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, Smell/Taste diseases

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 56 12 73 29 13 6
De Lange Syndrome 56 29 6
Cdls1 56 73
Typus Degenerativus Amstelodamensis 56
Amstelodamensis Typus Degenerativus 73
Cornelia De Lange Syndrome, Type 1 39
Brachmann-De Lange Syndrome; Bdls 56
Brachmann-De Lange Syndrome 56
Cdl; Cdls 56
Cdls 56
Bdls 56
Cdl 56

Characteristics:

OMIM:

56
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:

31
cornelia de lange syndrome 1:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Cornelia De Lange Syndrome 1

OMIM : 56 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 familial isolated trichomegaly and chromosome 16p13.3 deletion syndrome, proximal. 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 Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, 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 : 73 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

Diseases related to Cornelia De Lange Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 260)
# Related Disease Score Top Affiliating Genes
1 familial isolated trichomegaly 29.8 RAD21 NIPBL HDAC8
2 chromosome 16p13.3 deletion syndrome, proximal 29.7 NIPBL HDAC8
3 sc phocomelia syndrome 29.6 RAD21 NIPBL
4 roberts syndrome 29.4 RAD21 NIPBL HDAC8
5 kbg syndrome 28.8 TAF6 RAD21 NIPBL HDAC8
6 microcephaly 27.9 TAF6 NIPBL KMT2A HDAC8
7 cornelia de lange syndrome 27.5 TAF6 RAD21 NIPBL KMT2A HDAC8 CPLANE1
8 cornelia de lange syndrome 4 with or without midline brain defects 13.0
9 wiedemann-steiner syndrome 11.8
10 calvarial doughnut lesions with bone fragility 11.7
11 alazami-yuan syndrome 11.7
12 trichomegaly 11.3
13 ritscher-schinzel syndrome 1 11.3
14 chops syndrome 11.3
15 cornelia de lange syndrome 2 11.3
16 cornelia de lange syndrome 5 11.3
17 adenoma 10.6
18 cholestasis 10.6
19 gastroesophageal reflux 10.5
20 cleft palate, isolated 10.5
21 hypertrichosis 10.5
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
23 joint laxity, short stature, and myopia 10.4
24 myopia 10.4
25 volvulus of midgut 10.4
26 ptosis 10.4
27 portal hypertension 10.4
28 retinitis pigmentosa 11 10.4
29 autism 10.3
30 chromosomal triplication 10.3
31 dwarfism 10.3
32 liver disease 10.3
33 diaphragmatic hernia, congenital 10.3
34 sensorineural hearing loss 10.3
35 heart septal defect 10.3
36 cornelia de lange syndrome 3 with or without midline brain defects 10.3
37 polyhydramnios 10.3
38 trichorhinophalangeal syndrome 10.3
39 lacrimal duct defect 10.3
40 down syndrome 10.3
41 aspiration pneumonia 10.3
42 autism spectrum disorder 10.3
43 blepharitis 10.3
44 fibrosis of extraocular muscles, congenital, 1 10.2
45 liver cirrhosis 10.2
46 trichorhinophalangeal syndrome, type ii 10.2
47 scoliosis 10.2
48 ventricular septal defect 10.2
49 exostoses, multiple, type i 10.2
50 hypertelorism 10.2

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:

31 (show top 50) (show all 83)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 occasional (7.5%) HP:0000093
2 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
3 renal hypoplasia 31 occasional (7.5%) HP:0000089
4 renal cyst 31 occasional (7.5%) HP:0000107
5 intellectual disability 31 HP:0001249
6 delayed skeletal maturation 31 HP:0002750
7 depressed nasal bridge 31 HP:0005280
8 inguinal hernia 31 HP:0000023
9 short neck 31 HP:0000470
10 behavioral abnormality 31 HP:0000708
11 widely spaced teeth 31 HP:0000687
12 delayed speech and language development 31 HP:0000750
13 microcephaly 31 HP:0000252
14 sensorineural hearing impairment 31 HP:0000407
15 anteverted nares 31 HP:0000463
16 optic atrophy 31 HP:0000648
17 short stature 31 HP:0004322
18 hypertonia 31 HP:0001276
19 gastroesophageal reflux 31 HP:0002020
20 brachycephaly 31 HP:0000248
21 nystagmus 31 HP:0000639
22 strabismus 31 HP:0000486
23 cleft palate 31 HP:0000175
24 cryptorchidism 31 HP:0000028
25 short sternum 31 HP:0000879
26 intrauterine growth retardation 31 HP:0001511
27 high palate 31 HP:0000218
28 micrognathia 31 HP:0000347
29 low-set ears 31 HP:0000369
30 low posterior hairline 31 HP:0002162
31 high, narrow palate 31 HP:0002705
32 ectopic kidney 31 HP:0000086
33 ptosis 31 HP:0000508
34 myopia 31 HP:0000545
35 thrombocytopenia 31 HP:0001873
36 elbow flexion contracture 31 HP:0002987
37 delayed eruption of teeth 31 HP:0000684
38 conductive hearing impairment 31 HP:0000405
39 downturned corners of mouth 31 HP:0002714
40 clinodactyly of the 5th finger 31 HP:0004209
41 cleft upper lip 31 HP:0000204
42 choanal atresia 31 HP:0000453
43 highly arched eyebrow 31 HP:0002553
44 thin upper lip vermilion 31 HP:0000219
45 long philtrum 31 HP:0000343
46 self-injurious behavior 31 HP:0100716
47 proptosis 31 HP:0000520
48 otitis media 31 HP:0000388
49 hypospadias 31 HP:0000047
50 ventricular septal defect 31 HP:0001629

