MCID: CRN135
MIFTS: 22

Cornelia De Lange Syndrome 3

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

Aliases & Classifications for Cornelia De Lange Syndrome 3

MalaCards integrated aliases for Cornelia De Lange Syndrome 3:

Name: Cornelia De Lange Syndrome 3 57 75 29 13 6 73
Cdls3 57 75
Cornelia De Lange Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

32
cornelia de lange syndrome 3:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 3

UniProtKB/Swiss-Prot : 75 Cornelia de Lange syndrome 3: 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. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation.

MalaCards based summary : Cornelia De Lange Syndrome 3, is also known as cdls3. An important gene associated with Cornelia De Lange Syndrome 3 is SMC3 (Structural Maintenance Of Chromosomes 3). Affiliated tissues include heart, and related phenotypes are short neck and high palate

OMIM : 57 Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. (610759)

Related Diseases for Cornelia De Lange Syndrome 3

Symptoms & Phenotypes for Cornelia De Lange Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
brachycephaly

Skeletal Limbs:
limited elbow movement

Head And Neck Eyes:
long eyelashes
synophrys
thick eyebrows
arched eyebrows
ptosis (in some patients)

Head And Neck Nose:
anteverted nostrils
bulbous nasal tip
depressed nasal bridge (in some patients)

Head And Neck Mouth:
thin upper lip
downturned corners of the mouth
high-arched palate (in some patients)

Head And Neck Face:
long, smooth philtrum
micrognathia (in some patients)

Abdomen Gastrointestinal:
gastroesophageal reflux disease

Skin Nails Hair Skin:
cutis marmorata (in some patients)

Neurologic Central Nervous System:
cognitive impairment
poor speech
delayed psychomotor development

Skeletal Hands:
brachydactyly
small hands

Skin Nails Hair Hair:
hirsutism
thick hair
low anterior hairline (in some patients)

Cardiovascular Heart:
pulmonary valve stenosis
septal defects
congenital heart defects

Head And Neck Neck:
short neck (in some patients)

Skeletal Feet:
small feet

Head And Neck Teeth:
dental anomalies (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
social demeanor


Clinical features from OMIM:

610759

Human phenotypes related to Cornelia De Lange Syndrome 3:

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 short neck 32 occasional (7.5%) HP:0000470
2 high palate 32 HP:0000218
3 ptosis 32 occasional (7.5%) HP:0000508
4 intellectual disability 32 HP:0001249
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 occasional (7.5%) HP:0005280
7 abnormality of the dentition 32 occasional (7.5%) HP:0000164
8 microcephaly 32 HP:0000252
9 anteverted nares 32 HP:0000463
10 thick eyebrow 32 HP:0000574
11 short stature 32 HP:0004322
12 gastroesophageal reflux 32 HP:0002020
13 feeding difficulties in infancy 32 HP:0008872
14 cognitive impairment 32 HP:0100543
15 brachycephaly 32 HP:0000248
16 micrognathia 32 occasional (7.5%) HP:0000347
17 short foot 32 HP:0001773
18 myopia 32 HP:0000545
19 prominent nasal bridge 32 HP:0000426
20 clinodactyly of the 5th finger 32 HP:0004209
21 small hand 32 HP:0200055
22 limited elbow movement 32 HP:0002996
23 brachydactyly 32 HP:0001156
24 downturned corners of mouth 32 HP:0002714
25 bulbous nose 32 HP:0000414
26 thin upper lip vermilion 32 HP:0000219
27 low anterior hairline 32 occasional (7.5%) HP:0000294
28 pulmonic stenosis 32 HP:0001642
29 highly arched eyebrow 32 HP:0002553
30 thin vermilion border 32 HP:0000233
31 long eyelashes 32 HP:0000527
32 synophrys 32 HP:0000664
33 proximal placement of thumb 32 HP:0009623
34 cutis marmorata 32 occasional (7.5%) HP:0000965
35 hirsutism 32 HP:0001007
36 poor speech 32 HP:0002465
37 thick hair 32 HP:0100874
38 abnormal cardiac septum morphology 32 HP:0001671

Drugs & Therapeutics for Cornelia De Lange Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cornelia De Lange Syndrome 3

Genetic Tests for Cornelia De Lange Syndrome 3

Genetic tests related to Cornelia De Lange Syndrome 3:

# Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 3 29 SMC3

Anatomical Context for Cornelia De Lange Syndrome 3

MalaCards organs/tissues related to Cornelia De Lange Syndrome 3:

41
Heart

Publications for Cornelia De Lange Syndrome 3

Variations for Cornelia De Lange Syndrome 3

ClinVar genetic disease variations for Cornelia De Lange Syndrome 3:

