental retardation syndrome 11.0
17 microcephaly 10.8
18 cleft palate, isolated 10.8
19 gastroesophageal reflux 10.7
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
21 hypertrichosis 10.7
22 ptosis 10.7
23 myopia 10.7
24 intestinal volvulus 10.7
25 autism 10.6
26 adenoma 10.6
27 cholestasis 10.6
28 lacrimal duct defect 10.5
29 down syndrome 10.5
30 autism spectrum disorder 10.5
31 sensorineural hearing loss 10.5
32 heart septal defect 10.5
33 chronic atrial and intestinal dysrhythmia 10.5 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
34 trichorhinophalangeal syndrome, type ii 10.5
35 aspiration pneumonia 10.5
36 blepharitis 10.5
37 trichorhinophalangeal syndrome 10.5
38 warsaw breakage syndrome 10.5 SMC3 SMC1A RAD21 NIPBL ESCO2 CDCA5
39 exostoses, multiple, type i 10.4
40 hypertelorism 10.4
41 strabismus 10.4
42 trichorhinophalangeal syndrome, type i 10.4
43 scoliosis 10.4
44 ventricular septal defect 10.4
45 mechanical strabismus 10.4
46 dwarfism 10.4
47 portal hypertension 10.4
48 cri-du-chat syndrome 10.4
49 chromosome 2q35 duplication syndrome 10.4
50 cerebellar hypoplasia 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 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
11 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
12 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
13 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
14 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
15 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
16 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
17 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
18 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
19 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
20 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
21 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
22 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
23 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
24 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
25 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
26 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
27 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
28 curly eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0007665
29 abnormally low-pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0010300
30 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
31 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
32 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
33 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
34 short 1st metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010034
35 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
36 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
37 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
38 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
39 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
40 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
41 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
42 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
43 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
44 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
45 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
46 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
47 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
48 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
49 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
50 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 9.02 CDCA5 PAPPA RAD21 SMC1A SMC3

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 CHRD CPLANE1 ESCO2 HDAC8 KMT2A MAU2
2 growth/size/body region MP:0005378 10.2 CDCA5 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
3 craniofacial MP:0005382 10.18 CDCA5 CHRD CPLANE1 HDAC8 KMT2A MAU2
4 cardiovascular system MP:0005385 10.11 CHRD CPLANE1 HDAC8 KMT2A MYC NIPBL
5 embryo MP:0005380 10.11 CDCA5 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
6 mortality/aging MP:0010768 9.89 CDCA5 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
7 hearing/vestibular/ear MP:0005377 9.73 CHRD CPLANE1 KMT2A MAU2 MYC NIPBL
8 limbs/digits/tail MP:0005371 9.63 CPLANE1 KMT2A MYC NIPBL SETD5 SHOX2