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nostrils

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

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:
thin upper lip
cleft lip/palate
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

Head And Neck Head:
microcephaly
brachycephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
pyloric stenosis

Head And Neck Face:
micrognathia
long philtrum

Head And Neck Eyes:
ptosis
myopia
synophrys
long curly eyelashes

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

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 CPLANE1 HDAC8 KMT2A NIPBL
2 embryo MP:0005380 9.46 CPLANE1 HDAC8 KMT2A NIPBL
3 hearing/vestibular/ear MP:0005377 9.13 CPLANE1 KMT2A NIPBL
4 mortality/aging MP:0010768 9.1 CPLANE1 HDAC8 KMT2A NIPBL RAD21 TAF6

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of N-Acetylcysteine (NAC) in the Treatment of Repetitive Behaviors (RB) and Self-Injurious Behaviors (SIB) in Cornelia de Lange Syndrome: A Randomized Double-Blind Placebo-Controlled Pilot Study Not yet recruiting NCT04381897 Phase 2 N-acetyl cysteine
2 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study. Terminated NCT03113877

Search NIH Clinical Center for Cornelia De Lange Syndrome 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:

40
Heart, Kidney, Brain, Colon, Bone, Eye, Whole Blood

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

(show top 50) (show all 897)
# Title Authors PMID Year
1
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 56 6 61
15146185 2004
2
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 56 61 6
15146186 2004
3
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. 61 6 56
11391654 2001
4
Cornelia de Lange syndrome. 56 61
25209348 2015
5
High rate of mosaicism in individuals with Cornelia de Lange syndrome. 56 61
23505322 2013
6
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. 61 56
22241092 2012
7
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. 61 56
22069164 2011
8
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. 56 61
20583156 2010
9
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 61 56
20358602 2010
10
Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. 61 56
19764039 2009
11
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. 61 56
19449412 2009
12
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome. 61 56
18203151 2008
13
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 56 61
17661813 2007
14
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. 6 61
16799922 2006
15
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. 56 61
16770807 2006
16
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 61 56
16236812 2006
17
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 56 61
16604071 2006
18
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. 56 61
16075459 2005
19
Cornelia de Lange Syndrome 6 61
20301283 2005
20
Anomalies of the kidney and urinary tract are common in de Lange syndrome. 61 56
15633188 2005
21
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 6 61
15318302 2004
22
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. 56 61
15168106 2004
23
An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance. 56 61
14564211 2003
24
Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. 61 56
12784293 2003
25
Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. 56 61
11754058 2001
26
Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. 56 61
11471176 2001
27
An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters. 61 56
11837608 2001
28
Behavioural phenotype of Cornelia de Lange syndrome. 56 61
10490439 1999
29
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. 61 56
10480362 1999
30
De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. 56 61
9279756 1997
31
Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype. 56 61
8914746 1996
32
Identical twin discordance for the Brachmann-de Lange syndrome revisited. 56 61
8737652 1996
33
Brachmann-de Lange syndrome: pre- and postnatal findings. 61 56
8882785 1996
34
A further report of Brachmann-de Lange syndrome in two sibs with normal parents. 61 56
7554368 1995
35
Male-to-male transmission of mild Brachmann-de Lange syndrome. 56 61
7528973 1994
36
Historical study: Cornelia C. de Lange (1871-1950)--a pioneer in clinical genetics. 61 56
7810555 1994
37
Brachmann-de Lange syndrome "avant la lettre". 56 61
7810556 1994
38
Thrombocytopenia in the Brachmann-de Lange syndrome. 61 56
8209903 1994
39
Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome. 56 61
8291512 1993
40
Radiological features in Brachmann-de Lange syndrome. 56 61
8291513 1993
41
Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs. 61 56
8291514 1993
42
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. 61 56
8291515 1993
43
Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome. 56 61
8291516 1993
44
Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome. 56 61
8291518 1993
45
Fetal biometry in the Brachmann-de Lange syndrome. 61 56
8291520 1993
46
Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature. 61 56
8291524 1993
47
Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype. 61 56
8291525 1993
48
de Lange syndrome: a clinical review of 310 individuals. 61 56
8291537 1993
49
Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. 61 56
8291538 1993
50
Brachmann-de Lange syndrome. Delineation of the clinical phenotype. 56 61
8291539 1993

