CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Craniodiaphyseal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 Biomarker disease BEFREE Here we present evidence suggesting CLIP170 contributes to neuronal CDKL5-dependent defects and that it represents an important novel druggable target for CDD; indeed, CLIP170 is directly targeted by the neuroactive steroid pregnenolone (PREG), which induces the active conformation of the protein thus promoting MT-dynamics. 31794725 2020
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE We demonstrate that targeting impaired 5-HT signaling via the selective serotonin reuptake inhibitor (SSRI) sertraline rescues CDD-related neurodevelopmental and behavioral defects in heterozygous Cdkl5 KO female mice. 31469994 2020
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD). 31313283 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause CDKL5 Deficiency Disorder (CDD), a rare neurodevelopmental syndrome characterized by severe behavioural and physiological symptoms.No cure is available for CDD. 30326240 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 Biomarker disease BEFREE <i>Cdkl5</i> knockout (KO) mouse models, recently created to investigate the role of CDKL5 in the etiology of CDD, recapitulate various features of the disorder. 31114483 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene cause CDKL5 Deficiency Disorder (CDD), a severe neurodevelopmental syndrome where patients exhibit early-onset seizures, intellectual disability, stereotypies, limited or absent speech, autism-like symptoms and sensory impairments. 31472213 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE The CDKL5 deficiency disorder (CDD) is a rare condition caused by spontaneous mutations on the cyclin-dependent kinase-like 5 (CDKL5) gene. 30561084 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE Pathogenic mutations in cyclin-dependent kinase-like 5 (<i>CDKL5</i>) result in CDKL5 deficiency disorder (CDD), a rare disease marked by early-life seizures, autistic behaviors, and intellectual disability. 30952813 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 GeneticVariation disease BEFREE We review the clinical presentations and genetic variations in CDD based on a systematic literature review and experience in the CDKL5 Centers of Excellence.We propose minimum diagnostic criteria. 30928302 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 Biomarker disease BEFREE Our finding reveals a new function for CDKL5 in maintaining neuronal survival that could have important implications for susceptibility to neurodegeneration in patients with CDD. 30793413 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		0.100 Biomarker disease BEFREE CDD mouse models also display visual deficits, and cortical visual responses can be used as a robust biomarker in CDKL5 mutant mice. 31108505 2019