ORPHA:163681
CNTNAP2-related developmental and epileptic encephalopathy
Synonyms: CDFE syndrome · CDFES · CNTNAP2-related DEE · Cortical dysplasia-focal epilepsy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CNTNAP2-related developmental and epileptic encephalopathy | CDFE syndrome · CDFES · CNTNAP2-related DEE · Cortical dysplasia-focal epilepsy syndrome |
| fr | Encéphalopathie épileptique et développementale associée à CNTNAP2 | Syndrome de dysplasie corticale-épilepsie focale |
| de | CNTNAP2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie | CDFE-Syndrom · CDFES · CNTNAP2-bezogene DEE · Kortikale Dysplasie-fokale Epilepsie-Syndrom |
| es | Encefalopatía epiléptica y del desarrollo asociada a CNTNAP2 | CDFES · Síndrome CDFE · Síndrome de displasia cortical-epilepsia focal |
| it | Encefalopatia epilettica e dello sviluppo correlata a CNTNAP2 | |
| nl | CNTNAP2-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie | CDFE-syndroom · CDFES · CNTNAP2-gerelateerde DEE · Corticale dysplasie - focale epilepsie-syndroom |
| pt | Encefalopatia epiléptica e do desenvolvimento CNTNAP2-relacionada | Síndrome de displasia cortical-epilepsia focal |
| pl | Dysplazja kory mózgowej z padaczką ogniskową | = en |
| cs | Fokální epilepsie na podkladě kortikální dysplázie | = en |
| uk | CNTNAP2-залежна епілептична енцефалопатія розвитку | Синдром CDFE · CDFES · DEE, повязані з CNTNAP2 · Синдром фокальної епілепсії з кортикальною дисплазією |
| zh | 皮质发育不良型癫痫综合症 | CDFE综合征 |
| tr | Kortikal displazi-fokal epilepsi sendromu | CDFES · CDFE sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610042 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0012400 | E | validated | |
| UMLS | C5575702 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:221150OBSOLETE: Pitt-Hopkins-like syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNTNAP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13830 | ENSG00000174469 | 604569 | 7q35-q36.1 | contactin associated protein 2 | 16571880[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Cases/families | 28 cases | Worldwide | Case(s) | ORPHANET |
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
49 annotations · validated 2021-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012757 | Abnormal neuron morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0012001 | EEG with generalized polyspikes | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0001268 | Mental deterioration | |
| HP:0001270 | Motor delay | |
| HP:0002465 | Poor speech | |
| HP:0007064 | Progressive language deterioration | |
| Occasional (29-5%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0000717 | Autism | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0100021 | Cerebral palsy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011193 | EEG with focal spikes | |
| HP:0011968 | Feeding difficulties | |
| HP:0002240 | Hepatomegaly | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0004879 | Intermittent hyperventilation | |
| HP:0000744 | Low frustration tolerance | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001761 | Pes cavus | |
| HP:0100258 | Preaxial polydactyly | |
| HP:0000826 | Precocious puberty | |
| HP:0010863 | Receptive language delay | |
| HP:0000817 | Reduced eye contact | |
| HP:0000742 | Self-mutilation | |
| HP:0012166 | Skin-picking | |
| HP:0012171 | Stereotypical hand wringing | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 24916270[PMID]_27439707[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163681
- This record as JSON: /data/d/163681.json