Variations for Cornelia De Lange Syndrome 1

ClinVar genetic disease variations for Cornelia De Lange Syndrome 1:

6 (show top 50) (show all 471) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NIPBL NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)deletion Pathogenic 436012 rs1554017345 5:36985743-36985746 5:36985641-36985644
2 NIPBL NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter)SNV Pathogenic 436014 rs1554017661 5:36986389-36986389 5:36986287-36986287
3 NIPBL NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter)SNV Pathogenic 436009 rs1554020997 5:37002797-37002797 5:37002695-37002695
4 NIPBL NM_133433.4(NIPBL):c.6262_6263TG[1] (p.His2087_Cys2088insTer)short repeat Pathogenic 436015 rs1554031864 5:37044750-37044753 5:37044648-37044651
5 NIPBL NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)duplication Pathogenic 436010 rs1554032085 5:37045600-37045601 5:37045498-37045499
6 NIPBL NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu)SNV Pathogenic 446367 rs1554032789 5:37048649-37048649 5:37048547-37048547
7 NIPBL NC_000005.10:g.(?_37038582)_(37038758_?)deldeletion Pathogenic 476580 5:37038582-37038758
8 NIPBL NM_133433.4(NIPBL):c.169del (p.Arg57fs)deletion Pathogenic 476584 rs1554011046 5:36955678-36955678 5:36955576-36955576
9 NIPBL NM_133433.4(NIPBL):c.3248del (p.Pro1083fs)deletion Pathogenic 476587 rs1554019698 5:36995849-36995849 5:36995747-36995747
10 NIPBL NM_133433.4(NIPBL):c.2595dup (p.Leu866fs)duplication Pathogenic 476585 rs1554017441 5:36985874-36985875 5:36985772-36985773
11 NIPBL NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs)insertion Pathogenic 476594 rs1554030285 5:37038818-37038819 5:37038716-37038717
12 NIPBL NM_133433.4(NIPBL):c.6589+5G>ASNV Pathogenic 476595 rs1554032266 5:37046306-37046306 5:37046204-37046204
13 NIPBL NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter)SNV Pathogenic 476586 rs1554019667 5:36995750-36995750 5:36995648-36995648
14 NIPBL NM_133433.4(NIPBL):c.1145del (p.Asn382fs)deletion Pathogenic 476581 rs1554015145 5:36976151-36976151 5:36976049-36976049
15 NIPBL NM_133433.4(NIPBL):c.4686del (p.Phe1562fs)deletion Pathogenic 476591 rs1554023967 5:37016180-37016180 5:37016078-37016078
16 NIPBL NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)SNV Pathogenic 521020 rs1554015303 5:36976444-36976444 5:36976342-36976342
17 NIPBL NM_133433.4(NIPBL):c.459-2A>GSNV Pathogenic 523203 rs1561083229 5:36962223-36962223 5:36962121-36962121
18 NIPBL NC_000005.10:g.(?_37044327)_(37049321_?)deldeletion Pathogenic 543053 5:37044429-37049423 5:37044327-37049321
19 NIPBL NM_133433.4(NIPBL):c.3304+1G>ASNV Pathogenic 543051 rs1554019712 5:36995907-36995907 5:36995805-36995805
20 NIPBL NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter)SNV Pathogenic 543048 rs1554032954 5:37049245-37049245 5:37049143-37049143
21 NIPBL NM_133433.4(NIPBL):c.1956dup (p.Gln653fs)duplication Pathogenic 543049 rs1554017175 5:36985235-36985236 5:36985133-36985134
22 NIPBL NM_133433.4(NIPBL):c.7702del (p.Ser2568fs)deletion Pathogenic 543047 rs1554035266 5:37060962-37060962 5:37060860-37060860
23 NIPBL NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile)SNV Pathogenic 558736 rs1554025796 5:37022485-37022485 5:37022383-37022383
24 NIPBL NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter)SNV Pathogenic 572591 rs1561102868 5:36976460-36976460 5:36976358-36976358
25 NIPBL NM_133433.4(NIPBL):c.6998del (p.Ala2333fs)deletion Pathogenic 567873 rs1561214997 5:37051924-37051924 5:37051822-37051822
26 NIPBL NC_000005.10:g.(?_36877164)_(37064912_?)deldeletion Pathogenic 583693 5:36877266-37065014 5:36877164-37064912
27 NIPBL NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter)SNV Pathogenic 580541 rs1561145912 5:37006591-37006591 5:37006489-37006489
