X-linked epilepsy-learning disabilities-behavior disorders syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked epilepsy-learning disabilities-behavior disorders syndrome | |
| fr | Syndrome d'épilepsie liée à l'X-difficulté d'apprentissage-troubles du comportement | |
| de | X-chromosomale Epilepsie-Lernstörungen-Verhaltensstörungen-Syndrom | Syndrom der X-chromosomale Epilepsie mit Lernstörungen und Verhaltensauffälligkeiten |
| es | Síndrome de epilepsia ligada al cromosoma X-problemas de aprendizaje-trastornos conductuales | |
| it | Epilessia legata all'X - disturbi dell'apprendimento - disturbi del comportamento | |
| nl | X-gebonden epilepsie - leerstoornissen - gedragsstoornissen-syndroom | |
| pt | Síndrome de epilepsia ligada ao X-dificuldades de aprendizagem-perturbação comportamental | |
| pl | Padaczka sprzężona z chromosomem X - trudności w uczeniu się - zaburzenia zachowania | |
| cs | X-vázaný syndrom zahrnující epilepsii, poruchy učení a poruchy chování | |
| uk | Синдром Х-зчепленої епілепсії-порушення здатності до навчання-полрушення поведінки | |
| zh | X连锁癫痫-学习障碍-行为障碍综合征 | |
| tr | X'e bağlı epilepsi-öğrenme güçlüğü-davranış bozuklukları sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300491 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010339 | E | validated | |
| UMLS | C4273990 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:166472Monogenic disease with epilepsy
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SYN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11494 | ENSG00000008056 | 313440 | Xp11.3-p11.23 | synapsin I | 14985377[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000256 | Macrocephaly | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85294
- This record as JSON: /data/d/85294.json