Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
historical
Synonyms: Shokeir syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- historical
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome | Shokeir syndrome |
| fr | Syndrome d'alopécie-épilepsie-pyorrhée-déficience intellectuelle | Syndrome de Shokeir |
| de | Alopezie-Epilepsie-Pyorrhoe-Intelligenzminderung-Syndrom | Shokeir-Syndrom |
| es | Síndrome de alopecia-epilepsia-piorrea-discapacidad intelectual | Síndrome de Shokeir |
| it | Sindrome alopecia-epilessia-piorrea-disabilità intellettiva | Sindrome di Shokeir |
| nl | Alopecie - epilepsie - pyorroe - intellectuele achterstand-syndroom | Syndroom van Shokeir |
| pt | Síndrome de alopecia-epilepsia-piorreia-perturbação do desenvolvimento intelectual | Síndrome Shokeir |
| pl | Zespół łysienia, padaczki, ropotoku i niepełnosprawności intelektualnej | Zespół Shokeira |
| cs | Syndrom zahrnující alopecii, epilepsii, pyorrheu a mentální retardaci | Shokeirův syndrom |
| uk | Синдром алопеції-епілепсії-піореї-інтелектуальної недостатності | Синдром Шокера |
| zh | 脱发-癫痫-脓溢-智力障碍综合征 | Shokeir综合征 |
| tr | Alopesi-epilepsi-pyorrhea-zihinsel yetersizlik sendromu | Shokeir sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104130 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0007085 | E | validated | |
| MeSH | C537057 | E | validated | |
| UMLS | C1863090 | E | validated | |
| GARD | 607 | 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 (3):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002289 | Alopecia universalis | |
| HP:0002353 | EEG abnormality | |
| HP:0000230 | Gingivitis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002354 | Memory impairment | |
| HP:0000704 | Periodontitis | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0000995 | Melanocytic nevus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1008
- This record as JSON: /data/d/1008.json