9 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protective Agents
2 Fluorides
3 Cariostatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 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

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 875)
# Title Authors PMID Year
1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. 24 61 6
25655089 2015
2
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 61 24 6
22885700 2012
3
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 6 24 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. 6 24 61
17273969 2007
5
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 24 6 61
16604071 2006
6
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 24 6 61
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 24 6
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. 6 24
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 61 54
16799922 2006
11
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. 61 54 6
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. 6 61
22106055 2012
14
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 6 61
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 61 6
20301283 2005
17
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
18
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 61 24
25730767 2015
19
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 24 61
25574841 2015
20
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 24 61
24403048 2014
21
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results. 24 61
24706566 2014
22
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. 61 24
24378232 2014
23
Immunologic features of Cornelia de Lange syndrome. 61 24
23821697 2013
24
High rate of mosaicism in individuals with Cornelia de Lange syndrome. 61 24
23505322 2013
25
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
26
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
27
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. 61 24
22740382 2012
28
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. 61 24
22353942 2012
29
Germline mosaicism in Cornelia de Lange syndrome. 24 61
22581668 2012
30
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. 61 24
22069164 2011
31
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. 61 24
20583156 2010
32
Cornelia de Lange syndrome: extending the physical and psychological phenotype. 24 61
20425817 2010
33
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 24 61
19842212 2010
34
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 24 61
19701948 2009
35
Descriptive epidemiology of Cornelia de Lange syndrome in Europe. 24 61
18074387 2008
36
Natural history of aging in Cornelia de Lange syndrome. 24 61
17640042 2007
37
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
38
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. 61 24
17508425 2007
39
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 61 24
17221863 2007
40
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. 24 61
16770807 2006
41
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 24 61
16236812 2006
42
Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila. 24 61
16207752 2005
43
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 24 61
16100726 2005
44
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. 24 61
16086407 2005
45
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
46
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. 61 24
15591270 2004
47
Adherin: key to the cohesin ring and cornelia de Lange syndrome. 24 61
15458660 2004
48
Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. 24 61
14558036 2003
49
Cornelia de Lange syndrome, hyperthermia and a difficult airway. 24 61
12911384 2003
50
Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. 61 24
11975974 2002

Variations for Cornelia De Lange Syndrome

ClinVar genetic disease variations for Cornelia De Lange Syndrome:

6 (show top 50) (show all 165) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 NIPBL NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)SNV Conflicting interpretations of pathogenicity 159051 rs185678374 5:36985576-36985576 5:36985474-36985474
