CDLS2
MCID: CRN134
MIFTS: 31

Cornelia De Lange Syndrome 2 (CDLS2)

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 2

MalaCards integrated aliases for Cornelia De Lange Syndrome 2:

Name: Cornelia De Lange Syndrome 2 56 12 73 13
Cdls2 56 73
Congenital Muscular Hypertrophy-Cerebral Syndrome 71
Cornelia De Lange Syndrome, X-Linked 56
Cornelia De Lange Syndrome X-Linked 73
Cornelia De Lange Syndrome, Type 2 39
Cdls, X-Linked 56

Characteristics:

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
female mutation carriers are less severely affected than male mutation carriers


HPO:

31
cornelia de lange syndrome 2:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 2

OMIM : 56 Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (608667) on chromosome 5p13 (CDLS1; 122470) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. (300590)

MalaCards based summary : Cornelia De Lange Syndrome 2, also known as cdls2, is related to cornelia de lange syndrome 5 and cornelia de lange syndrome 1. An important gene associated with Cornelia De Lange Syndrome 2 is SMC1A (Structural Maintenance Of Chromosomes 1A). Affiliated tissues include eye and bone, and related phenotypes are seizures and hypertrophic cardiomyopathy

Disease Ontology : 12 A Cornelia de Lange syndrome that has material basis in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.

UniProtKB/Swiss-Prot : 73 Cornelia de Lange syndrome 2: 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 2

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

# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 5 11.3
2 cornelia de lange syndrome 1 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 cornelia de lange syndrome 10.2

Symptoms & Phenotypes for Cornelia De Lange Syndrome 2

Human phenotypes related to Cornelia De Lange Syndrome 2:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
3 short neck 31 HP:0000470
4 clinodactyly 31 HP:0030084
5 intellectual disability 31 HP:0001249
6 ptosis 31 HP:0000508
7 high palate 31 HP:0000218
8 global developmental delay 31 HP:0001263
9 brachydactyly 31 HP:0001156
10 short stature 31 HP:0004322
11 micrognathia 31 HP:0000347
12 downslanted palpebral fissures 31 HP:0000494
13 intrauterine growth retardation 31 HP:0001511
14 microcephaly 31 HP:0000252
15 smooth philtrum 31 HP:0000319
16 anteverted nares 31 HP:0000463
17 thick eyebrow 31 HP:0000574
18 gastroesophageal reflux 31 HP:0002020
19 cognitive impairment 31 HP:0100543
20 brachycephaly 31 HP:0000248
21 narrow forehead 31 HP:0000341
22 highly arched eyebrow 31 HP:0002553
23 short foot 31 HP:0001773
24 postnatal growth retardation 31 HP:0008897
25 ventriculomegaly 31 HP:0002119
26 prominent nasal bridge 31 HP:0000426
27 small hand 31 HP:0200055
28 thin upper lip vermilion 31 HP:0000219
29 poor speech 31 HP:0002465
30 synophrys 31 HP:0000664
31 downturned corners of mouth 31 HP:0002714
32 limited elbow movement 31 HP:0002996
33 low anterior hairline 31 HP:0000294
34 long eyelashes 31 HP:0000527
35 proximal placement of thumb 31 HP:0009623
36 cutis marmorata 31 HP:0000965
37 hirsutism 31 HP:0001007

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Eyes:
ptosis
synophrys
long eyelashes
downslanting palpebral fissures
thick eyebrows
more
Head And Neck Nose:
anteverted nares
high nasal bridge

Neurologic Central Nervous System:
cognitive impairment
poor speech
enlarged ventricles
delayed psychomotor development
seizures (in some patients)

Skin Nails Hair Hair:
low anterior hairline
hirsutism

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

Skeletal Feet:
small feet

Cardiovascular Heart:
hypertrophic cardiomyopathy (1 patient)

Skeletal Hands:
clinodactyly
brachydactyly
proximally placed thumbs
small hands

Head And Neck Head:
micrognathia
microcephaly
brachycephaly
bitemporal narrowing

Abdomen Gastrointestinal:
gastroesophageal reflux

Skeletal Limbs:
limited elbow movement

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Face:
long, smooth philtrum

Growth Other:
pre- and postnatal growth retardation

Clinical features from OMIM:

300590

Drugs & Therapeutics for Cornelia De Lange Syndrome 2

Search Clinical Trials , NIH Clinical Center for Cornelia De Lange Syndrome 2

Genetic Tests for Cornelia De Lange Syndrome 2

Anatomical Context for Cornelia De Lange Syndrome 2

MalaCards organs/tissues related to Cornelia De Lange Syndrome 2:

40
Eye, Bone

Publications for Cornelia De Lange Syndrome 2

Articles related to Cornelia De Lange Syndrome 2:

# Title Authors PMID Year
1
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. 56 6
22106055 2012
2
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 56 6
20635401 2010
3
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 56 6
16604071 2006
4
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
5
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 56
20358602 2010
6
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 6
18996922 2009
7
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 6
17273969 2007
8
Cornelia de Lange Syndrome 6
20301283 2005
9
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2019
10
Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events. 61
19533839 2009

Variations for Cornelia De Lange Syndrome 2

ClinVar genetic disease variations for Cornelia De Lange Syndrome 2:

6 (show top 50) (show all 100) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMC1A NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp)SNV Pathogenic 159947 rs587784409 X:53432009-53432009 X:53405077-53405077
2 SMC1A NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln)SNV Pathogenic 159938 rs587784403 X:53438772-53438772 X:53411822-53411822
3 SMC1A NM_001281463.1(SMC1A):c.550-2A>GSNV Pathogenic 159962 rs587784423 X:53440090-53440090 X:53413140-53413140
4 SMC1A NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys)SNV Pathogenic 159961 rs587784422 X:53440211-53440211 X:53413261-53413261
5 SMC1A NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter)SNV Pathogenic 159960 rs587784421 X:53440250-53440250 X:53413300-53413300
6 SMC1A NM_001281463.1(SMC1A):c.3483_3486dup (p.Ile1163fs)duplication Pathogenic 208627 rs863225459 X:53407606-53407607 X:53380685-53380686
7 SMC1A NM_001281463.1(SMC1A):c.2787_2790del (p.Ser929fs)deletion Pathogenic 208626 rs863225458 X:53423153-53423156 X:53396233-53396236
8 SMC1A NM_001281463.1(SMC1A):c.2481del (p.Ile827fs)deletion Pathogenic 209192 rs797045069 X:53426526-53426526 X:53399604-53399604
9 SMC1A NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln)SNV Pathogenic 212267 rs797045993 X:53430549-53430549 X:53403617-53403617
10 SMC1A NM_001281463.1(SMC1A):c.2427_2429del (p.Asp809_Gln810delinsGlu)deletion Pathogenic 11672 X:53426578-53426580 X:53399656-53399658
11 SMC1A NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala)SNV Pathogenic 11673 rs122454122 X:53436060-53436060 X:53409129-53409129
12 SMC1A SMC1A, 15-BP DEL, NT173deletion Pathogenic 11674
13 SMC1A NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His)SNV Pathogenic 11675 rs122454123 X:53436051-53436051 X:53409120-53409120
14 SMC1A NM_001281463.1(SMC1A):c.2908-2A>GSNV Pathogenic 180198 rs727503774 X:53410176-53410176 X:53383255-53383255
15 SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del)short repeat Pathogenic 180197 rs727503773 X:53439900-53439902 X:53412950-53412952
16 SMC1A SMC1A, 8.152-KB DELdeletion Pathogenic 29930
17 SMC1A NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter)SNV Pathogenic 374391 rs1057518670 X:53442112-53442112 X:53415163-53415163
18 SMC1A NM_001281463.1(SMC1A):c.1322_1323insC (p.Glu442fs)insertion Pathogenic 375616 rs1057519398 X:53436149-53436150 X:53409218-53409219
19 SMC1A NM_001281463.1(SMC1A):c.2328dup (p.Arg777fs)duplication Pathogenic 523209 rs1569356555 X:53430523-53430524 X:53403591-53403592
20 SMC1A NM_001281463.1(SMC1A):c.1048-2A>GSNV Pathogenic 523213 rs1569358628 X:53438853-53438853 X:53411903-53411903
21 SMC1A NM_001281463.1(SMC1A):c.589del (p.Ala197fs)deletion Pathogenic 523208 rs1569359048 X:53440049-53440049 X:53413099-53413099
22 SMC1A NM_001281463.1(SMC1A):c.521G>A (p.Arg174His)SNV Pathogenic 532572 rs1556890815 X:53440210-53440210 X:53413260-53413260
23 SMC1A NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter)SNV Pathogenic 532569 rs1556886124 X:53410045-53410045 X:53383124-53383124
24 SMC1A NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter)SNV Pathogenic 571206 rs1569351907 X:53409561-53409561 X:53382640-53382640
25 SMC1A NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter)SNV Pathogenic 619027 rs1569356968 X:53432200-53432200 X:53405268-53405268
26 SMC1A NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)duplication Pathogenic 655878 X:53421798-53421799 X:53394878-53394879
27 SMC1A NM_006306.4(SMC1A):c.1299del (p.Lys433fs)deletion Pathogenic 645044 X:53436390-53436390 X:53409459-53409459
28 SMC1A NC_000023.10:g.(?_53430478)_(53432101_?)deldeletion Pathogenic 655221 X:53430478-53432101
29 SMC1A NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)SNV Pathogenic 804005 X:53410126-53410126 X:53383205-53383205
30 SMC1A NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)duplication Pathogenic 804006 X:53423194-53423195 X:53396274-53396275
31 SMC1A NM_006306.4(SMC1A):c.615+2T>CSNV Pathogenic 804008 X:53440180-53440180 X:53413230-53413230
32 SMC1A NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)SNV Pathogenic 807691 X:53407949-53407949 X:53381028-53381028
33 SMC1A NM_006306.4(SMC1A):c.1781_1784TGAT[1] (p.Ile595fs)short repeat Pathogenic 807692 X:53432548-53432551 X:53405616-53405619
34 SMC1A NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His)SNV Pathogenic/Likely pathogenic 521979 rs1556886034 X:53409515-53409515 X:53382594-53382594
35 SMC1A NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr)SNV Pathogenic/Likely pathogenic 29929 rs387906702 X:53430567-53430567 X:53403635-53403635
36 SMC1A NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys)SNV Pathogenic/Likely pathogenic 159956 rs587784418 X:53409458-53409458 X:53382537-53382537
37 SMC1A NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp)SNV Pathogenic/Likely pathogenic 159950 rs587784412 X:53430550-53430550 X:53403618-53403618
38 SMC1A NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr)SNV Likely pathogenic 159953 rs587784415 X:53410078-53410078 X:53383157-53383157
39 SMC1A NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu)SNV Likely pathogenic 159948 rs587784410 X:53430591-53430591 X:53403659-53403659
40 SMC1A NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala)SNV Likely pathogenic 159958 rs587784419 X:53407602-53407602 X:53380681-53380681
41 SMC1A NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly)SNV Likely pathogenic 159941 rs587784405 X:53436081-53436081 X:53409150-53409150
42 SMC1A NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys)SNV Likely pathogenic 159940 rs587784404 X:53436422-53436422 X:53409491-53409491
43 SMC1A NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro)SNV Likely pathogenic 159944 rs587784406 X:53432582-53432582 X:53405650-53405650
44 SMC1A NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del)deletion Likely pathogenic 212266 rs797045992 X:53432187-53432189 X:53405255-53405257
45 SMC1A NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del)short repeat Likely pathogenic 212265 rs797045991 X:53438821-53438823 X:53411871-53411873
46 SMC1A NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys)SNV Likely pathogenic 159959 rs587784420 X:53440376-53440376 X:53413426-53413426
47 SMC1A NM_001281463.1(SMC1A):c.3402T>G (p.Asp1134Glu)SNV Likely pathogenic 522900 rs1556885815 X:53407978-53407978 X:53381057-53381057
48 SMC1A NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His)SNV Likely pathogenic 523210 rs1569356550 X:53430498-53430498 X:53403566-53403566
49 SMC1A NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val)SNV Likely pathogenic 375462 rs1057519499 X:53409217-53409217 X:53382296-53382296
50 SMC1A NM_001281463.1(SMC1A):c.58A>G (p.Met20Val)SNV Likely pathogenic 437413 rs1556891104 X:53442104-53442104 X:53415155-53415155

