CDLS1
MCID: CRN139
MIFTS: 57

Cornelia De Lange Syndrome 1 (CDLS1)

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

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 58 12 76 30 13 6
De Lange Syndrome 58 30 6
Cdls1 58 76
Typus Degenerativus Amstelodamensis 58
Amstelodamensis Typus Degenerativus 76
Cornelia De Lange Syndrome, Type 1 41
Brachmann-De Lange Syndrome; Bdls 58
Brachmann-De Lange Syndrome 58
Cdl; Cdls 58
Cdls 58
Bdls 58
Cdl 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
many cases due to de novo mutation or chromosome aberration
empiric risk for a sib of an affected child between 2 and 5%
prevalence of 0.6 to 10 per 100,000 individuals


HPO:

33
cornelia de lange syndrome 1:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Cornelia De Lange Syndrome 1

OMIM : 58 The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010). Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. (122470)

MalaCards based summary : Cornelia De Lange Syndrome 1, also known as de lange syndrome, is related to cornelia de lange syndrome and cornelia de lange syndrome 4. An important gene associated with Cornelia De Lange Syndrome 1 is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways is Mitotic Telophase/Cytokinesis. The drugs Propranolol and Adrenergic Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are proteinuria and vesicoureteral reflux

Disease Ontology : 12 A Cornelia de Lange syndrome that has material basis in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.

UniProtKB/Swiss-Prot : 76 Cornelia de Lange syndrome 1: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

Related Diseases for Cornelia De Lange Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 27.3 CDL1 CPLANE1 HDAC8 KMT2A NIPBL NIPBL-DT
2 cornelia de lange syndrome 4 12.8
3 alazami-yuan syndrome 11.6
4 calvarial doughnut lesions with bone fragility 11.4
5 ritscher-schinzel syndrome 1 11.2
6 cornelia de lange syndrome 2 11.1
7 cornelia de lange syndrome 5 11.1
8 heart disease 10.3
9 intestinal volvulus 10.3
10 diaphragmatic hernia, congenital 10.2
11 portal hypertension 10.2
12 kbg syndrome 10.2
13 cornelia de lange syndrome 3 10.2
14 trichorhinophalangeal syndrome, type ii 10.2
15 autism 10.2
16 thrombocytopenia 10.2
17 coats disease 10.1
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
19 dwarfism 10.1
20 hypertension, essential 10.1
21 liver cirrhosis 10.1
22 acute pancreatitis 10.1
23 pancreatitis 10.1
24 gastroesophageal reflux 10.0
25 cleft palate, isolated 10.0
26 down syndrome 10.0
27 barrett esophagus 10.0
28 sacrococcygeal teratoma 10.0
29 autism spectrum disorder 10.0
30 epilepsy 10.0
31 germinoma 10.0
32 teratoma 10.0
33 dystonia 10.0
34 trichorhinophalangeal syndrome 10.0
35 chromosomal triplication 10.0
36 ring chromosome 3 10.0
37 xp22.3 microdeletion syndrome 10.0
38 aniridia 1 9.9
39 aortic valve disease 1 9.9
40 coarctation of aorta 9.9
41 hypertelorism 9.9
42 otitis media 9.9
43 pancreas, annular 9.9
44 silver-russell syndrome 9.9
45 septooptic dysplasia 9.9
46 anus, imperforate 9.9
47 cerebellar hypoplasia 9.9
48 pituitary hormone deficiency, combined, 2 9.9
49 coffin-lowry syndrome 9.9
50 aging 9.9

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 1:



Diseases related to Cornelia De Lange Syndrome 1

Symptoms & Phenotypes for Cornelia De Lange Syndrome 1

Human phenotypes related to Cornelia De Lange Syndrome 1:

33 (show top 50) (show all 83)
# Description HPO Frequency HPO Source Accession
1 proteinuria 33 occasional (7.5%) HP:0000093
2 vesicoureteral reflux 33 occasional (7.5%) HP:0000076
3 renal hypoplasia 33 occasional (7.5%) HP:0000089
4 renal cyst 33 occasional (7.5%) HP:0000107
5 low-set ears 33 HP:0000369
6 short neck 33 HP:0000470
7 high palate 33 HP:0000218
8 ptosis 33 HP:0000508
9 nystagmus 33 HP:0000639
10 intellectual disability 33 HP:0001249
11 seizures 33 HP:0001250
12 self-injurious behavior 33 HP:0100716
13 inguinal hernia 33 HP:0000023
14 widely spaced teeth 33 HP:0000687
15 behavioral abnormality 33 HP:0000708
16 delayed skeletal maturation 33 HP:0002750
17 depressed nasal bridge 33 HP:0005280
18 delayed speech and language development 33 HP:0000750
19 microcephaly 33 HP:0000252
20 sensorineural hearing impairment 33 HP:0000407
21 anteverted nares 33 HP:0000463
22 optic atrophy 33 HP:0000648
23 short stature 33 HP:0004322
24 hypertonia 33 HP:0001276
25 gastroesophageal reflux 33 HP:0002020
26 brachycephaly 33 HP:0000248
27 cleft palate 33 HP:0000175
28 long philtrum 33 HP:0000343
29 micrognathia 33 HP:0000347
30 ectopic kidney 33 HP:0000086
31 strabismus 33 HP:0000486
32 delayed eruption of teeth 33 HP:0000684
33 micromelia 33 HP:0002983
34 cryptorchidism 33 HP:0000028
35 short sternum 33 HP:0000879
36 intrauterine growth retardation 33 HP:0001511
37 low posterior hairline 33 HP:0002162
38 high, narrow palate 33 HP:0002705
39 myopia 33 HP:0000545
40 thrombocytopenia 33 HP:0001873
41 elbow flexion contracture 33 HP:0002987
42 hypospadias 33 HP:0000047
43 clinodactyly of the 5th finger 33 HP:0004209
44 conductive hearing impairment 33 HP:0000405
45 downturned corners of mouth 33 HP:0002714
46 choanal atresia 33 HP:0000453
47 ventricular septal defect 33 HP:0001629
48 thin upper lip vermilion 33 HP:0000219
49 otitis media 33 HP:0000388
50 highly arched eyebrow 33 HP:0002553

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
sensorineural hearing loss
conductive hearing loss to due otitis media

Head And Neck Eyes:
ptosis
myopia
synophrys
long curly eyelashes

Head And Neck Teeth:
widely spaced teeth
late-erupting teeth

Head And Neck Head:
microcephaly
brachycephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
pyloric stenosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
cutis marmorata
single transverse palmar crease

Skeletal Limbs:
phocomelia
limited elbow extension
dislocation of the radial head

Head And Neck Mouth:
cleft lip/palate
thin upper lip
high arched palate
downturned corners of the mouth

Neurologic Central Nervous System:
mental retardation
language delay
hypertonicity

Genitourinary External Genitalia Male:
hypoplastic male genitalia

Skeletal Feet:
syndactyly of toes 2 and 3

Head And Neck Neck:
short neck

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

Head And Neck Nose:
depressed nasal bridge
anteverted nostrils

Growth Height:
short stature
prenatal growth retardation
specific growth curves are available

Head And Neck Face:
long philtrum
micrognathia

Respiratory Lung:
pneumonia
congenital diaphragmatic hernia

Skeletal Hands:
oligodactyly
single transverse palmar crease
fifth finger clinodactyly
proximally placed thumbs

Skin Nails Hair Hair:
hirsutism
low posterior hair line

Cardiovascular Heart:
congenital heart defect

Chest Breasts:
small nipples

Genitourinary Kidneys:
structural anomalies of the renal tract
absent/poor corticomedullary differentiation (some patients)
pelvic dilation (some patients)
vesicoureteral reflux (rare)
small kidney (rare)
more
Voice:
low-pitched, growling cry in infancy

Clinical features from OMIM:

122470

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 CPLANE1 HDAC8 KMT2A NIPBL

Drugs & Therapeutics for Cornelia De Lange Syndrome 1

Drugs for Cornelia De Lange Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Antagonists Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Adrenergic Agents Phase 2, Phase 3
5 Adrenergic beta-Antagonists Phase 2, Phase 3
6 Anti-Arrhythmia Agents Phase 2, Phase 3
7 Antihypertensive Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9
Piperacillin Approved 66258-76-2 43672
10
Tazobactam Approved 89786-04-9 123630
11
Sirolimus Approved, Investigational Not Applicable 53123-88-9 46835353 5284616 6436030
12 Nutrients Not Applicable
13 leucine Not Applicable
14 Piperacillin, Tazobactam Drug Combination
15 Cystatins
16 Anti-Bacterial Agents
17 Anti-Infective Agents
18 beta-Lactamase Inhibitors

