ORPHA:700160
ADNP-related blepharophimosis-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, 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 | ADNP-related blepharophimosis-intellectual disability syndrome | |
| fr | Syndrome de blépharophimosis-déficience intellectuelle associé à ADNP | |
| de | Blepharophimose-Intelligenzminderung-Syndrom, ADNP-assoziiertes | |
| es | Síndrome de blefarofimosis-discapacidad intelectual asociado a ADNP | |
| it | Sindrome blefarofimosi-disabilità intellettiva correlata ad ADNP | |
| nl | ADNP-gerelateerd blefarofimose - intellectuele achterstand-syndroom | |
| pt | ADNP-related blepharophimosis-intellectual disability syndrome | |
| pl | ADNP-related blepharophimosis-intellectual disability syndrome | |
| cs | ADNP-related blepharophimosis-intellectual disability syndrome |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:293642Blepharophimosis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADNP | Disease-causing germline mutation(s) in | Assessed | HGNC:15766 | ENSG00000101126 | 611386 | 20q13.13 | activity dependent neuroprotector homeobox | 38884529[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 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.
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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/700160
- This record as JSON: /data/d/700160.json