MCID: CRN135
MIFTS: 21

Cornelia De Lange Syndrome 3

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

Aliases & Classifications for Cornelia De Lange Syndrome 3

MalaCards integrated aliases for Cornelia De Lange Syndrome 3:

Name: Cornelia De Lange Syndrome 3 53 71 28 13 69
Cdls3 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

31
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 : 71 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, and has symptoms including short neck, high palate and ptosis. An important gene associated with Cornelia De Lange Syndrome 3 is SMC3 (Structural Maintenance Of Chromosomes 3). Affiliated tissues include heart.

OMIM : 53 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:

53
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 Gastroin testinal:
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:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 short neck 31 occasional (7.5%) HP:0000470
2 high palate 31 HP:0000218
3 ptosis 31 occasional (7.5%) HP:0000508
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 occasional (7.5%) HP:0005280
7 abnormality of the dentition 31 occasional (7.5%) HP:0000164
8 microcephaly 31 HP:0000252
9 anteverted nares 31 HP:0000463
10 thick eyebrow 31 HP:0000574
11 short stature 31 HP:0004322
12 gastroesophageal reflux 31 HP:0002020
13 feeding difficulties in infancy 31 HP:0008872
14 cognitive impairment 31 HP:0100543
15 brachycephaly 31 HP:0000248
16 micrognathia 31 occasional (7.5%) HP:0000347
17 short foot 31 HP:0001773
18 myopia 31 HP:0000545
19 prominent nasal bridge 31 HP:0000426
20 clinodactyly of the 5th finger 31 HP:0004209
21 small hand 31 HP:0200055
22 limited elbow movement 31 HP:0002996
23 brachydactyly 31 HP:0001156
24 downturned corners of mouth 31 HP:0002714
25 bulbous nose 31 HP:0000414
26 thin upper lip vermilion 31 HP:0000219
27 low anterior hairline 31 occasional (7.5%) HP:0000294
28 pulmonic stenosis 31 HP:0001642
29 highly arched eyebrow 31 HP:0002553
30 thin vermilion border 31 HP:0000233
31 long eyelashes 31 HP:0000527
32 synophrys 31 HP:0000664
33 proximal placement of thumb 31 HP:0009623
34 cutis marmorata 31 occasional (7.5%) HP:0000965
35 hirsutism 31 HP:0001007
36 poor speech 31 HP:0002465
37 thick hair 31 HP:0100874
38 abnormal cardiac septum morphology 31 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 28 SMC3

Anatomical Context for Cornelia De Lange Syndrome 3

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

38
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 all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMC3 NM_005445.3(SMC3): c.707G> C (p.Arg236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587784429 GRCh38 Chromosome 10, 110582082: 110582082
2 SMC3 NM_005445.3(SMC3): c.1964G> A (p.Gly655Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587784425 GRCh37 Chromosome 10, 112356156: 112356156
3 SMC3 NM_005445.3(SMC3): c.2338G> C (p.Glu780Gln) single nucleotide variant Likely pathogenic rs587784427 GRCh38 Chromosome 10, 110599723: 110599723
4 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh37 Chromosome 10, 112360774: 112360784
5 SMC3 NM_005445.3(SMC3): c.1464_1466delAGA (p.Glu488del) deletion Pathogenic rs863223279 GRCh37 Chromosome 10, 112349704: 112349706
6 SMC3 NM_005445.3(SMC3): c.2750A> C (p.His917Pro) single nucleotide variant Pathogenic rs797044861 GRCh37 Chromosome 10, 112361500: 112361500
7 SMC3 NM_005445.3(SMC3): c.587T> C (p.Ile196Thr) single nucleotide variant Likely pathogenic rs797045070 GRCh37 Chromosome 10, 112341720: 112341720
8 SMC3 NM_005445.3(SMC3): c.859_861dupGAA (p.Glu287_Lys288insGlu) duplication Likely pathogenic rs797045997 GRCh38 Chromosome 10, 110583438: 110583440
9 SMC3 NM_005445.3(SMC3): c.2636G> C (p.Arg879Pro) single nucleotide variant Likely pathogenic rs797045996 GRCh37 Chromosome 10, 112360880: 112360880
10 SMC3 NM_005445.3(SMC3): c.139T> C (p.Phe47Leu) single nucleotide variant Pathogenic rs863225258 GRCh38 Chromosome 10, 110575344: 110575344
11 SMC3 NM_005445.3(SMC3): c.703_705delACT (p.Thr235del) deletion Pathogenic rs863225259 GRCh37 Chromosome 10, 112341836: 112341838
12 SMC3 NM_005445.3(SMC3): c.1462G> A (p.Glu488Lys) single nucleotide variant Pathogenic rs863225260 GRCh37 Chromosome 10, 112349702: 112349702
13 SMC3 NM_005445.3(SMC3): c.1997G> C (p.Gly666Ala) single nucleotide variant Pathogenic rs863225261 GRCh37 Chromosome 10, 112356189: 112356189
14 SMC3 NM_005445.3(SMC3): c.283G> A (p.Glu95Lys) single nucleotide variant Likely pathogenic rs869312672 GRCh37 Chromosome 10, 112337605: 112337605
15 SMC3 NM_005445.3(SMC3): c.2005T> G (p.Tyr669Asp) single nucleotide variant Likely pathogenic rs776056911 GRCh38 Chromosome 10, 110596439: 110596439
16 SMC3 NM_005445.3(SMC3): c.3373C> G (p.Leu1125Val) single nucleotide variant Likely pathogenic rs901512521 GRCh37 Chromosome 10, 112362658: 112362658

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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70 UMLS via Orphanet
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