ORPHA:93945
X-linked intellectual disability, Porteous type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
This disease is described under Renpenning syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Porteous type | |
| fr | Déficience intellectuelle liée à l'X type Porteous | |
| de | Intelligenzminderung, X-chromosomale, Typ Porteous | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Porteous | |
| it | Disabilità intellettiva legata all'X, tipo Porteous | |
| nl | X-gebonden intellectuele achterstand, Porteous-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Porteous | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Porteousa | |
| cs | X-vázaná mentální retardace, Porteousův typ | |
| uk | Х-зчеплена розумова відсталість, тип Портеуса | |
| zh | X-连锁智力障碍，Porteous型 | |
| tr | X'e bağlı zihinsel yetersizlik, Porteous tipi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309500 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0019766 | E | validated | |
| UMLS | C5681616 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:3242Renpenning syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PQBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
14 annotations · validated 2020-09-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0000378 | Cupped ear | |
| HP:0004325 | Decreased body weight | |
| HP:0002292 | Frontal balding | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000275 | Narrow face | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30143497[PMID]_15782410[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93945
- This record as JSON: /data/d/93945.json