BDLS
MCID: CRN015
MIFTS: 67

Cornelia De Lange Syndrome (BDLS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cornelia De Lange Syndrome

MalaCards integrated aliases for Cornelia De Lange Syndrome:

Name: Cornelia De Lange Syndrome 12 73 25 20 43 58 36 54 6 15 39
De Lange Syndrome 12 25 20 43 44
Brachmann-De Lange Syndrome 25 43 58
Brachmann De Lange Syndrome 12 20 6
Cdls 25 20 43
Typus Degenerativus Amstelodamensis 20 43
Bdls 25 43
Cornelia De Lange 6

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;

Classifications:

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


Summaries for Cornelia De Lange Syndrome

MedlinePlus Genetics : 43 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 cornelia de lange syndrome 3 with or without midline brain defects. 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 Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are high palate and short neck

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.

GARD : 20 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 : 73 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 267)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 34.0 TAF6 SMC3 RAD21 NIPBL KMT2A HDAC8
2 cornelia de lange syndrome 3 with or without midline brain defects 34.0 SMC3 SMC1A NIPBL HDAC8
3 cornelia de lange syndrome 4 with or without midline brain defects 33.9 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
4 wiedemann-steiner syndrome 33.0 SMC3 SMC1A KMT2A
5 alacrima, achalasia, and mental retardation syndrome 32.0 TAF6 SETD5 KMT2A HDAC8 BRD4 ANKRD11
6 microcephaly 31.8 TAF6 STAG2 SMC1A NIPBL KMT2A HDAC8
7 familial isolated trichomegaly 31.7 SMC3 SMC1A RAD21 NIPBL KMT2A HDAC8
8 diaphragmatic hernia, congenital 31.4 SMC3 SMC1A PAPPA NIPBL
9 chromosomal triplication 31.3 PAPPA KMT2A
10 roberts-sc phocomelia syndrome 31.3 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
11 kbg syndrome 31.1 TAF6 SMC3 SMC1A SETD5 RAD21 NIPBL
12 atrial heart septal defect 31.0 SMC3 NIPBL HDAC8
13 cornelia de lange syndrome 5 12.1
14 cornelia de lange syndrome 2 12.1
15 alazami-yuan syndrome 11.4
16 trichomegaly 11.3
17 ritscher-schinzel syndrome 1 11.3
18 chops syndrome 11.3
19 cleft palate, isolated 10.8
20 gastroesophageal reflux 10.7
21 hypertrichosis 10.7
22 volvulus of midgut 10.7
23 ptosis 10.7
24 myopia 10.7
25 lacrimal duct defect 10.6
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
27 trichorhinophalangeal syndrome, type ii 10.5
28 down syndrome 10.5
29 autism 10.5
30 sensorineural hearing loss 10.5
31 heart septal defect 10.5
32 trichorhinophalangeal syndrome 10.5
33 warsaw breakage syndrome 10.5 SMC3 SMC1A RAD21 NIPBL ESCO2
34 chronic atrial and intestinal dysrhythmia 10.5 SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO2
35 syndromic intellectual disability 10.5 TAF6 STAG1 SETD5
36 eyelid disease 10.5 SMC3 SMC1A NIPBL
37 exostoses, multiple, type i 10.5
38 hypertelorism 10.5
39 aspiration pneumonia 10.5
40 autism spectrum disorder 10.5
41 blepharitis 10.5
42 autosomal dominant non-syndromic intellectual disability 10.5 SMC3 SMC1A SETD5 RAD21 NIPBL KMT2A
43 holoprosencephaly 10.5 STAG2 SMC3 SMC1A RAD21 CHRD
44 rare genetic intellectual disability 10.5 SETD5 KMT2A ANKRD11
45 strabismus 10.4
46 trichorhinophalangeal syndrome, type i 10.4
47 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.4
48 scoliosis 10.4
49 ventricular septal defect 10.4
50 mechanical strabismus 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 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
9 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
10 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
12 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
13 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
14 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
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 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
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 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
39 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
40 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
41 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
42 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
43 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
44 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
45 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.15 ANKRD11 CDCA5 CHRD CPLANE1 HDAC8 KMT2A
2 cellular MP:0005384 10.14 CHRD CPLANE1 ESCO2 HDAC8 KMT2A MAU2
3 embryo MP:0005380 10.13 ANKRD11 CDCA5 CHRD CPLANE1 ESCO2 HDAC8
4 growth/size/body region MP:0005378 10.13 ANKRD11 CHRD CPLANE1 ESCO2 HDAC8 KMT2A
5 mortality/aging MP:0010768 9.89 ANKRD11 CDCA5 CHRD CPLANE1 ESCO2 HDAC8
6 hearing/vestibular/ear MP:0005377 9.76 ANKRD11 CDCA5 CHRD CPLANE1 KMT2A MAU2
7 skeleton MP:0005390 9.4 ANKRD11 CHRD CPLANE1 HDAC8 KMT2A MAU2

