CDLS1
MCID: CRN139
MIFTS: 47

Cornelia De Lange Syndrome 1 (CDLS1)

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

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 57 75 29 13 6
De Lange Syndrome 57 29
Cdls1 57 75
Typus Degenerativus Amstelodamensis 57
Amstelodamensis Typus Degenerativus 75
Cornelia De Lange Syndrome, Type 1 40
Brachmann-De Lange Syndrome; Bdls 57
Brachmann-De Lange Syndrome 57
Cdl; Cdls 57
Cdls 57
Bdls 57
Cdl 57

Characteristics:

OMIM:

57
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:

32
cornelia de lange syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Cornelia De Lange Syndrome 1

OMIM : 57 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 2. 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 Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and heart, and related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 24.3 CDL1 CPLANE1 HDAC8 KMT2A NIPBL NIPBL-DT
2 cornelia de lange syndrome 2 10.9
3 cornelia de lange syndrome 5 10.9
4 roberts syndrome 9.2 NIPBL RAD21
5 kbg syndrome 8.9 HDAC8 NIPBL RAD21
6 trehalase deficiency 8.8 CPLANE1 HDAC8 KMT2A NIPBL

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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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:
congenital diaphragmatic hernia
pneumonia

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

Human phenotypes related to Cornelia De Lange Syndrome 1:

32 (show top 50) (show all 81)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 high palate 32 HP:0000218
4 ptosis 32 HP:0000508
5 nystagmus 32 HP:0000639
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 self-injurious behavior 32 HP:0100716
9 inguinal hernia 32 HP:0000023
10 widely spaced teeth 32 HP:0000687
11 behavioral abnormality 32 HP:0000708
12 delayed skeletal maturation 32 HP:0002750
13 depressed nasal bridge 32 HP:0005280
14 delayed speech and language development 32 HP:0000750
15 microcephaly 32 HP:0000252
16 sensorineural hearing impairment 32 HP:0000407
17 anteverted nares 32 HP:0000463
18 optic atrophy 32 HP:0000648
19 short stature 32 HP:0004322
20 hypertonia 32 HP:0001276
21 gastroesophageal reflux 32 HP:0002020
22 proteinuria 32 occasional (7.5%) HP:0000093
23 brachycephaly 32 HP:0000248
24 cleft palate 32 HP:0000175
25 long philtrum 32 HP:0000343
26 micrognathia 32 HP:0000347
27 ectopic kidney 32 HP:0000086
28 strabismus 32 HP:0000486
29 delayed eruption of teeth 32 HP:0000684
30 micromelia 32 HP:0002983
31 cryptorchidism 32 HP:0000028
32 short sternum 32 HP:0000879
33 intrauterine growth retardation 32 HP:0001511
34 low posterior hairline 32 HP:0002162
35 high, narrow palate 32 HP:0002705
36 myopia 32 HP:0000545
37 thrombocytopenia 32 HP:0001873
38 hypospadias 32 HP:0000047
39 clinodactyly of the 5th finger 32 HP:0004209
40 conductive hearing impairment 32 HP:0000405
41 downturned corners of mouth 32 HP:0002714
42 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
43 renal hypoplasia 32 occasional (7.5%) HP:0000089
44 choanal atresia 32 HP:0000453
45 ventricular septal defect 32 HP:0001629
46 thin upper lip vermilion 32 HP:0000219
47 highly arched eyebrow 32 HP:0002553
48 curly eyelashes 32 HP:0007665
49 pyloric stenosis 32 HP:0002021
50 proptosis 32 HP:0000520

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome 1:

