MCID: CRN134
MIFTS: 28

Cornelia De Lange Syndrome 2

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

Aliases & Classifications for Cornelia De Lange Syndrome 2

MalaCards integrated aliases for Cornelia De Lange Syndrome 2:

Name: Cornelia De Lange Syndrome 2 54 71 13
Congenital Muscular Hypertrophy-Cerebral Syndrome 69
Cornelia De Lange Syndrome X-Linked 71
Cdls2 71

Characteristics:

OMIM:

54
Inheritance:
x-linked dominant

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


HPO:

32
cornelia de lange syndrome 2:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 2

OMIM : 54
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 smc1a-related cornelia de lange syndrome and cornelia de lange syndrome 5, and has symptoms including short stature, long eyelashes and brachydactyly. An important gene associated with Cornelia De Lange Syndrome 2 is SMC1A (Structural Maintenance Of Chromosomes 1A). The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder.

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

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 2:



Diseases related to Cornelia De Lange Syndrome 2

Symptoms & Phenotypes for Cornelia De Lange Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal- Hands:
brachydactyly
small hands
clinodactyly
proximally placed thumbs

Skin Nails & Hair- Hair:
hirsutism
low anterior hairline

Head And Neck- Nose:
anteverted nares
high nasal bridge

Head And Neck- Neck:
short neck

Skeletal- Feet:
small feet

Skeletal- Limbs:
limited elbow movement

Cardiovascular- Heart:
hypertrophic cardiomyopathy (1 patient)

Head And Neck- Eyes:
thick eyebrows
long eyelashes
downslanting palpebral fissures
ptosis
arched eyebrows
more
Neurologic- Central Nervous System:
delayed psychomotor development
seizures (in some patients)
cognitive impairment
poor speech
enlarged ventricles

Head And Neck- Head:
microcephaly
micrognathia
bitemporal narrowing
brachycephaly

Abdomen- Gastroin testinal:
gastroesophageal reflux

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:

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

Drugs & Therapeutics for Cornelia De Lange Syndrome 2

Drugs for Cornelia De Lange Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id 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
3 Adrenergic Antagonists Phase 2, Phase 3
4 Adrenergic beta-Antagonists Phase 2, Phase 3
5 Anti-Arrhythmia Agents Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 PRESSUREwire Study Recruiting NCT02935088

Search 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

Publications for Cornelia De Lange Syndrome 2

Articles related to Cornelia De Lange Syndrome 2:

