ANK3-related intellectual disability-sleep disturbance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ANK3-related intellectual disability-sleep disturbance syndrome | |
| fr | Syndrome de déficience intellectuelle-troubles du sommeil associé à ANK3 | |
| de | ANK3-assoziierte Intelligenzminderung-Sprachstörung-Schlafstörung-Syndrom | |
| es | Síndrome de discapacidad intelectual-trastorno del sueño asociado al gen ANK3 | |
| it | Sindrome da disabilità intellettiva e disturbi del sonno correlata ad ANK3 | |
| nl | ANK3-gerelateerd intellectuele achterstand - slaapstoornis-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-patologia do sono ANK3-relacionada | |
| pl | Zespół niepełnosprawności intelektualnej i zaburzeń snu związany z ANK3 | |
| cs | Syndrom zahrnující mentální retardaci, hypotonii, spasticitu a poruchy spánku | |
| uk | ANK3-асоційований синдром інтелектуальної недостатності та порушення сну | |
| zh | ANK3基因相关智力障碍-睡眠障碍综合征 | |
| tr | ANK3-ilişkili zihinsel yetersizlik-uyku bozukluğu sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615493 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0014210 | E | validated | |
| MONDO | 14210 | E | validated | |
| UMLS | C5192596 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANK3 | Disease-causing germline mutation(s) in | Assessed | HGNC:494 | ENSG00000151150 | 600465 | 10q21.2 | ankyrin 3 | 23390136[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 23390136[PMID]_28687526[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23390136[PMID]_28687526[PMID] |
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
13 annotations · validated 2019-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0003763 | Bruxism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000752 | Hyperactivity | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002360 | Sleep abnormality | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0001520 | Large for gestational age | |
| HP:0000256 | Macrocephaly | |
| HP:0001250 | Seizure | |
Annotation source: 28687526[PMID]_23390136[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/356996
- This record as JSON: /data/d/356996.json