FRAXE intellectual disability
Synonyms: Intellectual disability associated with fragile site FRAXE
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FRAXE intellectual disability | Intellectual disability associated with fragile site FRAXE |
| fr | Déficience intellectuelle FRAXE | Déficience intellectuelle associée au site fragile FRAXE |
| de | FRAXE-Syndrom | Fragiles XE-Syndrom · Intelligenzminderung assoziiert mit FRAXE |
| es | Discapacidad intelectual FRAXE | Discapacidad intelectual asociada al sitio frágil FRAXE |
| it | Deficit cognitivo FRAXE | Deficit cognitivo associato a sito fragile FRAXE |
| nl | FRAXE-intellectuele achterstand | Intellectuele achterstand geassocieerd met fragiele site FRAXE |
| pt | Perturbação do desenvolvimento intelectual FRAXE | Perturbação do desenvolvimento intelectual FRAXE-associada |
| pl | Niepełnosprawność intelektualna FRAXE | Niepełnosprawność intelektualna związana z łamliwością FRAXE |
| cs | FRAXE mentální retardace | Mentální retardace související s fragilním místem FRAXE |
| uk | Інтелектуальна недостатність FRAXE | Інтелектуальна недостатність, повязана з ламким сайтом FRAXE |
| zh | X连锁飞梭脆性部位相关型智力障碍 | FRAXE片段相关智力障碍 |
| tr | FRAXE zihinsel yetersizlik | Frajil bölgeli FRAXE ile ilişkili zihinsel yetersizlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309548 | E | validated | |
| ICD-10 | Q99.2 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010659 | E | validated | |
| UMLS | C4274328 | E | validated | |
| GARD | 2378 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AFF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3776 | ENSG00000155966 | 300806 | Xq28 | ALF transcription elongation factor 2 | 21739600[PMID] |
| FMR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3777 | Xq28 | fragile X mental retardation associated 3 | 16469443[PMID]_11015457[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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.
HPO phenotypes
21 annotations · validated 2019-05-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000713 | Agitation | |
| HP:0000729 | Autistic behavior | |
| HP:0002312 | Clumsiness | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000286 | Epicanthus | |
| HP:0001609 | Hoarse voice | |
| HP:0000752 | Hyperactivity | |
| HP:0100710 | Impulsivity | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009904 | Prominent ear helix | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0100023 | Recurrent hand flapping | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000256 | Macrocephaly | |
| HP:0012172 | Stereotypical body rocking | |
Annotation source: 8651274[PMID]_21739600[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100973
- This record as JSON: /data/d/100973.json