MCID: CDK005
MIFTS: 10

Cdkl5-Related Disorder

Categories: Rare diseases

Aliases & Classifications for Cdkl5-Related Disorder

MalaCards integrated aliases for Cdkl5-Related Disorder:

Name: Cdkl5-Related Disorder 50
Cdkl5 Disorder 50
Cdkl5 50

Classifications:



Summaries for Cdkl5-Related Disorder

NIH Rare Diseases : 50 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 cdkl5 disorder, is related to rett syndrome and encephalopathy.

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

Drugs & Therapeutics for Cdkl5-Related Disorder

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

Genetic Tests for Cdkl5-Related Disorder

Anatomical Context for Cdkl5-Related Disorder

Publications for Cdkl5-Related Disorder

Articles related to Cdkl5-Related Disorder:

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

Variations for Cdkl5-Related Disorder

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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....