CDLS4
MCID: CRN215
MIFTS: 25

Cornelia De Lange Syndrome 4 (CDLS4)

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

Aliases & Classifications for Cornelia De Lange Syndrome 4

MalaCards integrated aliases for Cornelia De Lange Syndrome 4:

Name: Cornelia De Lange Syndrome 4 58 12 76 30 13 6 74
Cdls4 58 76
Cornelia De Lange Syndrome, Type 4 41

Characteristics:

OMIM:

58
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:

33
cornelia de lange syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 4

UniProtKB/Swiss-Prot : 76 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 cornelia de lange syndrome 1 and trichorhinophalangeal syndrome, type ii. An important gene associated with Cornelia De Lange Syndrome 4 is RAD21 (RAD21 Cohesin Complex Component). Affiliated tissues include bone and eye, and related phenotypes are gastroesophageal reflux and cleft palate

Disease Ontology : 12 A Cornelia de Lange syndrome that has material basis in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.

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 cornelia de lange syndrome 1 10.3
2 trichorhinophalangeal syndrome, type ii 10.3
3 cornelia de lange syndrome 10.3
4 trichorhinophalangeal syndrome 10.3

Symptoms & Phenotypes for Cornelia De Lange Syndrome 4

Human phenotypes related to Cornelia De Lange Syndrome 4:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
2 cleft palate 33 occasional (7.5%) HP:0000175
3 brachydactyly 33 occasional (7.5%) HP:0001156
4 hemivertebrae 33 occasional (7.5%) HP:0002937
5 cutis marmorata 33 occasional (7.5%) HP:0000965
6 syndactyly 33 occasional (7.5%) HP:0001159
7 vertebral clefting 33 occasional (7.5%) HP:0008428
8 global developmental delay 33 HP:0001263
9 wide nasal bridge 33 HP:0000431
10 microcephaly 33 HP:0000252
11 smooth philtrum 33 HP:0000319
12 thick eyebrow 33 HP:0000574
13 short stature 33 HP:0004322
14 long philtrum 33 HP:0000343
15 exostoses 33 HP:0100777
16 thin upper lip vermilion 33 HP:0000219
17 highly arched eyebrow 33 HP:0002553
18 synophrys 33 HP:0000664

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
wide nasal bridge
broad nasal bridge

Head And Neck Face:
smooth philtrum
long philtrum

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

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

Abdomen Gastrointestinal:
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

Head And Neck Head:
microcephaly

Growth Height:
short stature

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

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

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 30 RAD21

Anatomical Context for Cornelia De Lange Syndrome 4

MalaCards organs/tissues related to Cornelia De Lange Syndrome 4:

42
Bone, Eye

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
2
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26430469 )
2015
3
RAD21 mutations cause a human cohesinopathy. ( 22633399 )
2012

