ORPHA:505652
CDKL5-deficiency disorder
Synonyms: CDD
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CDKL5-deficiency disorder | CDD |
| fr | Trouble du déficit en CDKL5 | CDD · Syndrome CDKL5 · Trouble CDKL5 |
| de | CDKL5-Mangel-Syndrom | CDD · CDKL5-Gen-Defekt · CDKL5-Krankheit |
| es | Trastorno de deficiencia de CDKL5 | |
| it | Malattia da deficit di CDKL5 | = en |
| nl | CDKL5-deficiëntiestoornis | = en |
| pt | Doença devido a deficiência CDKL5 | |
| pl | Encefalopatia padaczkowa związana z CDKL5 | Zaburzenie z niedoboru CDKL5 |
| cs | CDKL5-vázaná epileptická encefalopatie | Deficit CDKL5 · Poruchy způsobené mutací CDKL5 · Porucha způsobená deficitem CDKL5 |
| uk | Дефіцит CDKL5 | = en |
| zh | CDKL5基因相关的癫痫脑病 | CDKL5基因缺陷性疾病 |
| tr | CDKL5-ilişkili epileptik ensefalopati | CDKL5 eksikliği bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300672 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0010396 | E | validated | |
| MeSH | C564064 | E | validated | |
| UMLS | C4750718 | E | validated | |
| GARD | 12173 | E | validated | |
| MedDRA | 10083005 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:306765Motor stereotypies
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:168778Rare pervasive developmental disorder
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKL5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11411 | ENSG00000008086 | 300203 | Xp22.13 | cyclin dependent kinase like 5 | 22872100[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Validated | EpiCARE[EXPERT]_31302675[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 / 100 000 | Australia | Value and class | Validated | 29264392[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.36 / 100 000 | United Kingdom | Value and class | Validated | 31302675[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_22872100[PMID]_24564546[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
52 annotations · validated 2024-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010818 | Generalized tonic seizure | |
| Frequent (79-30%) | ||
| HP:0003808 | Abnormal muscle tone | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000337 | Broad forehead | |
| HP:0009852 | Broad proximal phalanges of the hand | |
| HP:0003763 | Bruxism | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0033850 | Coldness | |
| HP:0002019 | Constipation | |
| HP:0002002 | Deep philtrum | |
| HP:0000490 | Deeply set eye | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0011968 | Feeding difficulties | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0012469 | Infantile spasms | |
| HP:0001249 | Intellectual disability | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0032794 | Myoclonic seizure | |
| HP:0002421 | Poor head control | |
| HP:0011220 | Prominent forehead | |
| HP:0000817 | Reduced eye contact | |
| HP:0011344 | Severe global developmental delay | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0012171 | Stereotypical hand wringing | |
| HP:5200061 | Tactile hypersensitivity | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
| HP:0002072 | Chorea | |
| HP:0001332 | Dystonia | |
| HP:0000565 | Esotropia | |
| HP:0000577 | Exotropia | |
| HP:0001822 | Hallux valgus | |
| HP:0000348 | High forehead | |
| HP:0002883 | Hyperventilation | |
| HP:0002808 | Kyphosis | |
| HP:0000252 | Microcephaly | |
| HP:0000341 | Narrow forehead | |
| HP:0000749 | Paroxysmal bursts of laughter | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0000664 | Synophrys | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 35483386[PMID]_38603524[PMID]_33989939[PMID]_22872100[PMID]_27081548[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/505652
- This record as JSON: /data/d/505652.json