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Disease Profile
CDKL5 deficiency disorder
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CDKL5; CDKL5 disorder; Early infantile epileptic encephalopathy-2;
Summary
CDKL5 deficiency disorder is a genetic disorder that causes
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 1%-4% of people have these symptoms | ||
| 0010845 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
| Cerebral visual impairment | 0100704 | |
| Constipation | 0002019 | |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
| Epileptic |
0200134 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Generalized myoclonic |
0002123 | |
| Global |
0001263 | |
| Hyperventilation |
Rapid breathing
|
0002883 |
| Hypsarrhythmia | 0002521 | |
| Inability to walk | 0002540 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
| Infantile spasms | 0012469 | |
|
IQ less than 20
|
0002187 | |
| Multifocal seizures | 0031165 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Myoclonus | 0001336 | |
| Poor eye contact | 0000817 | |
| Progressive |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| 0002650 | ||
| Seizure | 0001250 | |
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Short palm | 0004279 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
| 0001423 | ||
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
CDKL5 Canada
55 Glen Rd.
Toronto, ON , M4W 2V3 Canada
E-mail: https://www.cdkl5canada.ca/contact-us
Website: https://www.cdkl5canada.ca/ -
International Foundation for CDKL5 Research (IFCR)
P.O. Box 926
Wadsworth, OH 44282
Telephone: +1-330-294-5005
E-mail: info@cdkl5.com
Website: https://www.cdkl5.com/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The Epilepsy Foundation provides information on CDKL5 deficiency disorder.
- The International Foundation for CDKL5 Research has an Introductory Guide on CDKL5 deficiency disorder that includes information on history, diagnosis, symptoms, treatments, therapies, resources, and more.
- Genetics Home Reference (GHR) contains information on CDKL5 deficiency disorder. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Selected Full-Text Journal Articles
- Mangatt M, Wong K, Anderson B, et al. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet Journal of Rare Diseases. 2016;11:39.
- Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152. Epub 2011 Sep 13.
- Fehr S, Wilson M, Downs J, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013 Mar;21(3):266-73.
References
- Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. April 2012; 2(3-5):137-152.
- Mangatt M, Wong K, Anderson B, et al. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet Journal of Rare Diseases. 2016; 11:39. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832563/.
- Fehr S, Wong K, Chin R, et al. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology. November 22, 2016; 87(21):2206-2213. https://www.ncbi.nlm.nih.gov/pubmed/27770071.
- Fehr S, Wilson M, Downs J, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. March 2013; 21(3):266-73. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573195/.