MCID: CRN215
MIFTS: 22

Cornelia De Lange Syndrome 4

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

Aliases & Classifications for Cornelia De Lange Syndrome 4

MalaCards integrated aliases for Cornelia De Lange Syndrome 4:

Name: Cornelia De Lange Syndrome 4 53 71 28 13 69
Cdls4 53 71

Characteristics:

OMIM:

53
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:

31
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 trichorhinophalangeal syndrome, type ii and cornelia de lange syndrome, and has symptoms including global developmental delay, wide nasal bridge 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

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type ii 10.1
2 cornelia de lange syndrome 10.1
3 trichorhinophalangeal syndrome 10.1

Symptoms & Phenotypes for Cornelia De Lange Syndrome 4

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckNose:
wide nasal bridge
broad nasal bridge

HeadAndNeckFace:
smooth philtrum
long philtrum

HeadAndNeckEyes:
synophrys
thick eyebrows
arched eyebrows
long lashes

HeadAndNeckMouth:
thin upper lip
cleft palate (less common)

AbdomenGastrointestinal:
gastroesophageal reflux (less common)

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

NeurologicCentralNervousSystem:
cognitive delay, mild to severe

HeadAndNeckHead:
microcephaly

GrowthHeight:
short stature

SkinNailsHairHair:
synophrys
thick eyebrows
arched eyebrows
long lashes

SkeletalHands:
brachydactyly (in some patients)
syndactyly (in some patients)

SkeletalSpine:
vertebral clefting (in some patients)
hemivertebrae (in some patients)

SkinNailsHairSkin:
cutis marmorata (in some)


Clinical features from OMIM:

614701

Human phenotypes related to Cornelia De Lange Syndrome 4:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 wide nasal bridge 31 HP:0000431
3 microcephaly 31 HP:0000252
4 smooth philtrum 31 HP:0000319
5 thick eyebrow 31 HP:0000574
6 short stature 31 HP:0004322
7 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
8 cleft palate 31 occasional (7.5%) HP:0000175
9 long philtrum 31 HP:0000343
10 exostoses 31 HP:0100777
11 brachydactyly 31 occasional (7.5%) HP:0001156
12 thin upper lip vermilion 31 HP:0000219
13 highly arched eyebrow 31 HP:0002553
14 hemivertebrae 31 occasional (7.5%) HP:0002937
15 synophrys 31 HP:0000664
16 cutis marmorata 31 occasional (7.5%) HP:0000965
17 syndactyly 31 occasional (7.5%) HP:0001159
18 vertebral clefting 31 occasional (7.5%) HP:0008428

Drugs & Therapeutics for Cornelia De Lange Syndrome 4

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 4 28 RAD21

Anatomical Context for Cornelia De Lange Syndrome 4

Publications for Cornelia De Lange Syndrome 4

Articles related to Cornelia De Lange Syndrome 4:

# 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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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