Variations for Cornelia De Lange Syndrome 4

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

76
# 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 (show all 46)
# 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.1127C> G (p.Pro376Arg) single nucleotide variant Pathogenic rs387907212 GRCh38 Chromosome 8, 116854279: 116854279
3 RAD21 NM_006265.2(RAD21): c.1753T> C (p.Cys585Arg) single nucleotide variant Pathogenic rs387907213 GRCh37 Chromosome 8, 117859882: 117859882
4 RAD21 NM_006265.2(RAD21): c.1753T> C (p.Cys585Arg) single nucleotide variant Pathogenic rs387907213 GRCh38 Chromosome 8, 116847643: 116847643
5 RAD21 NM_006265.2(RAD21): c.1782C> T (p.Ala594=) single nucleotide variant Uncertain significance rs61737172 GRCh37 Chromosome 8, 117859853: 117859853
6 RAD21 NM_006265.2(RAD21): c.1782C> T (p.Ala594=) single nucleotide variant Uncertain significance rs61737172 GRCh38 Chromosome 8, 116847614: 116847614
7 RAD21 NM_006265.2(RAD21): c.1617A> G (p.Glu539=) single nucleotide variant Uncertain significance rs138040512 GRCh37 Chromosome 8, 117862860: 117862860
8 RAD21 NM_006265.2(RAD21): c.1617A> G (p.Glu539=) single nucleotide variant Uncertain significance rs138040512 GRCh38 Chromosome 8, 116850621: 116850621
9 RAD21 NM_006265.2(RAD21): c.592_593dup (p.Ser198Argfs) duplication Pathogenic rs797045909 GRCh38 Chromosome 8, 116857362: 116857363
10 RAD21 NM_006265.2(RAD21): c.592_593dup (p.Ser198Argfs) duplication Pathogenic rs797045909 GRCh37 Chromosome 8, 117869601: 117869602
11 RAD21 NM_006265.2(RAD21): c.579dup (p.Glu194Argfs) duplication Pathogenic rs797045908 GRCh37 Chromosome 8, 117869615: 117869615
12 RAD21 NM_006265.2(RAD21): c.579dup (p.Glu194Argfs) duplication Pathogenic rs797045908 GRCh38 Chromosome 8, 116857376: 116857376
13 RAD21 NM_006265.2(RAD21): c.56_62del (p.Leu19Profs) deletion Pathogenic rs797045907 GRCh38 Chromosome 8, 116866668: 116866674
14 RAD21 NM_006265.2(RAD21): c.56_62del (p.Leu19Profs) deletion Pathogenic rs797045907 GRCh37 Chromosome 8, 117878907: 117878913
15 RAD21 NM_006265.2(RAD21): c.1808T> C (p.Leu603Pro) single nucleotide variant Likely pathogenic rs863224910 GRCh37 Chromosome 8, 117859827: 117859827
16 RAD21 NM_006265.2(RAD21): c.1808T> C (p.Leu603Pro) single nucleotide variant Likely pathogenic rs863224910 GRCh38 Chromosome 8, 116847588: 116847588
17 RAD21 NM_006265.2(RAD21): c.1352T> G (p.Leu451Arg) single nucleotide variant Uncertain significance rs144953114 GRCh37 Chromosome 8, 117864305: 117864305
18 RAD21 NM_006265.2(RAD21): c.1352T> G (p.Leu451Arg) single nucleotide variant Uncertain significance rs144953114 GRCh38 Chromosome 8, 116852066: 116852066
19 RAD21 NM_006265.2(RAD21): c.1349G> A (p.Arg450His) single nucleotide variant Uncertain significance rs1051321465 GRCh37 Chromosome 8, 117864308: 117864308
20 RAD21 NM_006265.2(RAD21): c.1349G> A (p.Arg450His) single nucleotide variant Uncertain significance rs1051321465 GRCh38 Chromosome 8, 116852069: 116852069
21 RAD21 NM_006265.2(RAD21): c.181_182dup (p.Gly62Trpfs) duplication Pathogenic rs1554612096 GRCh38 Chromosome 8, 116863222: 116863223
22 RAD21 NM_006265.2(RAD21): c.181_182dup (p.Gly62Trpfs) duplication Pathogenic rs1554612096 GRCh37 Chromosome 8, 117875461: 117875462
23 RAD21 NM_006265.2(RAD21): c.1852A> G (p.Ser618Gly) single nucleotide variant Uncertain significance rs1554610467 GRCh37 Chromosome 8, 117859783: 117859783
24 RAD21 NM_006265.2(RAD21): c.1852A> G (p.Ser618Gly) single nucleotide variant Uncertain significance rs1554610467 GRCh38 Chromosome 8, 116847544: 116847544
25 RAD21 NM_006265.2(RAD21): c.1065G> A (p.Pro355=) single nucleotide variant Likely benign rs202233096 GRCh38 Chromosome 8, 116854341: 116854341
26 RAD21 NM_006265.2(RAD21): c.1065G> A (p.Pro355=) single nucleotide variant Likely benign rs202233096 GRCh37 Chromosome 8, 117866580: 117866580
27 RAD21 NM_006265.2(RAD21): c.786C> T (p.Asp262=) single nucleotide variant Benign rs34653007 GRCh38 Chromosome 8, 116856674: 116856674
28 RAD21 NM_006265.2(RAD21): c.786C> T (p.Asp262=) single nucleotide variant Benign rs34653007 GRCh37 Chromosome 8, 117868913: 117868913
29 RAD21 NM_006265.2(RAD21): c.1515C> G (p.Pro505=) single nucleotide variant Benign rs9297560 GRCh38 Chromosome 8, 116850723: 116850723
30 RAD21 NM_006265.2(RAD21): c.1515C> G (p.Pro505=) single nucleotide variant Benign rs9297560 GRCh37 Chromosome 8, 117862962: 117862962
31 RAD21 NM_006265.2(RAD21): c.1848G> A (p.Pro616=) single nucleotide variant Likely benign rs761965871 GRCh38 Chromosome 8, 116847548: 116847548
32 RAD21 NM_006265.2(RAD21): c.1848G> A (p.Pro616=) single nucleotide variant Likely benign rs761965871 GRCh37 Chromosome 8, 117859787: 117859787
33 RAD21 NM_006265.2(RAD21): c.1576G> C (p.Glu526Gln) single nucleotide variant Uncertain significance rs373026310 GRCh38 Chromosome 8, 116850662: 116850662
34 RAD21 NM_006265.2(RAD21): c.1576G> C (p.Glu526Gln) single nucleotide variant Uncertain significance rs373026310 GRCh37 Chromosome 8, 117862901: 117862901
35 RAD21 NM_006265.2(RAD21): c.815-5delT deletion Likely benign rs35902828 GRCh37 Chromosome 8, 117868532: 117868532
36 RAD21 NM_006265.2(RAD21): c.815-5delT deletion Likely benign rs35902828 GRCh38 Chromosome 8, 116856293: 116856293
37 RAD21 NM_006265.2(RAD21): c.1550dup (p.Glu518Argfs) duplication Pathogenic GRCh37 Chromosome 8, 117862927: 117862927
38 RAD21 NM_006265.2(RAD21): c.1550dup (p.Glu518Argfs) duplication Pathogenic GRCh38 Chromosome 8, 116850688: 116850688
39 RAD21 NM_006265.2(RAD21): c.1161+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 117866483: 117866483
40 RAD21 NM_006265.2(RAD21): c.1161+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 116854244: 116854244
41 RAD21 NM_006265.2(RAD21): c.145-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs752213732 GRCh38 Chromosome 8, 116863263: 116863263
42 RAD21 NM_006265.2(RAD21): c.145-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs752213732 GRCh37 Chromosome 8, 117875502: 117875502
43 RAD21 NM_006265.2(RAD21): c.1774_1776delCAA (p.Gln592del) deletion Likely pathogenic GRCh37 Chromosome 8, 117859859: 117859861
44 RAD21 NM_006265.2(RAD21): c.1774_1776delCAA (p.Gln592del) deletion Likely pathogenic GRCh38 Chromosome 8, 116847620: 116847622
45 RAD21 NM_006265.2(RAD21): c.208A> T (p.Lys70Ter) single nucleotide variant Pathogenic rs1554612093 GRCh38 Chromosome 8, 116863196: 116863196
46 RAD21 NM_006265.2(RAD21): c.208A> T (p.Lys70Ter) single nucleotide variant Pathogenic rs1554612093 GRCh37 Chromosome 8, 117875435: 117875435

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....