6
(show top 50) (show all 80)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMC3 NM_005445.3(SMC3): c.1464_1466delAGA (p.Glu488del) deletion Pathogenic rs863223279 GRCh37 Chromosome 10, 112349704: 112349706
2 SMC3 NM_005445.3(SMC3): c.1464_1466delAGA (p.Glu488del) deletion Pathogenic rs863223279 GRCh38 Chromosome 10, 110589946: 110589948
3 SMC3 NM_005445.3(SMC3): c.255A> G (p.Ser85=) single nucleotide variant Conflicting interpretations of pathogenicity rs146433240 GRCh37 Chromosome 10, 112337235: 112337235
4 SMC3 NM_005445.3(SMC3): c.255A> G (p.Ser85=) single nucleotide variant Conflicting interpretations of pathogenicity rs146433240 GRCh38 Chromosome 10, 110577477: 110577477
5 SMC3 NM_005445.3(SMC3): c.377A> G (p.Glu126Gly) single nucleotide variant Uncertain significance rs113411202 GRCh37 Chromosome 10, 112338412: 112338412
6 SMC3 NM_005445.3(SMC3): c.377A> G (p.Glu126Gly) single nucleotide variant Uncertain significance rs113411202 GRCh38 Chromosome 10, 110578654: 110578654
7 SMC3 NM_005445.3(SMC3): c.507C> T (p.Asp169=) single nucleotide variant Uncertain significance rs370909218 GRCh37 Chromosome 10, 112340739: 112340739
8 SMC3 NM_005445.3(SMC3): c.507C> T (p.Asp169=) single nucleotide variant Uncertain significance rs370909218 GRCh38 Chromosome 10, 110580981: 110580981
9 SMC3 NM_005445.3(SMC3): c.548-5_548-4dup duplication Benign/Likely benign rs199906378 GRCh38 Chromosome 10, 110581918: 110581919
10 SMC3 NM_005445.3(SMC3): c.548-5_548-4dup duplication Benign/Likely benign rs199906378 GRCh37 Chromosome 10, 112341676: 112341677
11 SMC3 NM_005445.3(SMC3): c.707G> C (p.Arg236Pro) single nucleotide variant Likely pathogenic rs587784429 GRCh37 Chromosome 10, 112341840: 112341840
12 SMC3 NM_005445.3(SMC3): c.707G> C (p.Arg236Pro) single nucleotide variant Likely pathogenic rs587784429 GRCh38 Chromosome 10, 110582082: 110582082
13 SMC3 NM_005445.3(SMC3): c.1092-8T> G single nucleotide variant Benign/Likely benign rs79912955 GRCh37 Chromosome 10, 112343933: 112343933
14 SMC3 NM_005445.3(SMC3): c.1092-8T> G single nucleotide variant Benign/Likely benign rs79912955 GRCh38 Chromosome 10, 110584175: 110584175
15 SMC3 NM_005445.3(SMC3): c.1280A> G (p.Lys427Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142524280 GRCh37 Chromosome 10, 112344129: 112344129
16 SMC3 NM_005445.3(SMC3): c.1280A> G (p.Lys427Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142524280 GRCh38 Chromosome 10, 110584371: 110584371
17 SMC3 NM_005445.3(SMC3): c.1365T> C (p.Tyr455=) single nucleotide variant Benign/Likely benign rs75323904 GRCh37 Chromosome 10, 112349422: 112349422
18 SMC3 NM_005445.3(SMC3): c.1365T> C (p.Tyr455=) single nucleotide variant Benign/Likely benign rs75323904 GRCh38 Chromosome 10, 110589664: 110589664
19 SMC3 NM_005445.3(SMC3): c.1581T> C (p.His527=) single nucleotide variant Uncertain significance rs182445355 GRCh37 Chromosome 10, 112350241: 112350241
20 SMC3 NM_005445.3(SMC3): c.1581T> C (p.His527=) single nucleotide variant Uncertain significance rs182445355 GRCh38 Chromosome 10, 110590483: 110590483
21 SMC3 NM_005445.3(SMC3): c.1680T> C (p.Tyr560=) single nucleotide variant Uncertain significance rs75817442 GRCh37 Chromosome 10, 112350758: 112350758
22 SMC3 NM_005445.3(SMC3): c.1680T> C (p.Tyr560=) single nucleotide variant Uncertain significance rs75817442 GRCh38 Chromosome 10, 110591000: 110591000
23 SMC3 NM_005445.3(SMC3): c.1964G> A (p.Gly655Asp) single nucleotide variant Likely pathogenic rs587784425 GRCh37 Chromosome 10, 112356156: 112356156
24 SMC3 NM_005445.3(SMC3): c.1964G> A (p.Gly655Asp) single nucleotide variant Likely pathogenic rs587784425 GRCh38 Chromosome 10, 110596398: 110596398
25 SMC3 NM_005445.3(SMC3): c.2264C> T (p.Pro755Leu) single nucleotide variant Uncertain significance rs76568464 GRCh37 Chromosome 10, 112358044: 112358044
26 SMC3 NM_005445.3(SMC3): c.2264C> T (p.Pro755Leu) single nucleotide variant Uncertain significance rs76568464 GRCh38 Chromosome 10, 110598286: 110598286
