Aliases & Classifications for Cdkl5-Related Disorder

MalaCards integrated aliases for Cdkl5-Related Disorder:

Name: Cdkl5-Related Disorder 49
Early Infantile Epileptic Encephalopathy 2 24 28
Cdkl5 Disorder 49 24
X-Linked Dominant Infantile Spasm Syndrome-2 49
Early Infantile Epileptic Encephalopathy-2 49
Cdkl5-Related Epileptic Encephalopathy 24
Cdkl5 Deficiency Disorder 24
Cdkl5-Related Epilepsy 24
Cdkl5 Encephalopathy 24
Cdkl5 Deficiency 24
Cdkl5 49

Classifications:



Summaries for Cdkl5-Related Disorder

NIH Rare Diseases : 49 A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic. In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism. However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions. Last updated: 7/28/2014

MalaCards based summary : Cdkl5-Related Disorder, also known as early infantile epileptic encephalopathy 2, is related to rett syndrome and encephalopathy, and has symptoms including myoclonic seizures, difficulty sleeping and myoclonus. An important gene associated with Cdkl5-Related Disorder is CDKL5 (Cyclin Dependent Kinase Like 5).

Genetics Home Reference : 24 CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.

Related Diseases for Cdkl5-Related Disorder

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



Diseases related to Cdkl5-Related Disorder

Symptoms & Phenotypes for Cdkl5-Related Disorder

UMLS symptoms related to Cdkl5-Related Disorder:


myoclonic seizures, difficulty sleeping, myoclonus, constipation

Drugs & Therapeutics for Cdkl5-Related Disorder

Search Clinical Trials , NIH Clinical Center for Cdkl5-Related Disorder

Genetic Tests for Cdkl5-Related Disorder

Genetic tests related to Cdkl5-Related Disorder:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 2 28 CDKL5

Anatomical Context for Cdkl5-Related Disorder

Publications for Cdkl5-Related Disorder

Articles related to Cdkl5-Related Disorder:

# Title Authors Year
1
iPS cells to model CDKL5-related disorders. ( 21750574 )
2011

Variations for Cdkl5-Related Disorder

ClinVar genetic disease variations for Cdkl5-Related Disorder:

6 (show top 50) (show all 117)
# 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.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh37 Chromosome X, 18602444: 18602444
5 CDKL5 CDKL5, 4-BP DEL, 166GAAA deletion Pathogenic
6 CDKL5 CDKL5, 2-BP DEL, 2636CT deletion Pathogenic
7 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh37 Chromosome X, 18646494: 18646494
8 CDKL5 CDKL5, IVS6AS, G-T, -1 single nucleotide variant Pathogenic
9 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh37 Chromosome X, 18582616: 18582616
10 CDKL5 NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile) single nucleotide variant Pathogenic rs267606713 GRCh37 Chromosome X, 18616619: 18616619
11 CDKL5 CDKL5, 2-BP INS, 903GA insertion Pathogenic
12 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
13 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
14 CDKL5 NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs267608561 GRCh37 Chromosome X, 18622083: 18622083
15 CDKL5 NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs) deletion Pathogenic rs267608565 GRCh37 Chromosome X, 18622123: 18622123
16 CDKL5 NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs) duplication Pathogenic rs267608566 GRCh37 Chromosome X, 18622126: 18622126
17 CDKL5 NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter) single nucleotide variant Pathogenic rs267608618 GRCh37 Chromosome X, 18622282: 18622282
18 CDKL5 NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg) single nucleotide variant Pathogenic rs267608429 GRCh37 Chromosome X, 18582622: 18582622
19 CDKL5 NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs) deletion Pathogenic rs267608433 GRCh37 Chromosome X, 18593491: 18593494
20 CDKL5 NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic rs267608643 GRCh37 Chromosome X, 18622692: 18622692
21 CDKL5 NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter) single nucleotide variant Pathogenic rs267608395 GRCh37 Chromosome X, 18622719: 18622719
22 CDKL5 NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs62653623 GRCh37 Chromosome X, 18593503: 18593503
23 CDKL5 NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs) deletion Pathogenic rs62643608 GRCh37 Chromosome X, 18593511: 18593511
24 CDKL5 NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter) single nucleotide variant Pathogenic rs267608647 GRCh37 Chromosome X, 18626940: 18626940
25 CDKL5 NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267608437 GRCh37 Chromosome X, 18593527: 18593527
26 CDKL5 NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs) deletion Pathogenic rs267608648 GRCh37 Chromosome X, 18627002: 18627002
27 CDKL5 NM_003159.2(CDKL5): c.2016dupC (p.Ser673Leufs) duplication Pathogenic rs267608649 GRCh37 Chromosome X, 18627002: 18627002
28 CDKL5 NM_003159.2(CDKL5): c.2066delC (p.Pro689Hisfs) deletion Pathogenic rs267608651 GRCh37 Chromosome X, 18627604: 18627604
29 CDKL5 NM_003159.2(CDKL5): c.2152G> A (p.Val718Met) single nucleotide variant Pathogenic/Likely pathogenic rs267608653 GRCh37 Chromosome X, 18627690: 18627690
30 CDKL5 NM_003159.2(CDKL5): c.229_232delGAAG (p.Glu77Hisfs) deletion Pathogenic rs267608441 GRCh37 Chromosome X, 18593557: 18593560
31 CDKL5 NM_003159.2(CDKL5): c.2325_2326delGA (p.Lys776Alafs) deletion Pathogenic rs267608654 GRCh37 Chromosome X, 18638035: 18638036
32 CDKL5 NM_003159.2(CDKL5): c.2363_2367delAGAAA (p.Lys788Ilefs) deletion Pathogenic rs267608655 GRCh37 Chromosome X, 18638073: 18638077
33 CDKL5 NM_003159.2(CDKL5): c.2413C> T (p.Gln805Ter) single nucleotide variant Pathogenic rs267608659 GRCh37 Chromosome X, 18643284: 18643284
34 CDKL5 NM_003159.2(CDKL5): c.2504delC (p.Pro835Hisfs) deletion Pathogenic rs267608660 GRCh37 Chromosome X, 18646498: 18646498
35 CDKL5 NM_003159.2(CDKL5): c.2529delA (p.Leu843Phefs) deletion Pathogenic rs267608661 GRCh37 Chromosome X, 18646523: 18646523
36 CDKL5 NM_003159.2(CDKL5): c.2572delC (p.Arg858Alafs) deletion Pathogenic rs267608662 GRCh37 Chromosome X, 18646566: 18646566
37 CDKL5 NM_003159.2(CDKL5): c.2593C> T (p.Gln865Ter) single nucleotide variant Pathogenic rs267608663 GRCh37 Chromosome X, 18646587: 18646587
38 CDKL5 NM_003159.2(CDKL5): c.2635_2636delCT (p.Leu879Glufs) deletion Pathogenic rs61753251 GRCh37 Chromosome X, 18646629: 18646630
39 CDKL5 NM_003159.2(CDKL5): c.39delT (p.Phe13Leufs) deletion Pathogenic rs267608415 GRCh37 Chromosome X, 18525255: 18525255
40 CDKL5 NM_003159.2(CDKL5): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs267608472 GRCh37 Chromosome X, 18598085: 18598085
41 CDKL5 NM_003159.2(CDKL5): c.425T> A (p.Leu142Ter) single nucleotide variant Pathogenic rs267608477 GRCh37 Chromosome X, 18600032: 18600032
42 CDKL5 NM_003159.2(CDKL5): c.513C> A (p.Tyr171Ter) single nucleotide variant Pathogenic rs267608490 GRCh37 Chromosome X, 18602432: 18602432
43 CDKL5 NM_003159.2(CDKL5): c.532C> T (p.Arg178Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267608493 GRCh37 Chromosome X, 18602451: 18602451
44 CDKL5 NM_003159.2(CDKL5): c.539C> T (p.Pro180Leu) single nucleotide variant Pathogenic rs61749704 GRCh37 Chromosome X, 18602458: 18602458
45 CDKL5 NM_003159.2(CDKL5): c.549dupA (p.Leu184Thrfs) duplication Pathogenic rs267608497 GRCh37 Chromosome X, 18602468: 18602468
46 CDKL5 NM_003159.2(CDKL5): c.578A> G (p.Asp193Gly) single nucleotide variant Pathogenic rs267608500 GRCh37 Chromosome X, 18606097: 18606097
47 CDKL5 NM_003159.2(CDKL5): c.587C> T (p.Ser196Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267608501 GRCh38 Chromosome X, 18587986: 18587986
48 CDKL5 NM_003159.2(CDKL5): c.659T> C (p.Leu220Pro) single nucleotide variant Pathogenic rs267608511 GRCh37 Chromosome X, 18606178: 18606178
49 CDKL5 NM_003159.2(CDKL5): c.65dupG (p.Ala23Serfs) duplication Pathogenic rs267608420 GRCh37 Chromosome X, 18528940: 18528940
50 CDKL5 NM_003159.2(CDKL5): c.801_802delTA (p.Asn267Lysfs) deletion Pathogenic rs267608528 GRCh37 Chromosome X, 18613524: 18613525

Expression for Cdkl5-Related Disorder

Search GEO for disease gene expression data for Cdkl5-Related Disorder.

Pathways for Cdkl5-Related Disorder

GO Terms for Cdkl5-Related Disorder

Sources for Cdkl5-Related Disorder

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