MCID: CRN215
MIFTS: 27

Cornelia De Lange Syndrome 4

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

Aliases & Classifications for Cornelia De Lange Syndrome 4

MalaCards integrated aliases for Cornelia De Lange Syndrome 4:

Name: Cornelia De Lange Syndrome 4 54 71 29 13 69
Cdls4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
patients with contiguous gene deletion of 8q24 have more severe features
two patients with point mutations in rad21 have been reported (last curated july 2012)


HPO:

32
cornelia de lange syndrome 4:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 4

UniProtKB/Swiss-Prot : 71 Cornelia de Lange syndrome 4: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

MalaCards based summary : Cornelia De Lange Syndrome 4, also known as cdls4, is related to rad21-related cornelia de lange syndrome and cornelia de lange syndrome, and has symptoms including short stature, brachydactyly and microcephaly. An important gene associated with Cornelia De Lange Syndrome 4 is RAD21 (RAD21 Cohesin Complex Component).

Description from OMIM: 614701

Related Diseases for Cornelia De Lange Syndrome 4

Symptoms & Phenotypes for Cornelia De Lange Syndrome 4

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
thick eyebrows
arched eyebrows
synophrys
long lashes

Head And Neck- Mouth:
thin upper lip
cleft palate (less common)

Head And Neck- Nose:
wide nasal bridge
broad nasal bridge

Abdomen- Gastroin testinal:
gastroesophageal reflux (less common)

Skeletal- Limbs:
exostoses (in patients with larger deletions involving the ext1 gene)
radioulnar abnormalities (in some patients)

Neurologic- Central Nervous System:
cognitive delay, mild to severe

Skin Nails & Hair- Hair:
thick eyebrows
arched eyebrows
synophrys
long lashes

Head And Neck- Head:
microcephaly

Head And Neck- Face:
long philtrum
smooth philtrum

Skeletal- Hands:
brachydactyly (in some patients)
syndactyly (in some patients)

Skeletal- Spine:
vertebral clefting (in some patients)
hemivertebrae (in some patients)

Skin Nails & Hair- Skin:
cutis marmorata (in some)


Clinical features from OMIM:

614701

Human phenotypes related to Cornelia De Lange Syndrome 4:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 brachydactyly 32 occasional (7.5%) HP:0001156
3 microcephaly 32 HP:0000252
4 cleft palate 32 occasional (7.5%) HP:0000175
5 global developmental delay 32 HP:0001263
6 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
7 hemivertebrae 32 occasional (7.5%) HP:0002937
8 cutis marmorata 32 occasional (7.5%) HP:0000965
9 long philtrum 32 HP:0000343
10 wide nasal bridge 32 HP:0000431
11 synophrys 32 HP:0000664
12 syndactyly 32 occasional (7.5%) HP:0001159
13 smooth philtrum 32 HP:0000319
14 thin upper lip vermilion 32 HP:0000219
15 exostoses 32 HP:0100777
16 vertebral clefting 32 occasional (7.5%) HP:0008428
17 thick eyebrow 32 HP:0000574
18 highly arched eyebrow 32 HP:0002553

Drugs & Therapeutics for Cornelia De Lange Syndrome 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cornelia De Lange Syndrome 4

Genetic Tests for Cornelia De Lange Syndrome 4

Genetic tests related to Cornelia De Lange Syndrome 4:

id Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 4 29

Anatomical Context for Cornelia De Lange Syndrome 4

Publications for Cornelia De Lange Syndrome 4

Articles related to Cornelia De Lange Syndrome 4:

id Title Authors Year
1
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26269715 )
2015

Variations for Cornelia De Lange Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 4:

71
id Symbol AA change Variation ID SNP ID
1 RAD21 p.Pro376Arg VAR_068691 rs387907212
2 RAD21 p.Cys585Arg VAR_068692 rs387907213

ClinVar genetic disease variations for Cornelia De Lange Syndrome 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAD21 NM_006265.2(RAD21): c.1127C> G (p.Pro376Arg) single nucleotide variant Pathogenic rs387907212 GRCh37 Chromosome 8, 117866518: 117866518
2 RAD21 NM_006265.2(RAD21): c.1753T> C (p.Cys585Arg) single nucleotide variant Pathogenic rs387907213 GRCh37 Chromosome 8, 117859882: 117859882
3 RAD21 NM_006265.2(RAD21): c.592_593dupAG (p.Ser198Argfs) duplication Pathogenic rs797045909 GRCh37 Chromosome 8, 117869601: 117869602
4 RAD21 NM_006265.2(RAD21): c.579dupA (p.Glu194Argfs) duplication Pathogenic rs797045908 GRCh38 Chromosome 8, 116857376: 116857376
5 RAD21 NM_006265.2(RAD21): c.56_62delTAGCGGC (p.Leu19Profs) deletion Pathogenic rs797045907 GRCh37 Chromosome 8, 117878907: 117878913
6 RAD21 NM_006265.2(RAD21): c.1808T> C (p.Leu603Pro) single nucleotide variant Likely pathogenic rs863224910 GRCh38 Chromosome 8, 116847588: 116847588
7 RAD21 NM_006265.2(RAD21): c.181_182dup (p.Gly62Trpfs) duplication Pathogenic GRCh38 Chromosome 8, 116863222: 116863223

Expression for Cornelia De Lange Syndrome 4

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 4.

Pathways for Cornelia De Lange Syndrome 4

GO Terms for Cornelia De Lange Syndrome 4

Sources for Cornelia De Lange Syndrome 4

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
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37 KEGG
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42 MeSH
43 MESH via Orphanet
44 MGI
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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
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