CDLS4
MCID: CRN215
MIFTS: 31

Cornelia De Lange Syndrome 4 (CDLS4) malady

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

Aliases & Classifications for Cornelia De Lange Syndrome 4

Aliases & Descriptions for Cornelia De Lange Syndrome 4:

Name: Cornelia De Lange Syndrome 4 54 66 29 13 69
Cdls4 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 614701
MeSH 42 D003635

Summaries for Cornelia De Lange Syndrome 4

UniProtKB/Swiss-Prot : 66 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 1, 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), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. The drugs Canagliflozin and Hypoglycemic Agents have been mentioned in the context of this disorder.

Description from OMIM: 614701

Related Diseases for Cornelia De Lange Syndrome 4

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 4:



Diseases related to Cornelia De Lange Syndrome 4

Symptoms & Phenotypes for Cornelia De Lange Syndrome 4

Symptoms by clinical synopsis from OMIM:

614701

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

Drugs & Therapeutics for Cornelia De Lange Syndrome 4

Drugs for Cornelia De Lange Syndrome 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Canagliflozin Approved Phase 3 842133-18-0
2 Hypoglycemic Agents Phase 3
3
Oseltamivir Approved Phase 2 204255-11-8, 196618-13-0 65028
4 Anti-Infective Agents Phase 2
5 Antiviral Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 Evaluation of the Effects of Canagliflozin on Renal and Cardiovascular Outcomes in Participants With Diabetic Nephropathy Recruiting NCT02065791 Phase 3
3 Study of Acute Uncomplicated Seasonal Influenza A in Adult Subjects Unknown status NCT02342249 Phase 2
4 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
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

Variations for Cornelia De Lange Syndrome 4

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

66
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 GRCh38 Chromosome 8, 116866668: 116866674
6 RAD21 NM_006265.2(RAD21): c.1808T> C (p.Leu603Pro) single nucleotide variant Likely pathogenic rs863224910 GRCh37 Chromosome 8, 117859827: 117859827

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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