3 NIPBL NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)SNV Conflicting interpretations of pathogenicity 159030 rs2291703 5:36976160-36976160 5:36976058-36976058
4 NIPBL NM_133433.4(NIPBL):c.615G>A (p.Ser205=)SNV Conflicting interpretations of pathogenicity 159178 rs150678035 5:36970982-36970982 5:36970880-36970880
5 SMC1A NM_001281463.1(SMC1A):c.1188+11G>CSNV Conflicting interpretations of pathogenicity 159939 rs144354524 X:53438700-53438700 X:53411750-53411750
6 SMC1A NM_001281463.1(SMC1A):c.*14C>TSNV Conflicting interpretations of pathogenicity 159937 rs112727682 X:53407010-53407010 X:53380089-53380089
7 NIPBL NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=)SNV Conflicting interpretations of pathogenicity 353387 rs149186951 5:37048659-37048659 5:37048557-37048557
8 NIPBL NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)SNV Conflicting interpretations of pathogenicity 159081 rs571024836 5:37000593-37000593 5:37000491-37000491
9 SMC3 NM_005445.3(SMC3):c.255A>G (p.Ser85=)SNV Conflicting interpretations of pathogenicity 159980 rs146433240 10:112337235-112337235 10:110577477-110577477
10 SMC3 NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg)SNV Conflicting interpretations of pathogenicity 159966 rs142524280 10:112344129-112344129 10:110584371-110584371
11 SMC3 NM_005445.3(SMC3):c.2329T>C (p.Leu777=)SNV Conflicting interpretations of pathogenicity 159975 rs76625999 10:112359472-112359472 10:110599714-110599714
12 SMC3 NM_005445.3(SMC3):c.2535+15T>GSNV Conflicting interpretations of pathogenicity 159979 rs3818903 10:112360319-112360319 10:110600561-110600561
13 SMC3 NM_005445.3(SMC3):c.2934G>A (p.Lys978=)SNV Conflicting interpretations of pathogenicity 159983 rs147463420 10:112361765-112361765 10:110602007-110602007
14 NIPBL NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)SNV Uncertain significance 193759 rs199546324 5:36985115-36985115 5:36985013-36985013
15 NIPBL NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)SNV Uncertain significance 353372 rs746183321 5:36976217-36976217 5:36976115-36976115
16 NIPBL NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)SNV Uncertain significance 353373 rs150837768 5:36976385-36976385 5:36976283-36976283
17 NIPBL NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln)SNV Uncertain significance 353383 rs886060558 5:37020718-37020718 5:37020616-37020616
18 NIPBL NM_133433.4(NIPBL):c.*265_*266deldeletion Uncertain significance 353392 rs886060563 5:37065259-37065260 5:37065157-37065158
19 NIPBL NM_133433.4(NIPBL):c.*460deldeletion Uncertain significance 353395 rs768908921 5:37065454-37065454 5:37065352-37065352
20 NIPBL NM_133433.4(NIPBL):c.*742_*743deldeletion Uncertain significance 353398 rs886060567 5:37065736-37065737 5:37065634-37065635
21 NIPBL NM_133433.4(NIPBL):c.-424T>CSNV Uncertain significance 353361 rs886060552 5:36876936-36876936 5:36876834-36876834
22 NIPBL NM_133433.4(NIPBL):c.-410C>TSNV Uncertain significance 353363 rs886060554 5:36876950-36876950 5:36876848-36876848
23 NIPBL NM_133433.4(NIPBL):c.-338C>TSNV Uncertain significance 353365 rs886060556 5:36877022-36877022 5:36876920-36876920
24 NIPBL NM_133433.4(NIPBL):c.*545A>GSNV Uncertain significance 353396 rs886060566 5:37065539-37065539 5:37065437-37065437
25 NIPBL NM_133433.4(NIPBL):c.-379G>ASNV Uncertain significance 353364 rs886060555 5:36876981-36876981 5:36876879-36876879
26 NIPBL NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser)SNV Uncertain significance 353374 rs144289137 5:36985003-36985003 5:36984901-36984901
27 SMC3 NM_005445.3(SMC3):c.-115T>CSNV Uncertain significance 298758 rs886046691 10:112327460-112327460 10:110567702-110567702
28 SMC3 NM_005445.3(SMC3):c.2645-8C>TSNV Uncertain significance 298776 rs886046695 10:112361387-112361387 10:110601629-110601629
29 SMC3 NM_005445.3(SMC3):c.*17A>GSNV Uncertain significance 298778 rs199611616 10:112364077-112364077 10:110604319-110604319
30 SMC3 NM_005445.3(SMC3):c.*77C>TSNV Uncertain significance 298779 rs886046696 10:112364137-112364137 10:110604379-110604379
31 SMC3 NM_005445.3(SMC3):c.*298deldeletion Uncertain significance 298781 rs886046697 10:112364358-112364358 10:110604600-110604600
32 SMC3 NM_005445.3(SMC3):c.369C>T (p.Asn123=)SNV Uncertain significance 298764 rs779773957 10:112338404-112338404 10:110578646-110578646
