CDKL5
MCID: CDK006
MIFTS: 20

Cdkl5 Deficiency Disorder (CDKL5)

Categories: Rare diseases

Aliases & Classifications for Cdkl5 Deficiency Disorder

MalaCards integrated aliases for Cdkl5 Deficiency Disorder:

Name: Cdkl5 Deficiency Disorder 54 26
Cdkl5 Deficiency 54 26
Cdkl5 Disorder 54 26
Encephalopathy, Epileptic, Early Infantile, Type 2 41
X-Linked Dominant Infantile Spasm Syndrome-2 54
Early Infantile Epileptic Encephalopathy 2 26
Early Infantile Epileptic Encephalopathy-2 54
Cdkl5-Related Epileptic Encephalopathy 26
Cdkl5-Related Disorder 54
Cdkl5-Related Epilepsy 26
Cdkl5 Encephalopathy 26
Cdkl5 54

Classifications:



Summaries for Cdkl5 Deficiency Disorder

NIH Rare Diseases : 54 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 cdkl5 deficiency, is related to rett syndrome and west syndrome. The drugs Central Nervous System Depressants and Pregnanolone have been mentioned in the context of this disorder. Affiliated tissues include brain.

Genetics Home Reference : 26 CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.

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

Drugs & Therapeutics for Cdkl5 Deficiency Disorder

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Central Nervous System Depressants Phase 3
2 Pregnanolone Phase 3 128-20-1
3 Anesthetics Phase 3
4 Anticonvulsants Phase 2
5 Pharmaceutical Solutions Phase 2
6 Serotonin Agents Phase 2
7 Serotonin Uptake Inhibitors Phase 2
8 Neurotransmitter Agents Phase 2
9 Neurotransmitter Uptake Inhibitors Phase 2
10
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202

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 Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY) 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
5 Fenfluramine in CDD Not yet recruiting NCT03861871 Phase 2 Fenfluramine Hydrochloride

Search NIH Clinical Center for Cdkl5 Deficiency Disorder

Genetic Tests for Cdkl5 Deficiency Disorder

Anatomical Context for Cdkl5 Deficiency Disorder

MalaCards organs/tissues related to Cdkl5 Deficiency Disorder:

42
Brain

Publications for Cdkl5 Deficiency Disorder

Articles related to Cdkl5 Deficiency Disorder:

# Title Authors Year
1
Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder. ( 30771550 )
2019
2
Rescue of prepulse inhibition deficit and brain mitochondrial dysfunction by pharmacological stimulation of the central serotonin receptor 7 in a mouse model of CDKL5 Deficiency Disorder. ( 30326240 )
2019
3
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder. ( 30561084 )
2019
4
CDKL5 deficiency predisposes neurons to cell death through the deregulation of SMAD3 signaling. ( 30793413 )
2019
5
Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder. ( 30071384 )
2018
6
Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes. ( 30006259 )
2018
7
CDKL5 deficiency entails sleep apneas in mice. ( 28230307 )
2017

Variations for Cdkl5 Deficiency Disorder

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 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
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