X-linked intellectual disability due to GRIA3 mutations
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability due to GRIA3 mutations | |
| fr | Déficience intellectuelle liée à l'X par mutations de GRIA3 | |
| de | Intelligenzminderung, X-chromosomale, durch GRIA3-Mutationen | |
| es | Discapacidad intelectual ligada al cromosoma X por mutaciones en el gen GRIA3 | |
| it | Disabilità intellettiva legata all'X da mutazione di GRIA3 | |
| nl | X-gebonden intellectuele achterstand door GRIA3-mutaties | |
| pt | Perturbação do desenvolvimento intelectual devido a mutações GRIA3 ligada ao X | |
| pl | Niepełnosprawność intelektualna z anomaliami w wyniku mutacji w GRIA3 sprzężona z chromosomem X | |
| cs | X-vázané mentální postižení způsobené GRIA3 anomáliemi | |
| uk | Х-зчеплена розумова відсталість, зумовлена мутаціями GRIA3 | |
| zh | GRIA3基因突变所致X连锁智力障碍 | |
| tr | GRIA3 mutasyonları nedeniyle X'e bağlı zihinsel yetersizlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300699 | E | validated | |
| ICD-10 | F72 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0018222 | E | validated | |
| UMLS | C5191041 | 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 (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIA3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4573 | ENSG00000125675 | 305915 | Xq25 | glutamate ionotropic receptor AMPA type subunit 3 | 17989220[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 24721225[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24721225[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
57 annotations · validated 2019-09-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001250 | Seizure | |
| HP:0001533 | Slender build | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0030236 | Abnormality of muscle size | |
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0008936 | Axial hypotonia | |
| HP:0003487 | Babinski sign | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000248 | Brachycephaly | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0002460 | Distal muscle weakness | |
| HP:0007655 | Eversion of lateral third of lower eyelids | |
| HP:0000297 | Facial hypotonia | |
| HP:0002816 | Genu recurvatum | |
| HP:0000126 | Hydronephrosis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001265 | Hyporeflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000256 | Macrocephaly | |
| HP:0000675 | Macrodontia of permanent maxillary central incisor | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000054 | Micropenis | |
| HP:0001270 | Motor delay | |
| HP:0001336 | Myoclonus | |
| HP:0000189 | Narrow palate | |
| HP:0000194 | Open mouth | |
| HP:0007021 | Pain insensitivity | |
| HP:0001763 | Pes planus | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000508 | Ptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0000817 | Reduced eye contact | |
| HP:0006951 | Retrocerebellar cyst | |
| HP:0002650 | Scoliosis | |
| HP:0000742 | Self-mutilation | |
| HP:0006863 | Severe expressive language delay | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000188 | Short upper lip | |
| HP:0002360 | Sleep abnormality | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0001257 | Spasticity | |
| HP:0002133 | Status epilepticus | |
| HP:0012471 | Thick vermilion border | |
| HP:0009909 | Uplifted earlobe | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22124977[PMID]_23637084[PMID]_24721225[PMID]_19449417[PMID]_17989220[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364028
- This record as JSON: /data/d/364028.json