27 SMC3 NM_005445.3(SMC3): c.2268+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784426 GRCh37 Chromosome 10, 112358052: 112358052
28 SMC3 NM_005445.3(SMC3): c.2268+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784426 GRCh38 Chromosome 10, 110598294: 110598294
29 SMC3 NM_005445.3(SMC3): c.2299T> C (p.Leu767=) single nucleotide variant Uncertain significance rs139763232 GRCh37 Chromosome 10, 112359442: 112359442
30 SMC3 NM_005445.3(SMC3): c.2299T> C (p.Leu767=) single nucleotide variant Uncertain significance rs139763232 GRCh38 Chromosome 10, 110599684: 110599684
31 SMC3 NM_005445.3(SMC3): c.2329T> C (p.Leu777=) single nucleotide variant Conflicting interpretations of pathogenicity rs76625999 GRCh37 Chromosome 10, 112359472: 112359472
32 SMC3 NM_005445.3(SMC3): c.2329T> C (p.Leu777=) single nucleotide variant Conflicting interpretations of pathogenicity rs76625999 GRCh38 Chromosome 10, 110599714: 110599714
33 SMC3 NM_005445.3(SMC3): c.2338G> C (p.Glu780Gln) single nucleotide variant Likely pathogenic rs587784427 GRCh37 Chromosome 10, 112359481: 112359481
34 SMC3 NM_005445.3(SMC3): c.2338G> C (p.Glu780Gln) single nucleotide variant Likely pathogenic rs587784427 GRCh38 Chromosome 10, 110599723: 110599723
35 SMC3 NM_005445.3(SMC3): c.2427+13C> T single nucleotide variant Uncertain significance rs190798929 GRCh37 Chromosome 10, 112359583: 112359583
36 SMC3 NM_005445.3(SMC3): c.2427+13C> T single nucleotide variant Uncertain significance rs190798929 GRCh38 Chromosome 10, 110599825: 110599825
37 SMC3 NM_005445.3(SMC3): c.2493T> C (p.Tyr831=) single nucleotide variant Uncertain significance rs112525060 GRCh37 Chromosome 10, 112360262: 112360262
38 SMC3 NM_005445.3(SMC3): c.2493T> C (p.Tyr831=) single nucleotide variant Uncertain significance rs112525060 GRCh38 Chromosome 10, 110600504: 110600504
39 SMC3 NM_005445.3(SMC3): c.2535+15T> G single nucleotide variant Conflicting interpretations of pathogenicity rs3818903 GRCh37 Chromosome 10, 112360319: 112360319
40 SMC3 NM_005445.3(SMC3): c.2535+15T> G single nucleotide variant Conflicting interpretations of pathogenicity rs3818903 GRCh38 Chromosome 10, 110600561: 110600561
41 SMC3 NM_005445.3(SMC3): c.2644+6T> A single nucleotide variant Benign/Likely benign rs201281088 GRCh37 Chromosome 10, 112360894: 112360894
42 SMC3 NM_005445.3(SMC3): c.2644+6T> A single nucleotide variant Benign/Likely benign rs201281088 GRCh38 Chromosome 10, 110601136: 110601136
43 SMC3 NM_005445.3(SMC3): c.2710T> C (p.Trp904Arg) single nucleotide variant Uncertain significance rs112281749 GRCh37 Chromosome 10, 112361460: 112361460
44 SMC3 NM_005445.3(SMC3): c.2710T> C (p.Trp904Arg) single nucleotide variant Uncertain significance rs112281749 GRCh38 Chromosome 10, 110601702: 110601702
45 SMC3 NM_005445.3(SMC3): c.2934G> A (p.Lys978=) single nucleotide variant Conflicting interpretations of pathogenicity rs147463420 GRCh37 Chromosome 10, 112361765: 112361765
46 SMC3 NM_005445.3(SMC3): c.2934G> A (p.Lys978=) single nucleotide variant Conflicting interpretations of pathogenicity rs147463420 GRCh38 Chromosome 10, 110602007: 110602007
47 SMC3 NM_005445.3(SMC3): c.2964T> C (p.Asp988=) single nucleotide variant Uncertain significance rs111611128 GRCh37 Chromosome 10, 112361795: 112361795
48 SMC3 NM_005445.3(SMC3): c.2964T> C (p.Asp988=) single nucleotide variant Uncertain significance rs111611128 GRCh38 Chromosome 10, 110602037: 110602037
49 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh37 Chromosome 10, 112360774: 112360784
50 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh38 Chromosome 10, 110601016: 110601026

Expression for Cornelia De Lange Syndrome 3

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 3.

Pathways for Cornelia De Lange Syndrome 3

GO Terms for Cornelia De Lange Syndrome 3

Sources for Cornelia De Lange Syndrome 3

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