ORPHA:708203
Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome
Synonyms: SMC1A-related intellectual disability-small hands and feet-drug-resistant epilepsy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome | SMC1A-related intellectual disability-small hands and feet-drug-resistant epilepsy syndrome |
| fr | Syndrome de déficience intellecutelle-petites mains et pieds-épilepsie réfractaire | Syndrome de déficience intellecutelle-petites mains et pieds-épilepsie réfractaire associée à SMC1A |
| de | Intelligenzminderung-kleine Hände und Füße-medikamentenresistente Epilepsie-Syndrom | SMC1A-assoziiertes Intelligenzminderung-Syndrom |
| es | Síndrome de discapacidad intelectual-manos y pies pequeños-epilepsia farmacorresistente | Síndrome de discapacidad intelectual-manos y pies pequeños-epilepsia farmacorresistente asociado a SMC1A |
| it | Sindrome disabilità intellettiva-mani e piedi piccoli-epilessia farmaco resistente | Sindrome disabilità intellettiva-mani e piedi piccoli-epilessia farmaco resistente correlata a SMC1A |
| nl | Intellectuele achterstand - kleine handen en voeten - refractaire epilepsie-syndroom | SMC1A-gerelateerd intellectuele achterstand - kleine handen en voeten - refractaire epilepsie-syndroom |
| pt | Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome | |
| pl | Zespół niepełnosprawności intelektualnej, małych dłoni i stóp oraz padaczki lekoopornej | = en |
| cs | Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301044 | NTBT | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMC1A | Disease-causing germline mutation(s) in | Assessed | HGNC:11111 | ENSG00000072501 | 300040 | Xp11.22 | structural maintenance of chromosomes 1A | 26752331[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26752331[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26752331[PMID]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708203
- This record as JSON: /data/d/708203.json