33 SMC3 NM_005445.3(SMC3):c.2268+13A>GSNV Uncertain significance 298773 rs755422141 10:112358061-112358061 10:110598303-110598303
34 SMC3 NM_005445.3(SMC3):c.1558C>A (p.Arg520Ser)SNV Uncertain significance 298767 rs768778247 10:112350218-112350218 10:110590460-110590460
35 SMC1A NM_001281463.1(SMC1A):c.*5915T>CSNV Uncertain significance 368542 rs1057515951 X:53401109-53401109 X:53374188-53374188
36 SMC1A NM_001281463.1(SMC1A):c.*5692G>ASNV Uncertain significance 368543 rs1057515952 X:53401332-53401332 X:53374411-53374411
37 SMC1A NM_001281463.1(SMC1A):c.*5352C>TSNV Uncertain significance 368548 rs1057515953 X:53401672-53401672 X:53374751-53374751
38 SMC1A NM_001281463.1(SMC1A):c.*4443G>ASNV Uncertain significance 368554 rs782630117 X:53402581-53402581 X:53375660-53375660
39 SMC1A NM_001281463.1(SMC1A):c.*3777C>GSNV Uncertain significance 368560 rs41315082 X:53403247-53403247 X:53376326-53376326
40 SMC1A NM_001281463.1(SMC1A):c.*2225G>ASNV Uncertain significance 368574 rs1047323522 X:53404799-53404799 X:53377878-53377878
41 SMC1A NM_001281463.1(SMC1A):c.*2050T>CSNV Uncertain significance 368575 rs1057515964 X:53404974-53404974 X:53378053-53378053
42 SMC1A NM_001281463.1(SMC1A):c.*1961C>TSNV Uncertain significance 368576 rs986586627 X:53405063-53405063 X:53378142-53378142
43 SMC1A NM_001281463.1(SMC1A):c.*1559G>ASNV Uncertain significance 368577 rs782736361 X:53405465-53405465 X:53378544-53378544
44 SMC1A NM_001281463.1(SMC1A):c.*4581T>CSNV Uncertain significance 368553 rs1057515955 X:53402443-53402443 X:53375522-53375522
45 SMC1A NM_001281463.1(SMC1A):c.*4382A>GSNV Uncertain significance 368555 rs906340789 X:53402642-53402642 X:53375721-53375721
46 SMC1A NM_001281463.1(SMC1A):c.*3807G>ASNV Uncertain significance 368559 rs1057515958 X:53403217-53403217 X:53376296-53376296
47 SMC1A NM_001281463.1(SMC1A):c.*3671C>TSNV Uncertain significance 368561 rs1057515959 X:53403353-53403353 X:53376432-53376432
48 SMC1A NM_001281463.1(SMC1A):c.*2435T>GSNV Uncertain significance 368572 rs782650092 X:53404589-53404589 X:53377668-53377668
49 SMC1A NM_001281463.1(SMC1A):c.*1240A>GSNV Uncertain significance 368578 rs1057515966 X:53405784-53405784 X:53378863-53378863
50 SMC1A NM_001281463.1(SMC1A):c.*348C>TSNV Uncertain significance 368586 rs782700234 X:53406676-53406676 X:53379755-53379755

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 chromatin GO:0000785 9.56 STAG2 STAG1 SMC3 RAD21 NIPBL MAU2
9 Scc2-Scc4 cohesin loading complex GO:0090694 9.49 NIPBL MAU2
10 SMC loading complex GO:0032116 9.48 NIPBL MAU2
11 cohesin complex GO:0008278 9.1 STAG2 STAG1 SMC3 SMC1A RAD21 CDCA5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 SMC3 SMC1A RAD21 NIPBL MYC
2 chromatin organization GO:0006325 9.9 TAF6 SETD5 KMT2A HDAC8
3 cell division GO:0051301 9.86 TNKS STAG2 STAG1 SMC3 SMC1A RAD21
4 meiotic cell cycle GO:0051321 9.8 STAG2 SMC3 SMC1A RAD21
5 chromosome segregation GO:0007059 9.77 STAG2 STAG1 RAD21 MAU2 ESCO2
6 stem cell population maintenance GO:0019827 9.71 SMC3 SMC1A NIPBL
7 double-strand break repair GO:0006302 9.71 RAD21 NIPBL ESCO2 CDCA5
8 chromosome organization GO:0051276 9.65 SMC3 SMC1A MYC
9 cell cycle GO:0007049 9.65 TNKS STAG2 STAG1 SMC3 SMC1A RAD21
10 regulation of mitotic spindle assembly GO:1901673 9.62 STAG2 STAG1 SMC3 SMC1A
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 SHOX2 MYC CHRD
12 regulation of DNA replication GO:0006275 9.59 SMC3 ESCO2
13 embryonic digestive tract morphogenesis GO:0048557 9.58 SHOX2 NIPBL
14 mitotic chromosome condensation GO:0007076 9.58 NIPBL CDCA5
15 protein localization to chromatin GO:0071168 9.57 RAD21 ESCO2
16 regulation of telomere maintenance GO:0032204 9.56 MYC HDAC8
17 regulation of cohesin loading GO:0071922 9.52 HDAC8 CDCA5
18 maintenance of mitotic sister chromatid cohesion GO:0034088 9.51 NIPBL MAU2
19 cohesin loading GO:0071921 9.46 NIPBL MAU2
20 mitotic sister chromatid cohesion GO:0007064 9.46 SMC1A NIPBL MAU2 CDCA5
21 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 chromatin binding GO:0003682 9.5 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
2 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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