Drugs & Therapeutics for Cornelia De Lange Syndrome

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
3
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
4
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
5
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
6 Angiogenesis Inhibitors Phase 1, Phase 2
7 Gastrointestinal Agents Phase 1, Phase 2
8 Hormone Antagonists Phase 1, Phase 2
9 Antineoplastic Agents, Hormonal Phase 1, Phase 2
10 Alkylating Agents Phase 1, Phase 2
11 Hormones Phase 1, Phase 2
12 Antiemetics Phase 1, Phase 2
13 glucocorticoids Phase 1, Phase 2
14 Immunologic Factors Phase 1, Phase 2
15 Anti-Inflammatory Agents Phase 1, Phase 2
16 Bendamustine Hydrochloride Phase 1, Phase 2
17 Pharmaceutical Solutions Phase 2
18 Respiratory System Agents Phase 2
19 Antidotes Phase 2
20 Antioxidants Phase 2
21 Protective Agents Phase 2
22 Expectorants Phase 2
23 N-monoacetylcystine Phase 2
24 Anti-Infective Agents Phase 2
25 Antiviral Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Study of Bendamustine, Lenalidomide and Low-dose Dexamethasone, (BdL) for the Treatment of Patients With Relapsed Myeloma. Unknown status NCT01686386 Phase 1, Phase 2 Bendamustine;Lenalidomide;Dexamethasone
2 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
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
5 Study of Prevalence and Characteristics of Hallucinations in Patients With Borderline Personality Disorder Not yet recruiting NCT03519035
6 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
Eye, Heart, Kidney, Uterus, Cerebellum, Brain, Placenta

Publications for Cornelia De Lange Syndrome

Articles related to Cornelia De Lange Syndrome:

(show top 50) (show all 933)
# 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. 54 61 6 25
17661813 2007
2
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. 6 25 61
29995837 2018
3
Phenotypes and genotypes in individuals with SMC1A variants. 61 25 6
28548707 2017
4
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 61 6 25
26386245 2015
5
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. 25 6 61
25655089 2015
6
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25 6 61
25574841 2015
7
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 61 25 6
25125236 2014
8
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 6 25
24403048 2014
9
High rate of mosaicism in individuals with Cornelia de Lange syndrome. 6 61 25
23505322 2013
10
Germline mosaicism in Cornelia de Lange syndrome. 61 25 6
22581668 2012
11
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 61 6 25
17273969 2007
12
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 6 25 61
17221863 2007
13
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 61 6 25
16236812 2006
14
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 61 6 25
16604071 2006
15
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. 6 61 25
15591270 2004
16
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 61 6 25
15318302 2004
17
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 25 6 61
15146185 2004
18
RAD21 mutations cause a human cohesinopathy. 6 25
22633399 2012
19
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
20
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
21
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 61 6
30125677 2019
22
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 6 61
30158690 2019
23
NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. 6 61
29348408 2018
24
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. 61 6
27882533 2017
25
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 61 6
26671848 2016
26
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. 6 61
26701315 2016
27
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. 6 61
26925417 2016
28
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 6 61
26725122 2016
29
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 6 61
26358754 2015
30
Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders. 6 61
26463496 2015
31
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 6 61
25447906 2015
32
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. 6 61
24635725 2014
33
Epileptic features in Cornelia de Lange syndrome: case report and literature review. 6 61
24461912 2014
34
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. 6 61
24874887 2014
35
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. 61 6
25075551 2014
36
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. 61 6
24689074 2014
37
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. 61 6
24218399 2014
38
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 6 61
24038889 2013
39
Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF. 6 61
23760082 2013
40
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 61 6
23254390 2013
41
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 6 61
22885700 2012
42
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. 6 61
22106055 2012
43
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. 61 6
22140011 2012
44
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. 6 61
20824775 2010
45
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 61 6
20635401 2010
46
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 6 61
20358602 2010
47
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 6 61
19842212 2010
48
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 6 61
19701948 2009
49
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. 61 6
19763162 2009
50
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 6 61
18996922 2009

Variations for Cornelia De Lange Syndrome

ClinVar genetic disease variations for Cornelia De Lange Syndrome:

6 (show top 50) (show all 1021)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMC1A SMC1A, 8.152-KB DEL Deletion Pathogenic 29930 GRCh37:
GRCh38:
2 HDAC8 NM_018486.3(HDAC8):c.164+5G>A SNV Pathogenic 37252 rs398122888 GRCh37: X:71791902-71791902
GRCh38: X:72572052-72572052
3 SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) Microsatellite Pathogenic 180197 rs727503773 GRCh37: X:53439900-53439902
GRCh38: X:53412950-53412952
4 SMC1A NM_001281463.1(SMC1A):c.2908-2A>G SNV Pathogenic 180198 rs727503774 GRCh37: X:53410176-53410176
GRCh38: X:53383255-53383255
5 SMC3 NM_005445.3(SMC3):c.2536-5_2541del Deletion Pathogenic 180199 rs727503775 GRCh37: 10:112360774-112360784
GRCh38: 10:110601016-110601026
6 TAF6 NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) SNV Pathogenic 180203 rs727503778 GRCh37: 7:99711697-99711697
GRCh38: 7:100114074-100114074
7 overlap with 7 genes NC_000023.10:g.71681853_72434328del752476 Deletion Pathogenic 209109 GRCh37: X:71681853-72434328
GRCh38:
8 SMC1A NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) Deletion Pathogenic 209192 rs797045069 GRCh37: X:53426526-53426526
GRCh38: X:53399604-53399604
9 RAD21 NM_006265.2(RAD21):c.592_593dup Microsatellite Pathogenic 211995 rs797045909 GRCh37: 8:117869600-117869601
GRCh38: 8:116857361-116857362
10 HDAC8 NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) SNV Pathogenic 211141 rs797045611 GRCh37: X:71788670-71788670
GRCh38: X:72568820-72568820
11 RAD21 NM_006265.2(RAD21):c.56_62del (p.Leu19fs) Deletion Pathogenic 211993 rs797045907 GRCh37: 8:117878907-117878913
GRCh38: 8:116866668-116866674
12 SMC1A NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) SNV Pathogenic 11675 rs122454123 GRCh37: X:53436051-53436051
GRCh38: X:53409120-53409120
13 SMC1A SMC1A, 15-BP DEL, NT173 Deletion Pathogenic 11674 GRCh37:
GRCh38:
14 SMC1A NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala) SNV Pathogenic 11673 rs122454122 GRCh37: X:53436060-53436060
GRCh38: X:53409129-53409129
15 SMC1A NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) Deletion Pathogenic 11672 rs1602407457 GRCh37: X:53426578-53426580
GRCh38: X:53399656-53399658
16 SMC3 NM_005445.3(SMC3):c.1461_1463AGA[1] (p.Glu488del) Microsatellite Pathogenic 4631 rs863223279 GRCh37: 10:112349701-112349703
GRCh38: 10:110589943-110589945
17 HDAC8 NM_018486.3(HDAC8):c.130_133TTGA[1] (p.Ile45fs) Microsatellite Pathogenic 211139 rs797045610 GRCh37: X:71791934-71791937
GRCh38: X:72572084-72572087
18 SMC1A NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) SNV Pathogenic 212267 rs797045993 GRCh37: X:53430549-53430549
GRCh38: X:53403617-53403617
19 RAD21 NM_006265.2(RAD21):c.579dup (p.Glu194fs) Duplication Pathogenic 211994 rs797045908 GRCh37: 8:117869614-117869615
GRCh38: 8:116857375-116857376
20 SMC1A NM_001281463.1(SMC1A):c.550-2A>G SNV Pathogenic 159962 rs587784423 GRCh37: X:53440090-53440090
GRCh38: X:53413140-53413140
21 SMC1A NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter) SNV Pathogenic 159960 rs587784421 GRCh37: X:53440250-53440250
GRCh38: X:53413300-53413300
22 SMC1A NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) SNV Pathogenic 159950 rs587784412 GRCh37: X:53430550-53430550
GRCh38: X:53403618-53403618
23 SMC1A NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) SNV Pathogenic 159947 rs587784409 GRCh37: X:53432009-53432009
GRCh38: X:53405077-53405077
24 SMC1A NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) SNV Pathogenic 159938 rs587784403 GRCh37: X:53438772-53438772
GRCh38: X:53411822-53411822
25 HDAC8 NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) Deletion Pathogenic 158658 rs587783663 GRCh37: X:71791940-71791940
GRCh38: X:72572090-72572090
26 HDAC8 NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) SNV Pathogenic 39714 rs397515418 GRCh37: X:71681858-71681858
GRCh38: X:72462008-72462008
27 HDAC8 NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) SNV Pathogenic 39713 rs398122909 GRCh37: X:71681901-71681901
GRCh38: X:72462051-72462051
28 HDAC8 NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) SNV Pathogenic 39712 rs397515417 GRCh37: X:71681927-71681927
GRCh38: X:72462077-72462077
29 HDAC8 NM_018486.3(HDAC8):c.539A>G (p.His180Arg) SNV Pathogenic 39711 rs397515416 GRCh37: X:71715017-71715017
GRCh38: X:72495167-72495167
30 SMC3 NM_005445.3(SMC3):c.703_705del (p.Thr235del) Deletion Pathogenic 217800 rs863225259 GRCh37: 10:112341836-112341838
GRCh38: 10:110582078-110582080
31 SMC3 NM_005445.3(SMC3):c.1997G>C (p.Gly666Ala) SNV Pathogenic 217804 rs863225261 GRCh37: 10:112356189-112356189
GRCh38: 10:110596431-110596431
32 SMC3 NM_005445.3(SMC3):c.139T>C (p.Phe47Leu) SNV Pathogenic 217799 rs863225258 GRCh37: 10:112335102-112335102
GRCh38: 10:110575344-110575344
33 SMC3 NM_005445.3(SMC3):c.1462G>A (p.Glu488Lys) SNV Pathogenic 217802 rs863225260 GRCh37: 10:112349702-112349702
GRCh38: 10:110589944-110589944
34 SMC3 NM_005445.3(SMC3):c.2750A>C (p.His917Pro) SNV Pathogenic 208656 rs797044861 GRCh37: 10:112361500-112361500
GRCh38: 10:110601742-110601742
35 SMC1A NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) Duplication Pathogenic 208627 rs863225459 GRCh37: X:53407606-53407607
GRCh38: X:53380685-53380686
36 SMC1A NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter) SNV Pathogenic 374391 rs1057518670 GRCh37: X:53442112-53442112
GRCh38: X:53415163-53415163
37 SMC1A NM_001281463.1(SMC1A):c.1322_1323insC (p.Glu442fs) Insertion Pathogenic 375616 rs1057519398 GRCh37: X:53436149-53436150
GRCh38: X:53409218-53409219
38 HDAC8 NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) SNV Pathogenic 433191 rs1555948969 GRCh37: X:71571613-71571613
GRCh38: X:72351763-72351763
39 RAD21 NM_006265.2(RAD21):c.181_182dup (p.Gly62fs) Duplication Pathogenic 436481 rs1554612096 GRCh37: 8:117875460-117875461
GRCh38: 8:116863221-116863222
40 HDAC8 NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter) SNV Pathogenic 446297 rs146015223 GRCh37: X:71715034-71715034
GRCh38: X:72495184-72495184
41 SMC1A NM_001281463.1(SMC1A):c.521G>A (p.Arg174His) SNV Pathogenic 532572 rs1556890815 GRCh37: X:53440210-53440210
GRCh38: X:53413260-53413260
42 RAD21 NM_006265.2(RAD21):c.208A>T (p.Lys70Ter) SNV Pathogenic 559920 rs1554612093 GRCh37: 8:117875435-117875435
GRCh38: 8:116863196-116863196
43 HDAC8 NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) Deletion Pathogenic 545414 rs1556165162 GRCh37: X:71792507-71792508
GRCh38: X:72572657-72572658
44 SMC1A NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter) SNV Pathogenic 571206 rs1569351907 GRCh37: X:53409561-53409561
GRCh38: X:53382640-53382640
45 SMC1A NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) SNV Pathogenic 521979 rs1556886034 GRCh37: X:53409515-53409515
GRCh38: X:53382594-53382594
46 overlap with 2 genes Deletion Pathogenic 584437 GRCh37: X:71790521-71833766
GRCh38: X:72570671-72613916
47 SMC1A NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) SNV Pathogenic 619027 rs1569356968 GRCh37: X:53432200-53432200
GRCh38: X:53405268-53405268
48 SMC3 NM_005445.3(SMC3):c.1067_1070AGAA[1] (p.Glu358fs) Microsatellite Pathogenic 626275 rs1590556722 GRCh37: 10:112343696-112343699
GRCh38: 10:110583938-110583941
49 SMC1A NM_006306.4(SMC1A):c.1299del (p.Lys433fs) Deletion Pathogenic 645044 rs1602411858 GRCh37: X:53436390-53436390
GRCh38: X:53409459-53409459
50 SMC1A NC_000023.10:g.(?_53430478)_(53432101_?)del Deletion Pathogenic 655221 GRCh37: X:53430478-53432101
GRCh38:

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
2
Show member pathways
12.67 STAG2 STAG1 SMC3 SMC1A RAD21 HDAC8
3
Show member pathways
12.39 STAG2 STAG1 SMC3 SMC1A RAD21
4
Show member pathways
12.29 STAG2 STAG1 SMC3 SMC1A RAD21
5 12.25 STAG2 SMC3 SMC1A RAD21
6 12.25 STAG2 SMC3 SMC1A RAD21 KMT2A BRD4
7 12.09 STAG2 STAG1 SMC3 SMC1A RAD21 HDAC8
8
Show member pathways
12.03 STAG2 STAG1 SMC3 SMC1A RAD21 HDAC8
9 11.53 STAG2 STAG1 SMC3 SMC1A RAD21
10
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 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.34 TAF6 STAG2 STAG1 SMC3 SMC1A SHOX2
2 chromatin GO:0000785 10.06 STAG2 STAG1 SMC3 SHOX2 RAD21 NIPBL
3 nucleoplasm GO:0005654 10.06 TAF6 STAG2 STAG1 SMC3 SMC1A SETD5
4 nuclear matrix GO:0016363 9.77 STAG2 STAG1 SMC3 SMC1A RAD21
5 chromosome, centromeric region GO:0000775 9.73 STAG2 STAG1 SMC3 SMC1A RAD21 CDCA5
6 condensed nuclear chromosome GO:0000794 9.67 SMC1A RAD21 BRD4
7 mitotic spindle pole GO:0097431 9.62 STAG2 STAG1 SMC3 SMC1A
8 nuclear meiotic cohesin complex GO:0034991 9.52 SMC3 RAD21
9 meiotic cohesin complex GO:0030893 9.51 SMC3 SMC1A
10 Scc2-Scc4 cohesin loading complex GO:0090694 9.48 NIPBL MAU2
11 SMC loading complex GO:0032116 9.46 NIPBL MAU2
12 chromosome GO:0005694 9.36 STAG2 STAG1 SMC3 SMC1A SETD5 RAD21
13 cohesin complex GO:0008278 9.35 STAG2 STAG1 SMC3 SMC1A RAD21