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Unknown status NCT02724865 Phase 4
2 The Effects of Propranolol on Fear of Tooth or Molar Extraction Unknown status NCT02268357 Phase 2, Phase 3 Propranolol
3 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069 Not Applicable
4 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Terminated NCT03113877
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Post-Market Clinical-Follow-Up Study of Suprasorb® C Collagen Wound Dressing Recruiting NCT03444597
7 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277 Not Applicable
8 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
9 Pharmacokinetics of Piperacillin and Tazobactam in Critically Ill Patients Recruiting NCT03738683 Piperacillin/tazobactam
10 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920 Not Applicable
11 Web Based Orthopaedic Sports Medicine Registry Recruiting NCT01191151
12 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473 Not Applicable

Search NIH Clinical Center for Cornelia De Lange Syndrome 1

Genetic Tests for Cornelia De Lange Syndrome 1

Genetic tests related to Cornelia De Lange Syndrome 1:

# Genetic test Affiliating Genes
1 De Lange Syndrome 30 HDAC8 RAD21
2 Cornelia De Lange Syndrome 1 30 NIPBL

Anatomical Context for Cornelia De Lange Syndrome 1

MalaCards organs/tissues related to Cornelia De Lange Syndrome 1:

42
Kidney, Heart, Bone, Brain, Eye, Colon, Whole Blood

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

(show top 50) (show all 565)
# Title Authors Year
1
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients. ( 30606125 )
2019
2
Cornelia de Lange syndrome in diverse populations. ( 30614194 )
2019
3
Ophthalmologic findings in the Cornelia de Lange syndrome. ( 30767692 )
2019
4
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype. ( 30806031 )
2019
5
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018. ( 30874362 )
2019
6
Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. ( 30879238 )
2019
7
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant. ( 30890023 )
2019
8
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia. ( 30948435 )
2019
9
Diphenhydramine-Refractory Antipsychotic-Induced Dystonia in an Adolescent Male With Cornelia de Lange Syndrome. ( 31019410 )
2019
10
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation. ( 30239720 )
2019
11
Cornelia De Lange Syndrome and Cochlear Implantation. ( 30560105 )
2018
12
Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling. ( 30515000 )
2018
13
Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects. ( 30470439 )
2018
14
Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country. ( 30271468 )
2018
15
A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn. ( 30246735 )
2018
16
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort. ( 30240081 )
2018
17
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. ( 30125677 )
2018
18
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome. ( 30057591 )
2018
19
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. ( 29995837 )
2018
20
A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome. ( 29991052 )
2018
21
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. ( 29860495 )
2018
22
Endometrial Carcinoma With an Unusual Morphology in a Patient With Cornelia de Lange Syndrome: A Case Study. ( 29620584 )
2018
23
A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype. ( 29531005 )
2018
24
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome. ( 29452578 )
2018
25
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. ( 29279609 )
2018
26
Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome. ( 29217785 )
2018
27
Novel mosaic variants in two patients with Cornelia de Lange syndrome. ( 29155047 )
2018
28
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome. ( 28826797 )
2018
29
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. ( 28102598 )
2017
30
Cornelia de Lange syndrome: specific features for prenatal diagnosis. ( 26480950 )
2017
31
Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome. ( 29507843 )
2017
32
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome. ( 29162129 )
2017
33
An experimental study of executive function and social impairment in Cornelia de Lange syndrome. ( 28889797 )
2017
34
Cornelia de lange syndrome with thyroid agenesis of an indonesian patient. ( 28886330 )
2017
35
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. ( 28855971 )
2017
36
Cornelia de Lange syndrome: What every otolaryngologist should know. ( 28846791 )
2017
37
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28814979 )
2017
38
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. ( 28806899 )
2017
39
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3. ( 28781842 )
2017
40
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts. ( 28752682 )
2017
41
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome. ( 28679547 )
2017
42
Cornelia de Lange syndrome: Congenital heart disease in 149 patients. ( 28629661 )
2017
43
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. ( 28588001 )
2017
44
Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? ( 28544538 )
2017
45
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. ( 28425213 )
2017
46
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome. ( 28241484 )
2017
47
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. ( 28190301 )
2017
48
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. ( 28125439 )
2017
49
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. ( 28120103 )
2017
50
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017

Variations for Cornelia De Lange Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 1:

76 (show all 38)
# Symbol AA change Variation ID SNP ID
1 NIPBL p.Cys1311Arg VAR_019519
2 NIPBL p.Leu1348Arg VAR_019520
3 NIPBL p.Tyr2430Cys VAR_019521 rs121918265
4 NIPBL p.Ala1246Gly VAR_021598 rs121918268
5 NIPBL p.Leu1312Pro VAR_021599
6 NIPBL p.Arg1789Leu VAR_021600
7 NIPBL p.Asp1803Val VAR_021601
8 NIPBL p.Arg1856Thr VAR_021602
9 NIPBL p.Arg2298Cys VAR_021603 rs80358376
10 NIPBL p.Arg2298His VAR_021604 rs587784024
11 NIPBL p.Gly2312Arg VAR_021605
12 NIPBL p.Gly2381Ala VAR_021606
13 NIPBL p.Ala2390Thr VAR_021607 rs587784036
14 NIPBL p.Tyr2440His VAR_021608
15 NIPBL p.Gly2081Ala VAR_064545 rs587784000
16 NIPBL p.Ser2090Ile VAR_064546
17 NIPBL p.Leu2150Pro VAR_064547
18 NIPBL p.Gly15Arg VAR_072996
19 NIPBL p.Pro29Gln VAR_072997
20 NIPBL p.Asn70Ile VAR_072998
21 NIPBL p.Ser111Thr VAR_073000
22 NIPBL p.Ala179Ser VAR_073001
23 NIPBL p.Ala179Thr VAR_073002 rs142923613
24 NIPBL p.Pro192Leu VAR_073003
25 NIPBL p.Asp246Gly VAR_073004 rs587784042
26 NIPBL p.Leu254Val VAR_073005
27 NIPBL p.Pro351Thr VAR_073006
28 NIPBL p.Lys357Asn VAR_073007
29 NIPBL p.Arg868Gln VAR_073008 rs149629686
30 NIPBL p.Glu1207Lys VAR_073009
31 NIPBL p.His1343Pro VAR_073010
32 NIPBL p.Val1441Leu VAR_073011 rs727503769
33 NIPBL p.Val1625Phe VAR_073012
34 NIPBL p.Ile1637Leu VAR_073013
35 NIPBL p.Asn1722His VAR_073014
36 NIPBL p.Cys2091Phe VAR_073015
37 NIPBL p.Gly2312Val VAR_073017 rs587784025
38 NIPBL p.Asp2433Asn VAR_073018

ClinVar genetic disease variations for Cornelia De Lange Syndrome 1:

