ORPHA:1459
Celiac disease-epilepsy-cerebral calcification syndrome
Synonyms: CEC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Celiac disease-epilepsy-cerebral calcification syndrome | CEC |
| fr | Syndrome de maladie coeliaque-calcifications cérébrales-épilepsie | = en |
| de | Zöliakie-Epilepsie-zerebrale Verkalkungen-Syndrom | = en |
| es | Síndrome de enfermedad celíaca-epilepsia-calcificación cerebral | = en |
| it | Celiachia - epilessia - calcificazioni cerebrali | = en |
| nl | Coeliakie - epilepsie - cerebrale calcificatie-syndroom | = en |
| pt | Síndrome de doença celíaca-epilepsia-calcificações cerebrais | = en |
| pl | Celiakia, padaczka i zespół zwapnienia mózgu | = en |
| cs | Syndrom zahrnující celiakii, epilepsii a kalcifikace mozku | = en |
| uk | Синдром целіакії-епілепсії-кальцифікації головного мозку | = en |
| zh | 乳糜泻-癫痫-大脑钙化综合征 | = en |
| tr | Çölyak hastalığı-epilepsi-serebral kalsifikasyon sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226810 | E | validated | |
| ICD-10 | G40.8 | NTBT | attributed | validated |
| MONDO | 0009187 | E | validated | |
| UMLS | C4302597 | E | validated | |
| GARD | 2166 | 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 (1):
- ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 170 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1459
- This record as JSON: /data/d/1459.json