MCID: CRN134
MIFTS: 27

Cornelia De Lange Syndrome 2

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

Aliases & Classifications for Cornelia De Lange Syndrome 2

MalaCards integrated aliases for Cornelia De Lange Syndrome 2:

Name: Cornelia De Lange Syndrome 2 53 71 13
Congenital Muscular Hypertrophy-Cerebral Syndrome 69 28
Cdls2 53 71
Cornelia De Lange Syndrome, X-Linked 53
Cornelia De Lange Syndrome X-Linked 71
Cdls, X-Linked 53

Characteristics:

OMIM:

53
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 : 53 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 congenital muscular hypertrophy-cerebral syndrome, is related to cornelia de lange syndrome and cornelia de lange syndrome 5, and has symptoms including seizures, short neck and clinodactyly. An important gene associated with Cornelia De Lange Syndrome 2 is SMC1A (Structural Maintenance Of Chromosomes 1A).

UniProtKB/Swiss-Prot : 71 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 29.1 CDL2 SMC1A
2 cornelia de lange syndrome 5 11.0

Symptoms & Phenotypes for Cornelia De Lange Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
short neck

Head And Neck Eyes:
ptosis
long eyelashes
synophrys
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:
high-arched palate
thin upper lip
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:
microcephaly
brachycephaly
micrognathia
bitemporal narrowing

Abdomen Gastroin testinal:
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

Human phenotypes related to Cornelia De Lange Syndrome 2:

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

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

Genetic tests related to Cornelia De Lange Syndrome 2:

# Genetic test Affiliating Genes
1 Congenital Muscular Hypertrophy-Cerebral Syndrome 28 SMC1A

Anatomical Context for Cornelia De Lange Syndrome 2

Publications for Cornelia De Lange Syndrome 2

Articles related to Cornelia De Lange Syndrome 2:

# Title Authors Year
1
Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events. ( 19533839 )
2009

Variations for Cornelia De Lange Syndrome 2

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

71 (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
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

