Aliases & Classifications for Cdkl5 Deficiency Disorder

MalaCards integrated aliases for Cdkl5 Deficiency Disorder:

Name: Cdkl5 Deficiency Disorder 53 25 59
Early Infantile Epileptic Encephalopathy 2 25 29 6
Cdkl5 Deficiency 53 25 59
Cdkl5 Disorder 53 25 59
Cdkl5-Related Epileptic Encephalopathy 25 59
Encephalopathy, Epileptic, Early Infantile, Type 2 40
X-Linked Dominant Infantile Spasm Syndrome-2 53
Early Infantile Epileptic Encephalopathy-2 53
Cdkl5-Related Disorder 53
Cdkl5-Related Epilepsy 25
Cdkl5 Encephalopathy 25
Cdkl5 53

Classifications:



External Ids:

Orphanet 59 ORPHA505652

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 difficulty sleeping. An important gene associated with Cdkl5 Deficiency Disorder is CDKL5 (Cyclin Dependent Kinase Like 5). 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, difficulty sleeping, myoclonic seizures

Drugs & Therapeutics for Cdkl5 Deficiency Disorder

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

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
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice. ( 28369421 )
2017
2
Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder. ( 28580010 )
2017
3
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. ( 27080038 )
2016
4
Functional abilities in children and adults with the CDKL5 disorder. ( 27528505 )
2016
5
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder. ( 26006105 )
2015

Variations for Cdkl5 Deficiency Disorder

ClinVar genetic disease variations for Cdkl5 Deficiency Disorder:

6
(show top 50) (show all 343)
# 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 CDKL5, 2-BP INS, 903GA insertion Pathogenic
19 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
20 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh38 Chromosome X, 18584332: 18584332
21 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
22 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh38 Chromosome X, 18584332: 18584332
23 CDKL5 NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs267608561 GRCh37 Chromosome X, 18622083: 18622083
24 CDKL5 NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs267608561 GRCh38 Chromosome X, 18603963: 18603963
25 CDKL5 NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs) deletion Pathogenic rs267608565 GRCh37 Chromosome X, 18622123: 18622123
26 CDKL5 NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs) deletion Pathogenic rs267608565 GRCh38 Chromosome X, 18604003: 18604003
27 CDKL5 NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs) duplication Pathogenic rs267608566 GRCh37 Chromosome X, 18622126: 18622126
28 CDKL5 NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs) duplication Pathogenic rs267608566 GRCh38 Chromosome X, 18604006: 18604006
29 CDKL5 NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter) single nucleotide variant Pathogenic rs267608618 GRCh37 Chromosome X, 18622282: 18622282
30 CDKL5 NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter) single nucleotide variant Pathogenic rs267608618 GRCh38 Chromosome X, 18604162: 18604162
31 CDKL5 NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg) single nucleotide variant Pathogenic rs267608429 GRCh37 Chromosome X, 18582622: 18582622
32 CDKL5 NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg) single nucleotide variant Pathogenic rs267608429 GRCh38 Chromosome X, 18564502: 18564502
33 CDKL5 NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs) deletion Likely pathogenic rs267608433 GRCh37 Chromosome X, 18593491: 18593494
34 CDKL5 NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs) deletion Likely pathogenic rs267608433 GRCh38 Chromosome X, 18575371: 18575374
35 CDKL5 NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic rs267608643 GRCh37 Chromosome X, 18622692: 18622692
36 CDKL5 NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic rs267608643 GRCh38 Chromosome X, 18604572: 18604572
37 CDKL5 NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter) single nucleotide variant Pathogenic rs267608395 GRCh37 Chromosome X, 18622719: 18622719
38 CDKL5 NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter) single nucleotide variant Pathogenic rs267608395 GRCh38 Chromosome X, 18604599: 18604599
39 CDKL5 NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs62653623 GRCh37 Chromosome X, 18593503: 18593503
40 CDKL5 NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs62653623 GRCh38 Chromosome X, 18575383: 18575383
41 CDKL5 NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs) deletion Pathogenic rs62643608 GRCh37 Chromosome X, 18593511: 18593511
42 CDKL5 NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs) deletion Pathogenic rs62643608 GRCh38 Chromosome X, 18575391: 18575391
43 CDKL5 NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro) single nucleotide variant Likely pathogenic rs267608435 GRCh37 Chromosome X, 18593519: 18593519
44 CDKL5 NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro) single nucleotide variant Likely pathogenic rs267608435 GRCh38 Chromosome X, 18575399: 18575399
45 CDKL5 NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter) single nucleotide variant Pathogenic rs267608647 GRCh37 Chromosome X, 18626940: 18626940
46 CDKL5 NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter) single nucleotide variant Pathogenic rs267608647 GRCh38 Chromosome X, 18608820: 18608820
47 CDKL5 NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe) single nucleotide variant Pathogenic rs267608437 GRCh37 Chromosome X, 18593527: 18593527
48 CDKL5 NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe) single nucleotide variant Pathogenic rs267608437 GRCh38 Chromosome X, 18575407: 18575407
49 CDKL5 NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs) deletion Pathogenic rs267608648 GRCh37 Chromosome X, 18627002: 18627002
50 CDKL5 NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs) deletion Pathogenic rs267608648 GRCh38 Chromosome X, 18608882: 18608882

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

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