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 2:

73 (show all 20)
# Symbol AA change Variation ID SNP ID
1 SMC1A p.Glu493Ala VAR_026529 rs122454122
2 SMC1A p.Phe133Val VAR_062786
3 SMC1A p.Glu141Lys VAR_062787 rs587784420
4 SMC1A p.Arg196His VAR_062788 rs155689081
5 SMC1A p.Arg398Gln VAR_062791 rs587784403
6 SMC1A p.Arg496Cys VAR_062792
7 SMC1A p.Arg496His VAR_062793 rs122454123
8 SMC1A p.Arg693Gly VAR_062795
9 SMC1A p.Arg711Trp VAR_062796 rs587784409
10 SMC1A p.Cys781Phe VAR_062797
11 SMC1A p.Arg790Gln VAR_062798 rs797045993
12 SMC1A p.Arg816Gly VAR_062799
13 SMC1A p.Arg1049Gln VAR_062800 rs587784416
14 SMC1A p.Tyr1085Cys VAR_062801 rs587784418
15 SMC1A p.Phe1122Leu VAR_062802
16 SMC1A p.Arg1123Trp VAR_062803
17 SMC1A p.Arg711Gln VAR_064542 rs782176647
18 SMC1A p.Ile784Thr VAR_064543 rs387906702
19 SMC1A p.Arg398Gly VAR_078274
20 SMC1A p.Arg693Gln VAR_078276 rs587784408

Expression for Cornelia De Lange Syndrome 2

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 2.

Pathways for Cornelia De Lange Syndrome 2

GO Terms for Cornelia De Lange Syndrome 2

Sources for Cornelia De Lange Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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