ClinVar genetic disease variations for Cornelia De Lange Syndrome 2:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMC1A SMC1A, 3-BP DEL, 2493CCA deletion Pathogenic
2 SMC1A NM_006306.3(SMC1A): c.1478A> C (p.Glu493Ala) single nucleotide variant Pathogenic rs122454122 GRCh37 Chromosome X, 53436060: 53436060
3 SMC1A SMC1A, 15-BP DEL, NT173 deletion Pathogenic
4 SMC1A NM_006306.3(SMC1A): c.1487G> A (p.Arg496His) single nucleotide variant Pathogenic rs122454123 GRCh37 Chromosome X, 53436051: 53436051
5 SMC1A NM_006306.3(SMC1A): c.2351T> C (p.Ile784Thr) single nucleotide variant Pathogenic/Likely pathogenic rs387906702 GRCh37 Chromosome X, 53430567: 53430567
6 SMC1A SMC1A, 8.152-KB DEL deletion Pathogenic
7 SMC1A NM_006306.3(SMC1A): c.3557T> C (p.Val1186Ala) single nucleotide variant Likely pathogenic rs587784419 GRCh37 Chromosome X, 53407602: 53407602
8 SMC1A NM_006306.3(SMC1A): c.3254A> G (p.Tyr1085Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784418 GRCh37 Chromosome X, 53409458: 53409458
9 SMC1A NM_006306.3(SMC1A): c.3070A> T (p.Asn1024Tyr) single nucleotide variant Likely pathogenic rs587784415 GRCh37 Chromosome X, 53410078: 53410078
10 SMC1A NM_006306.3(SMC1A): c.2368C> T (p.Arg790Trp) single nucleotide variant Pathogenic rs587784412 GRCh37 Chromosome X, 53430550: 53430550
11 SMC1A NM_006306.3(SMC1A): c.2327T> A (p.Val776Glu) single nucleotide variant Likely pathogenic rs587784410 GRCh38 Chromosome X, 53403659: 53403659
12 SMC1A NM_006306.3(SMC1A): c.2131C> T (p.Arg711Trp) single nucleotide variant Pathogenic rs587784409 GRCh38 Chromosome X, 53405077: 53405077
13 SMC1A NM_006306.3(SMC1A): c.1754T> C (p.Leu585Pro) single nucleotide variant Likely pathogenic rs587784406 GRCh37 Chromosome X, 53432582: 53432582
14 SMC1A NM_006306.3(SMC1A): c.1457A> G (p.Asp486Gly) single nucleotide variant Likely pathogenic rs587784405 GRCh37 Chromosome X, 53436081: 53436081
15 SMC1A NM_006306.3(SMC1A): c.1267C> A (p.Gln423Lys) single nucleotide variant Likely pathogenic rs587784404 GRCh37 Chromosome X, 53436422: 53436422
16 SMC1A NM_006306.3(SMC1A): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs587784403 GRCh37 Chromosome X, 53438772: 53438772
17 SMC1A NM_006306.3(SMC1A): c.616-2A> G single nucleotide variant Pathogenic rs587784423 GRCh37 Chromosome X, 53440090: 53440090
18 SMC1A NM_006306.3(SMC1A): c.586C> T (p.Arg196Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784422 GRCh37 Chromosome X, 53440211: 53440211
19 SMC1A NM_006306.3(SMC1A): c.547C> T (p.Gln183Ter) single nucleotide variant Pathogenic rs587784421 GRCh37 Chromosome X, 53440250: 53440250
20 SMC1A NM_006306.3(SMC1A): c.421G> A (p.Glu141Lys) single nucleotide variant Likely pathogenic rs587784420 GRCh38 Chromosome X, 53413426: 53413426
21 SMC1A NM_006306.3(SMC1A): c.2974-2A> G single nucleotide variant Pathogenic rs727503774 GRCh38 Chromosome X, 53383255: 53383255
22 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh37 Chromosome X, 53439900: 53439902
23 SMC1A NM_006306.3(SMC1A): c.3549_3552dupGGCC (p.Ile1185Glyfs) duplication Pathogenic rs863225459 GRCh37 Chromosome X, 53407607: 53407610
24 SMC1A NM_006306.3(SMC1A): c.2853_2856delTCAG (p.Ser951Argfs) deletion Pathogenic rs863225458 GRCh37 Chromosome X, 53423153: 53423156
25 SMC1A NM_006306.3(SMC1A): c.2547delA (p.Ile849Metfs) deletion Pathogenic rs797045069 GRCh37 Chromosome X, 53426526: 53426526
26 SMC1A NM_006306.3(SMC1A): c.2369G> A (p.Arg790Gln) single nucleotide variant Pathogenic rs797045993 GRCh38 Chromosome X, 53403617: 53403617
27 SMC1A NM_006306.3(SMC1A): c.2046_2048delAGA (p.Glu684del) deletion Likely pathogenic rs797045992 GRCh38 Chromosome X, 53405255: 53405257
28 SMC1A NM_006306.3(SMC1A): c.1142_1144delAAG (p.Glu381del) deletion Likely pathogenic rs797045991 GRCh38 Chromosome X, 53411871: 53411873
29 SMC1A NM_006306.3(SMC1A): c.116C> G (p.Ser39Ter) single nucleotide variant Pathogenic rs1057518670 GRCh38 Chromosome X, 53415163: 53415163
30 SMC1A NM_006306.3(SMC1A): c.3373A> G (p.Met1125Val) single nucleotide variant Likely pathogenic rs1057519499 GRCh37 Chromosome X, 53409217: 53409217
31 SMC1A NM_006306.3(SMC1A): c.1388_1389insC (p.Glu464Glyfs) insertion Pathogenic rs1057519398 GRCh38 Chromosome X, 53409218: 53409219
32 SMC1A NM_006306.3(SMC1A): c.124A> G (p.Met42Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53442104: 53442104

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

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