CDKL5
MCID: CDK006
MIFTS: 23

Cdkl5 Deficiency Disorder (CDKL5)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cdkl5 Deficiency Disorder

MalaCards integrated aliases for Cdkl5 Deficiency Disorder:

Name: Cdkl5 Deficiency Disorder 53 25
Early Infantile Epileptic Encephalopathy 2 25 29 6
Cdkl5 Deficiency 53 25
Cdkl5 Disorder 53 25
Encephalopathy, Epileptic, Early Infantile, Type 2 40
X-Linked Dominant Infantile Spasm Syndrome-2 53
Early Infantile Epileptic Encephalopathy-2 53
Cdkl5-Related Epileptic Encephalopathy 25
Cdkl5-Related Disorder 53
Cdkl5-Related Epilepsy 25
Cdkl5 Encephalopathy 25
Cdkl5 53

Classifications:



Summaries for Cdkl5 Deficiency Disorder

NIH Rare Diseases : 53 CDKL5 deficiency disorder is a genetic disorder that causes seizures, developmental delay, and severe intellectual disability. Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day. Other symptoms include problems with sleeping, feeding, and teeth grinding. Gastrointestinal symptoms are also common and may include constipation, reflux, and air swallowing. About 1 in 5 children use a feeding tube. CDKL5 deficiency disorder occurs more often in females than males, and males usually have more severe symptoms. This disorder is caused by a change (pathogenic variant) in the CDKL5 gene that is usually not inherited from either parent (de novo). It is an X-linked dominant disorder. CDKL5 deficiency disorder was once thought to be a variant of Rett syndrome but is now considered a separate disorder.

MalaCards based summary : Cdkl5 Deficiency Disorder, also known as early infantile epileptic encephalopathy 2, is related to rett syndrome and encephalopathy, and has symptoms including constipation, myoclonus and myoclonic seizures. An important gene associated with Cdkl5 Deficiency Disorder is CDKL5 (Cyclin Dependent Kinase Like 5). The drugs Anesthetics and Pregnanolone have been mentioned in the context of this disorder. Affiliated tissues include brain.

Genetics Home Reference : 25 CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.

Wikipedia : 76 CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5... more...

Related Diseases for Cdkl5 Deficiency Disorder

Graphical network of the top 20 diseases related to Cdkl5 Deficiency Disorder:



Diseases related to Cdkl5 Deficiency Disorder

Symptoms & Phenotypes for Cdkl5 Deficiency Disorder

UMLS symptoms related to Cdkl5 Deficiency Disorder:


constipation, myoclonus, myoclonic seizures, difficulty sleeping

Drugs & Therapeutics for Cdkl5 Deficiency Disorder

Drugs for Cdkl5 Deficiency Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 3
2 Pregnanolone Phase 3 128-20-1
3 Central Nervous System Depressants Phase 3
4 Anticonvulsants Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder Recruiting NCT03572933 Phase 3 ganaxolone;Placebo
2 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder Recruiting NCT03694275 Phase 2 TAK-935
3 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
4 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo

Search NIH Clinical Center for Cdkl5 Deficiency Disorder

Genetic Tests for Cdkl5 Deficiency Disorder

Genetic tests related to Cdkl5 Deficiency Disorder:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 2 29 CDKL5

Anatomical Context for Cdkl5 Deficiency Disorder

MalaCards organs/tissues related to Cdkl5 Deficiency Disorder:

41
Brain

Publications for Cdkl5 Deficiency Disorder

Articles related to Cdkl5 Deficiency Disorder:

# Title Authors Year
1
Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder. ( 30071384 )
2018

Variations for Cdkl5 Deficiency Disorder

ClinVar genetic disease variations for Cdkl5 Deficiency Disorder:

6 (show top 50) (show all 424)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKL5 CDKL5, 1-BP DEL, 183T deletion Pathogenic
2 CDKL5 CDKL5, IVSAS13, G-A, -1 single nucleotide variant Pathogenic
3 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh37 Chromosome X, 18600062: 18600062
4 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh38 Chromosome X, 18581942: 18581942
5 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh37 Chromosome X, 18602444: 18602444
6 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh38 Chromosome X, 18584324: 18584324
7 CDKL5 CDKL5, 4-BP DEL, 166GAAA deletion Pathogenic
8 CDKL5 CDKL5, 2-BP DEL, 2636CT deletion Pathogenic
9 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh37 Chromosome X, 18646494: 18646494
10 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh38 Chromosome X, 18628374: 18628374
11 CDKL5 CDKL5, IVS6AS, G-T, -1 single nucleotide variant Pathogenic
12 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh37 Chromosome X, 18582616: 18582616
13 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh38 Chromosome X, 18564496: 18564496
14 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 GRCh37 Chromosome X, 18593543: 18593543
15 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 GRCh38 Chromosome X, 18575423: 18575423
16 CDKL5 NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile) single nucleotide variant Pathogenic rs267606713 GRCh37 Chromosome X, 18616619: 18616619
17 CDKL5 NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile) single nucleotide variant Pathogenic rs267606713 GRCh38 Chromosome X, 18598499: 18598499
18 CDKL5 NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs267606714 GRCh37 Chromosome X, 18616628: 18616628
19 CDKL5 NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs267606714 GRCh38 Chromosome X, 18598508: 18598508
20 CDKL5 CDKL5, 2-BP INS, 903GA insertion Pathogenic
21 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
22 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh38 Chromosome X, 18584332: 18584332
23 CDKL5 NM_003159.2(CDKL5): c.1797C> G (p.Thr599=) single nucleotide variant Benign rs141478957 GRCh37 Chromosome X, 18622841: 18622841
24 CDKL5 NM_003159.2(CDKL5): c.1797C> G (p.Thr599=) single nucleotide variant Benign rs141478957 GRCh38 Chromosome X, 18604721: 18604721
25 CDKL5 NM_003159.2(CDKL5): c.180G> A (p.Glu60=) single nucleotide variant Benign rs148697943 GRCh37 Chromosome X, 18593508: 18593508
26 CDKL5 NM_003159.2(CDKL5): c.180G> A (p.Glu60=) single nucleotide variant Benign rs148697943 GRCh38 Chromosome X, 18575388: 18575388
27 CDKL5 NM_003159.2(CDKL5): c.2200A> G (p.Thr734Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55803460 GRCh37 Chromosome X, 18631319: 18631319
28 CDKL5 NM_003159.2(CDKL5): c.2200A> G (p.Thr734Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55803460 GRCh38 Chromosome X, 18613199: 18613199
29 CDKL5 NM_003159.2(CDKL5): c.2653G> A (p.Gly885Arg) single nucleotide variant Uncertain significance rs398123694 GRCh37 Chromosome X, 18646647: 18646647
30 CDKL5 NM_003159.2(CDKL5): c.2653G> A (p.Gly885Arg) single nucleotide variant Uncertain significance rs398123694 GRCh38 Chromosome X, 18628527: 18628527
31 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh37 Chromosome X, 18671566: 18671566
32 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh38 Chromosome X, 18653446: 18653446
33 CDKL5 NM_003159.2(CDKL5): c.3003C> T (p.His1001=) single nucleotide variant Benign rs36022183 GRCh37 Chromosome X, 18671574: 18671574
34 CDKL5 NM_003159.2(CDKL5): c.3003C> T (p.His1001=) single nucleotide variant Benign rs36022183 GRCh38 Chromosome X, 18653454: 18653454
35 CDKL5 NM_003159.2(CDKL5): c.3084G> A (p.Thr1028=) single nucleotide variant Benign rs139155110 GRCh37 Chromosome X, 18671655: 18671655
36 CDKL5 NM_003159.2(CDKL5): c.3084G> A (p.Thr1028=) single nucleotide variant Benign rs139155110 GRCh38 Chromosome X, 18653535: 18653535
37 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
38 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh38 Chromosome X, 18584332: 18584332
39 CDKL5 NM_003159.2(CDKL5): c.93A> G (p.Arg31=) single nucleotide variant Conflicting interpretations of pathogenicity rs140332992 GRCh37 Chromosome X, 18528968: 18528968
40 CDKL5 NM_003159.2(CDKL5): c.93A> G (p.Arg31=) single nucleotide variant Conflicting interpretations of pathogenicity rs140332992 GRCh38 Chromosome X, 18510848: 18510848
41 CDKL5 NM_003159.2(CDKL5): c.145+17A> G single nucleotide variant Benign rs199814742 GRCh37 Chromosome X, 18582659: 18582659
42 CDKL5 NM_003159.2(CDKL5): c.145+17A> G single nucleotide variant Benign rs199814742 GRCh38 Chromosome X, 18564539: 18564539
43 CDKL5 NM_003159.2(CDKL5): c.1332C> T (p.Arg444=) single nucleotide variant Benign rs150844616 GRCh37 Chromosome X, 18622376: 18622376
44 CDKL5 NM_003159.2(CDKL5): c.1332C> T (p.Arg444=) single nucleotide variant Benign rs150844616 GRCh38 Chromosome X, 18604256: 18604256
45 CDKL5 NM_003159.2(CDKL5): c.1431T> C (p.Ser477=) single nucleotide variant Benign/Likely benign rs143992148 GRCh37 Chromosome X, 18622475: 18622475
46 CDKL5 NM_003159.2(CDKL5): c.1431T> C (p.Ser477=) single nucleotide variant Benign/Likely benign rs143992148 GRCh38 Chromosome X, 18604355: 18604355
47 CDKL5 NM_003159.2(CDKL5): c.2372A> C (p.Gln791Pro) single nucleotide variant Benign rs35478150 GRCh37 Chromosome X, 18638082: 18638082
48 CDKL5 NM_003159.2(CDKL5): c.2372A> C (p.Gln791Pro) single nucleotide variant Benign rs35478150 GRCh38 Chromosome X, 18619962: 18619962
49 CDKL5 NM_003159.2(CDKL5): c.2409G> A (p.Thr803=) single nucleotide variant Benign rs145401225 GRCh37 Chromosome X, 18643280: 18643280
50 CDKL5 NM_003159.2(CDKL5): c.2409G> A (p.Thr803=) single nucleotide variant Benign rs145401225 GRCh38 Chromosome X, 18625160: 18625160

Expression for Cdkl5 Deficiency Disorder

Search GEO for disease gene expression data for Cdkl5 Deficiency Disorder.

Pathways for Cdkl5 Deficiency Disorder

GO Terms for Cdkl5 Deficiency Disorder

Sources for Cdkl5 Deficiency Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....