28 NIPBL NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)SNV Pathogenic 627581 rs866740147 5:37000609-37000609 5:37000507-37000507
29 NIPBL NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)SNV Pathogenic 664886 5:37000625-37000625 5:37000523-37000523
30 NIPBL NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)deletion Pathogenic 651452 5:37006497-37006497 5:37006395-37006395
31 NIPBL NM_133433.4(NIPBL):c.2120del (p.Gly707fs)deletion Pathogenic 662787 5:36985400-36985400 5:36985298-36985298
32 NIPBL NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)deletion Pathogenic 647925 5:36995855-36995855 5:36995753-36995753
33 NIPBL NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter)SNV Pathogenic 662635 5:37010317-37010317 5:37010215-37010215
34 NIPBL NM_133433.4(NIPBL):c.1320del (p.Asn440fs)deletion Pathogenic 666576 5:36976329-36976329 5:36976227-36976227
35 NIPBL NM_133433.4(NIPBL):c.2291del (p.Asn764fs)deletion Pathogenic 692070 5:36985572-36985572 5:36985470-36985470
36 HDAC8 NM_018486.3(HDAC8):c.1112-4_1116deldeletion Pathogenic 694678 X:71549922-71549930 X:72330072-72330080
37 NIPBL NM_133433.4(NIPBL):c.230+5G>ASNV Pathogenic 642705 5:36955744-36955744 5:36955642-36955642
38 NIPBL NM_133433.4(NIPBL):c.226del (p.His76fs)deletion Pathogenic 802112 5:36955735-36955735 5:36955633-36955633
39 NIPBL NM_133433.4(NIPBL):c.64+2_64+134deldeletion Pathogenic 841447 5:36953863-36953995 5:36953761-36953893
40 NIPBL NC_000005.10:g.(?_36953616)_(37017182_?)deldeletion Pathogenic 832382 5:36953718-37017284
41 NIPBL NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs)duplication Pathogenic 2142 rs1561222491 5:37057329-37057330 5:37057227-37057228
42 NIPBL NM_133433.4(NIPBL):c.1547dup (p.Ala517fs)duplication Pathogenic 2143 rs1554016981 5:36984824-36984825 5:36984722-36984723
43 NIPBL NM_133433.4(NIPBL):c.150del (p.Asn51fs)deletion Pathogenic 2141 rs1554011042 5:36955659-36955659 5:36955557-36955557
44 NIPBL NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)deletion Pathogenic 96336 rs398124465 5:36985761-36985762 5:36985659-36985660
45 NIPBL NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)SNV Pathogenic 96337 rs398124466 5:36985884-36985884 5:36985782-36985782
46 NIPBL NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)SNV Pathogenic 96344 rs80358362 5:37022358-37022358 5:37022256-37022256
47 NIPBL NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)SNV Pathogenic 96352 rs398124471 5:37052624-37052624 5:37052522-37052522
48 NIPBL NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)SNV Pathogenic 96355 rs398124474 5:37064956-37064956 5:37064854-37064854
49 NIPBL NM_133433.4(NIPBL):c.192del (p.Gln64fs)deletion Pathogenic 99923 rs80358364 5:36955701-36955701 5:36955599-36955599
50 NIPBL NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)SNV Pathogenic 159103 rs587783937 5:36953801-36953801 5:36953699-36953699

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

73 (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

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 RAD21 NIPBL

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 nucleoplasm GO:0005654 9.55 TAF6 RAD21 NIPBL KMT2A HDAC8
2 chromatin GO:0000785 9.26 RAD21 NIPBL
3 nuclear chromosome GO:0000228 8.96 NIPBL HDAC8
4 MLL1 complex GO:0071339 8.62 TAF6 KMT2A

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

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.43 TAF6 RAD21 KMT2A
2 double-strand break repair GO:0006302 9.16 RAD21 NIPBL
3 chromatin organization GO:0006325 9.13 TAF6 KMT2A HDAC8
4 sister chromatid cohesion GO:0007062 8.62 RAD21 HDAC8

Sources for Cornelia De Lange Syndrome 1

3 CDC
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11 DGIdb
17 EFO
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72 UMLS via Orphanet
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