46
# 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 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Agents Phase 2, Phase 3,Not Applicable
3 Adrenergic Antagonists Phase 2, Phase 3,Not Applicable
4 Adrenergic beta-Antagonists Phase 2, Phase 3,Not Applicable
5 Neurotransmitter Agents Phase 2, Phase 3,Not Applicable
6 Anti-Arrhythmia Agents Phase 2, Phase 3,Not Applicable
7 Vasodilator Agents Phase 2, Phase 3,Not Applicable
8 Antihypertensive Agents Phase 2, Phase 3,Not Applicable
9
Ciprofloxacin Approved, Investigational 85721-33-1 2764
10
Verapamil Approved Not Applicable 52-53-9 2520
11
Amiodarone Approved, Investigational Not Applicable 1951-25-3 2157
12
Everolimus Approved Not Applicable 159351-69-6 6442177
13
Paclitaxel Approved, Vet_approved Not Applicable 33069-62-4 36314
14
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
15
Digoxin Approved Not Applicable 20830-75-5 30322 2724385
16
Sirolimus Approved, Investigational Not Applicable 53123-88-9 5284616 6436030 46835353
17 calcium channel blockers Not Applicable
18 Adrenergic beta-1 Receptor Antagonists Not Applicable
19 Albumin-Bound Paclitaxel Not Applicable
20 Sodium Channel Blockers Not Applicable
21 Sympatholytics Not Applicable
22 Cystatins
23 Cytochrome P-450 CYP1A2 Inhibitors ,Not Applicable
24 Cytochrome P-450 CYP2C9 Inhibitors Not Applicable
25 Cytochrome P-450 CYP2D6 Inhibitors Not Applicable
26 Cytochrome P-450 CYP3A Inhibitors Not Applicable
27 Cytochrome P-450 Enzyme Inhibitors ,Not Applicable
28 Topoisomerase Inhibitors
29 Diuretics, Potassium Sparing Not Applicable
30 Peripheral Nervous System Agents Not Applicable
31 Anti-Bacterial Agents
32 Potassium Channel Blockers Not Applicable
33 Anti-Infective Agents
34 Protective Agents Not Applicable
35 Autonomic Agents Not Applicable
36 Calcium, Dietary Not Applicable
37 leucine Nutraceutical Not Applicable
38 Cola Nutraceutical Not Applicable

Interventional clinical trials:

(show all 16)
# 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 Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
3 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069 Not Applicable
4 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277 Not Applicable
5 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
6 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Recruiting NCT01538550 Not Applicable
9 Post-Market Clinical-Follow-Up Study of Suprasorb® C Collagen Wound Dressing Recruiting NCT03444597
10 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
11 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920 Not Applicable
12 OrthoIllustrated Web Based Orthopaedic Sports Medicine Registry Recruiting NCT01191151
13 The PREVAIL Study Recruiting NCT03260517 Not Applicable
14 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473 Not Applicable
15 PRESSUREwire Study Recruiting NCT02935088
16 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 Not Applicable Pharmacological cardioversion - Flecainide;Metoprolol;Verapamil;Digoxin;Pharmacological cardioversion - Amiodarone

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 29 HDAC8 RAD21
2 Cornelia De Lange Syndrome 1 29 NIPBL

Anatomical Context for Cornelia De Lange Syndrome 1

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

41
Kidney, Colon, Heart

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

# Title Authors Year
1
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. ( 19522788 )
2009

Variations for Cornelia De Lange Syndrome 1

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

75 (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 624)
# 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 NIPBL, 1-BP DEL, 150G deletion Pathogenic
6 NIPBL NIPBL, 1-BP INS, 7306G insertion Pathogenic
7 NIPBL NIPBL, 1-BP INS, 1546G insertion Pathogenic
8 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
9 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh38 Chromosome 5, 37001030: 37001032
10 NIPBL NIPBL, 2-BP DEL, 2479AG deletion Pathogenic
11 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
12 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh38 Chromosome 5, 37020615: 37020615
13 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
14 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh38 Chromosome 5, 37002734: 37002734
15 NIPBL NIPBL, IVS45AS, G-C, -1 single nucleotide variant Pathogenic
16 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
17 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
18 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh38 Chromosome 5, 37014728: 37014728
19 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
20 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh38 Chromosome 5, 36876937: 36876938
21 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
22 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh38 Chromosome 5, 36985659: 36985660
23 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
24 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh38 Chromosome 5, 36985782: 36985782
25 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
26 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh38 Chromosome 5, 36985806: 36985806
27 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
28 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh38 Chromosome 5, 37022256: 37022256
29 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
30 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh38 Chromosome 5, 37051871: 37051871
31 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
32 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh38 Chromosome 5, 37052522: 37052522
33 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
34 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh38 Chromosome 5, 37064854: 37064854
35 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
36 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh38 Chromosome 5, 37008053: 37008062
37 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
38 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh38 Chromosome 5, 36955540: 36955540
39 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
40 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh38 Chromosome 5, 36976352: 36976355
41 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
42 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh38 Chromosome 5, 36955599: 36955599
43 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
44 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh38 Chromosome 5, 37000513: 37000513
45 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
46 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh38 Chromosome 5, 37010176: 37010176
47 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
48 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh38 Chromosome 5, 37017048: 37017049
49 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh37 Chromosome 5, 37022374: 37022374
50 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh38 Chromosome 5, 37022272: 37022272

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 sister chromatid cohesion GO:0007062 9.26 HDAC8 RAD21
2 double-strand break repair GO:0006302 9.16 NIPBL RAD21
3 chromatin organization GO:0006325 9.13 HDAC8 KMT2A TAF6
4 cognition GO:0050890 8.62 KMT2A NIPBL

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.92 HDAC8 KMT2A NIPBL RAD21

Sources for Cornelia De Lange Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....