Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Synonyms: Dias-Logan syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asympthomatic persistance of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome | Dias-Logan syndrome |
| fr | Syndrome de persistance héréditaire de l'hémoglobine foetale-déficience intellectuelle | Syndrome de Dias-Logan |
| de | Hereditäre Persistenz des fetalen Hämoglobins-Intelligenzminderung-Syndrom | Dias-Logan-Syndrom |
| es | Síndrome de persistencia hereditaria de hemoglobina fetal-discapacidad intelectual | Síndrome de Dias-Logan |
| it | Sindrome da persistenza ereditaria dellemoglobina fetale e disabilità intellettiva | Sindrome di Dias-Logan |
| nl | Hereditaire persistentie van foetaal hemoglobine - intellectuele achterstand-syndroom | Syndroom van Dias-Logan |
| pt | Síndrome de persistência de hemoglobina fetal-perturbação do desenvolvimento intelectual hereditária | Síndrome Dias-Logan |
| pl | Wrodzony zespół przetrwałej hemoglobiny płodowej-niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující dědičnou perzistenci fetálního hemoglobinu a mentální retardaci | = en |
| uk | Синдром спадкової персистенції фетального гемоглобіну-інтелектуальної недостатності | Синдром Діаса-Логана |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617101 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 3A50.4 | NTBT | attributed | validated |
| MONDO | 0850059 | E | validated | |
| UMLS | C4310833 | E | validated | |
| MedDRA | 10090512 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:158300Rare genetic hematologic disease
rare genetic diseases - ORPHA:97992Rare hematologic disease
rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCL11A | Disease-causing germline mutation(s) in | Assessed | HGNC:13221 | ENSG00000119866 | 606557 | 2p16.1 | BCL11 transcription factor A | 27453576[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 27453576[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27453576[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/619233
- This record as JSON: /data/d/619233.json