6 (show top 50) (show all 675)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh37 Chromosome 5, 36953800: 36953800
2 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh38 Chromosome 5, 36953698: 36953698
3 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh37 Chromosome 5, 37057313: 37057313
4 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh38 Chromosome 5, 37057211: 37057211
5 NIPBL NM_015384.4(NIPBL): c.150del (p.Asn51Thrfs) deletion Pathogenic rs1554011042 GRCh38 Chromosome 5, 36955557: 36955557
6 NIPBL NM_015384.4(NIPBL): c.150del (p.Asn51Thrfs) deletion Pathogenic rs1554011042 GRCh37 Chromosome 5, 36955659: 36955659
7 NIPBL NM_015384.4(NIPBL): c.7306dup (p.Ala2436Glyfs) duplication Pathogenic GRCh37 Chromosome 5, 37057330: 37057330
8 NIPBL NM_015384.4(NIPBL): c.7306dup (p.Ala2436Glyfs) duplication Pathogenic GRCh38 Chromosome 5, 37057228: 37057228
9 NIPBL NM_133433.3(NIPBL): c.1547dup (p.Ala517Cysfs) duplication Pathogenic rs1554016981 GRCh38 Chromosome 5, 36984727: 36984727
10 NIPBL NM_133433.3(NIPBL): c.1547dup (p.Ala517Cysfs) duplication Pathogenic rs1554016981 GRCh37 Chromosome 5, 36984829: 36984829
11 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
12 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh38 Chromosome 5, 37001030: 37001032
13 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
14 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh38 Chromosome 5, 37020615: 37020615
15 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
16 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh38 Chromosome 5, 37002734: 37002734
17 NIPBL NM_015384.4(NIPBL): c.7861-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 5, 37063789: 37063789
18 NIPBL NM_015384.4(NIPBL): c.7861-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37063891: 37063891
19 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
20 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
21 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh38 Chromosome 5, 37014728: 37014728
22 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
23 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh38 Chromosome 5, 36876937: 36876938
24 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh38 Chromosome 5, 37064854: 37064854
25 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
26 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh38 Chromosome 5, 37052522: 37052522
27 NIPBL NM_133433.3(NIPBL): c.5378T> G (p.Met1793Arg) single nucleotide variant Uncertain significance rs483353060 GRCh38 Chromosome 5, 37022100: 37022100
28 NIPBL NM_133433.3(NIPBL): c.5378T> G (p.Met1793Arg) single nucleotide variant Uncertain significance rs483353060 GRCh37 Chromosome 5, 37022202: 37022202
29 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
30 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh38 Chromosome 5, 36953699: 36953699
31 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
32 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh38 Chromosome 5, 36953761: 36953761
33 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
34 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh38 Chromosome 5, 36953763: 36953763
35 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh37 Chromosome 5, 36953867: 36953867
36 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh38 Chromosome 5, 36953765: 36953765
37 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Pathogenic/Likely pathogenic rs587784012 GRCh37 Chromosome 5, 36955569: 36955569
38 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Pathogenic/Likely pathogenic rs587784012 GRCh38 Chromosome 5, 36955467: 36955467
39 NIPBL NM_133433.3(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
40 NIPBL NM_133433.3(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh38 Chromosome 5, 36955493: 36955493
41 NIPBL NM_133433.3(NIPBL): c.6362_6364del (p.Lys2121del) deletion Likely pathogenic rs587784008 GRCh38 Chromosome 5, 37045461: 37045463
42 NIPBL NM_133433.3(NIPBL): c.6478G> T (p.Asp2160Tyr) single nucleotide variant Likely pathogenic rs147054690 GRCh37 Chromosome 5, 37045679: 37045679
43 NIPBL NM_133433.3(NIPBL): c.6478G> T (p.Asp2160Tyr) single nucleotide variant Likely pathogenic rs147054690 GRCh38 Chromosome 5, 37045577: 37045577
44 NIPBL NM_133433.3(NIPBL): c.6565C> T (p.Gln2189Ter) single nucleotide variant Pathogenic rs587784013 GRCh37 Chromosome 5, 37046277: 37046277
45 NIPBL NM_133433.3(NIPBL): c.6565C> T (p.Gln2189Ter) single nucleotide variant Pathogenic rs587784013 GRCh38 Chromosome 5, 37046175: 37046175
46 NIPBL NM_133433.3(NIPBL): c.6568A> G (p.Thr2190Ala) single nucleotide variant Uncertain significance rs587784014 GRCh37 Chromosome 5, 37046280: 37046280
47 NIPBL NM_133433.3(NIPBL): c.6568A> G (p.Thr2190Ala) single nucleotide variant Uncertain significance rs587784014 GRCh38 Chromosome 5, 37046178: 37046178
48 NIPBL NM_133433.3(NIPBL): c.6571A> T (p.Lys2191Ter) single nucleotide variant Pathogenic rs587784015 GRCh37 Chromosome 5, 37046283: 37046283
49 NIPBL NM_133433.3(NIPBL): c.6571A> T (p.Lys2191Ter) single nucleotide variant Pathogenic rs587784015 GRCh38 Chromosome 5, 37046181: 37046181
50 NIPBL NM_133433.3(NIPBL): c.6589+9A> T single nucleotide variant Conflicting interpretations of pathogenicity rs370709104 GRCh37 Chromosome 5, 37046310: 37046310

Expression for Cornelia De Lange Syndrome 1

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 1.

Pathways for Cornelia De Lange Syndrome 1

Pathways related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.04 NIPBL RAD21

GO Terms for Cornelia De Lange Syndrome 1

Cellular components related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.16 NIPBL RAD21
2 nuclear chromosome GO:0000228 8.96 HDAC8 NIPBL
3 MLL1 complex GO:0071339 8.62 KMT2A TAF6

Biological processes related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 HDAC8 KMT2A NIPBL
2 transcription by RNA polymerase II GO:0006366 9.32 KMT2A TAF6
3 double-strand break repair GO:0006302 9.16 NIPBL RAD21
4 chromatin organization GO:0006325 9.13 HDAC8 KMT2A TAF6
5 sister chromatid cohesion GO:0007062 8.62 HDAC8 RAD21

Sources for Cornelia De Lange Syndrome 1

3 CDC
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