MCID: CRN215
MIFTS: 22

Cornelia De Lange Syndrome 4

Categories: Genetic diseases, Muscle 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 57 75 29 13 6 73
Cdls4 57 75
Cornelia De Lange Syndrome, Type 4 40

Characteristics:

OMIM:

57
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 : 75 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. An important gene associated with Cornelia De Lange Syndrome 4 is RAD21 (RAD21 Cohesin Complex Component). Related phenotypes are cleft palate and thin upper lip vermilion

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:

57
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

Human phenotypes related to Cornelia De Lange Syndrome 4:

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

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 29 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:

75
# 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 32)
# 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_593dupAG (p.Ser198Argfs) duplication Pathogenic rs797045909 GRCh38 Chromosome 8, 116857362: 116857363
10 RAD21 NM_006265.2(RAD21): c.592_593dupAG (p.Ser198Argfs) duplication Pathogenic rs797045909 GRCh37 Chromosome 8, 117869601: 117869602
11 RAD21 NM_006265.2(RAD21): c.579dupA (p.Glu194Argfs) duplication Pathogenic rs797045908 GRCh37 Chromosome 8, 117869615: 117869615
12 RAD21 NM_006265.2(RAD21): c.579dupA (p.Glu194Argfs) duplication Pathogenic rs797045908 GRCh38 Chromosome 8, 116857376: 116857376
13 RAD21 NM_006265.2(RAD21): c.56_62delTAGCGGC (p.Leu19Profs) deletion Pathogenic rs797045907 GRCh38 Chromosome 8, 116866668: 116866674
14 RAD21 NM_006265.2(RAD21): c.56_62delTAGCGGC (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.181_182dup (p.Gly62Trpfs) duplication Pathogenic GRCh37 Chromosome 8, 117875461: 117875462
18 RAD21 NM_006265.2(RAD21): c.181_182dup (p.Gly62Trpfs) duplication Pathogenic GRCh38 Chromosome 8, 116863222: 116863223
19 RAD21 NM_006265.2(RAD21): c.1065G> A (p.Pro355=) single nucleotide variant Likely benign rs202233096 GRCh38 Chromosome 8, 116854341: 116854341
20 RAD21 NM_006265.2(RAD21): c.1065G> A (p.Pro355=) single nucleotide variant Likely benign rs202233096 GRCh37 Chromosome 8, 117866580: 117866580
21 RAD21 NM_006265.2(RAD21): c.786C> T (p.Asp262=) single nucleotide variant Benign rs34653007 GRCh38 Chromosome 8, 116856674: 116856674
22 RAD21 NM_006265.2(RAD21): c.786C> T (p.Asp262=) single nucleotide variant Benign rs34653007 GRCh37 Chromosome 8, 117868913: 117868913
23 RAD21 NM_006265.2(RAD21): c.1515C> G (p.Pro505=) single nucleotide variant Benign rs9297560 GRCh38 Chromosome 8, 116850723: 116850723
24 RAD21 NM_006265.2(RAD21): c.1515C> G (p.Pro505=) single nucleotide variant Benign rs9297560 GRCh37 Chromosome 8, 117862962: 117862962
25 RAD21 NM_006265.2(RAD21): c.1848G> A (p.Pro616=) single nucleotide variant Likely benign rs761965871 GRCh38 Chromosome 8, 116847548: 116847548
26 RAD21 NM_006265.2(RAD21): c.1848G> A (p.Pro616=) single nucleotide variant Likely benign rs761965871 GRCh37 Chromosome 8, 117859787: 117859787
27 RAD21 NM_006265.2(RAD21): c.1576G> C (p.Glu526Gln) single nucleotide variant Uncertain significance rs373026310 GRCh38 Chromosome 8, 116850662: 116850662
28 RAD21 NM_006265.2(RAD21): c.1576G> C (p.Glu526Gln) single nucleotide variant Uncertain significance rs373026310 GRCh37 Chromosome 8, 117862901: 117862901
29 RAD21 NM_006265.2(RAD21): c.815-5delT deletion Likely benign rs35902828 GRCh37 Chromosome 8, 117868532: 117868532
30 RAD21 NM_006265.2(RAD21): c.815-5delT deletion Likely benign rs35902828 GRCh38 Chromosome 8, 116856293: 116856293
31 RAD21 NM_006265.2(RAD21): c.145-4A> G single nucleotide variant Uncertain significance rs752213732 GRCh38 Chromosome 8, 116863263: 116863263
32 RAD21 NM_006265.2(RAD21): c.145-4A> G single nucleotide variant Uncertain significance rs752213732 GRCh37 Chromosome 8, 117875502: 117875502

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

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74 UMLS via Orphanet
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