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 9.92 SMC3 SMC1A RAD21 NIPBL BRD4
2 chromatin organization GO:0006325 9.88 SETD5 KMT2A HDAC8 BRD4
3 cell division GO:0051301 9.87 STAG2 STAG1 SMC3 SMC1A RAD21 MAU2
4 cell cycle GO:0007049 9.81 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
5 meiotic cell cycle GO:0051321 9.74 STAG2 SMC3 SMC1A
6 double-strand break repair GO:0006302 9.67 RAD21 ESCO2 CDCA5
7 mitotic spindle assembly GO:0090307 9.67 STAG2 STAG1 SMC3 SMC1A
8 stem cell population maintenance GO:0019827 9.65 SMC3 SMC1A NIPBL
9 chromosome segregation GO:0007059 9.65 STAG2 STAG1 RAD21 MAU2 ESCO2
10 face morphogenesis GO:0060325 9.61 NIPBL ANKRD11
11 chromosome organization GO:0051276 9.6 SMC3 SMC1A
12 regulation of DNA replication GO:0006275 9.59 SMC3 ESCO2
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 SHOX2 CHRD
14 embryonic digestive tract morphogenesis GO:0048557 9.56 SHOX2 NIPBL
15 mitotic chromosome condensation GO:0007076 9.55 NIPBL CDCA5
16 protein localization to chromatin GO:0071168 9.54 RAD21 ESCO2
17 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.51 RAD21 NIPBL
18 regulation of cohesin loading GO:0071922 9.46 HDAC8 CDCA5
19 maintenance of mitotic sister chromatid cohesion GO:0034088 9.43 NIPBL MAU2
20 cohesin loading GO:0071921 9.4 NIPBL MAU2
21 mitotic sister chromatid cohesion GO:0007064 9.35 SMC1A RAD21 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 10.16 TAF6 STAG2 STAG1 SMC3 SMC1A SHOX2
2 lysine-acetylated histone binding GO:0070577 9.26 KMT2A BRD4
3 chromatin binding GO:0003682 9.23 STAG2 STAG1 SMC3 SMC1A RAD21 NIPBL
4 mediator complex binding GO:0036033 9.13 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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