id 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)
id 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 35)
id 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 SMC1A, 8.152-KB DEL deletion Pathogenic
6 SMC1A NM_006306.3(SMC1A): c.2351T> C (p.Ile784Thr) single nucleotide variant Pathogenic/Likely pathogenic rs387906702 GRCh37 Chromosome X, 53430567: 53430567
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 rs587784418 GRCh37 Chromosome X, 53409458: 53409458
9 SMC1A NM_006306.3(SMC1A): c.3146G> A (p.Arg1049Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784416 GRCh37 Chromosome X, 53409566: 53409566
10 SMC1A NM_006306.3(SMC1A): c.3070A> T (p.Asn1024Tyr) single nucleotide variant Likely pathogenic rs587784415 GRCh37 Chromosome X, 53410078: 53410078
11 SMC1A NM_006306.3(SMC1A): c.2368C> T (p.Arg790Trp) single nucleotide variant Pathogenic rs587784412 GRCh37 Chromosome X, 53430550: 53430550
12 SMC1A NM_006306.3(SMC1A): c.2327T> A (p.Val776Glu) single nucleotide variant Likely pathogenic rs587784410 GRCh37 Chromosome X, 53430591: 53430591
13 SMC1A NM_006306.3(SMC1A): c.2131C> T (p.Arg711Trp) single nucleotide variant Pathogenic rs587784409 GRCh37 Chromosome X, 53432009: 53432009
14 SMC1A NM_006306.3(SMC1A): c.2078G> A (p.Arg693Gln) single nucleotide variant Likely pathogenic rs587784408 GRCh37 Chromosome X, 53432062: 53432062
15 SMC1A NM_006306.3(SMC1A): c.1877G> A (p.Arg626His) single nucleotide variant Likely pathogenic rs587784407 GRCh37 Chromosome X, 53432459: 53432459
16 SMC1A NM_006306.3(SMC1A): c.1754T> C (p.Leu585Pro) single nucleotide variant Likely pathogenic rs587784406 GRCh37 Chromosome X, 53432582: 53432582
17 SMC1A NM_006306.3(SMC1A): c.1457A> G (p.Asp486Gly) single nucleotide variant Likely pathogenic rs587784405 GRCh37 Chromosome X, 53436081: 53436081
18 SMC1A NM_006306.3(SMC1A): c.1267C> A (p.Gln423Lys) single nucleotide variant Likely pathogenic rs587784404 GRCh37 Chromosome X, 53436422: 53436422
19 SMC1A NM_006306.3(SMC1A): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs587784403 GRCh37 Chromosome X, 53438772: 53438772
20 SMC1A NM_006306.3(SMC1A): c.616-2A> G single nucleotide variant Pathogenic rs587784423 GRCh37 Chromosome X, 53440090: 53440090
21 SMC1A NM_006306.3(SMC1A): c.586C> T (p.Arg196Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784422 GRCh37 Chromosome X, 53440211: 53440211
22 SMC1A NM_006306.3(SMC1A): c.547C> T (p.Gln183Ter) single nucleotide variant Pathogenic rs587784421 GRCh37 Chromosome X, 53440250: 53440250
23 SMC1A NM_006306.3(SMC1A): c.421G> A (p.Glu141Lys) single nucleotide variant Likely pathogenic rs587784420 GRCh37 Chromosome X, 53440376: 53440376
24 SMC1A NM_006306.3(SMC1A): c.2974-2A> G single nucleotide variant Pathogenic rs727503774 GRCh38 Chromosome X, 53383255: 53383255
25 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh37 Chromosome X, 53439900: 53439902
26 SMC1A NM_006306.3(SMC1A): c.3549_3552dupGGCC (p.Ile1185Glyfs) duplication Pathogenic rs863225459 GRCh37 Chromosome X, 53407607: 53407610
27 SMC1A NM_006306.3(SMC1A): c.2853_2856delTCAG (p.Ser951Argfs) deletion Pathogenic rs863225458 GRCh37 Chromosome X, 53423153: 53423156
28 SMC1A NM_006306.3(SMC1A): c.2547delA (p.Ile849Metfs) deletion Pathogenic rs797045069 GRCh37 Chromosome X, 53426526: 53426526
29 SMC1A NM_006306.3(SMC1A): c.2369G> A (p.Arg790Gln) single nucleotide variant Pathogenic rs797045993 GRCh38 Chromosome X, 53403617: 53403617
30 SMC1A NM_006306.3(SMC1A): c.2046_2048delAGA (p.Glu684del) deletion Likely pathogenic rs797045992 GRCh38 Chromosome X, 53405255: 53405257
31 SMC1A NM_006306.3(SMC1A): c.1142_1144delAAG (p.Glu381del) deletion Likely pathogenic rs797045991 GRCh38 Chromosome X, 53411871: 53411873
32 SMC1A NM_006306.3(SMC1A): c.116C> G (p.Ser39Ter) single nucleotide variant Pathogenic rs1057518670 GRCh37 Chromosome X, 53442112: 53442112
33 SMC1A NM_006306.3(SMC1A): c.3373A> G (p.Met1125Val) single nucleotide variant Likely pathogenic rs1057519499 GRCh37 Chromosome X, 53409217: 53409217
34 SMC1A NM_006306.3(SMC1A): c.1388_1389insC (p.Glu464Glyfs) insertion Pathogenic rs1057519398 GRCh38 Chromosome X, 53409218: 53409219
35 SMC1A NM_006306.3(SMC1A): c.124A> G (p.Met42Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53415155: 53415155

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....