Proximal Xq28 duplication syndrome
Synonyms: MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal Xq28 duplication syndrome | MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type |
| fr | Syndrome de duplication Xq28 proximale | Syndrome de duplication MECP2 · Syndrome de déficience intellectuelle liée à l'X type Lubs |
| de | Xq28-Duplikationssyndrom, proximales | MECP2-Duplikations-Syndrom · X-chromosomale Intelligenzminderung Typ Lubs |
| es | Síndrome de duplicación Xq28 proximal | Síndrome de discapacidad intelectual ligado al cromosoma X, tipo Lubs · Síndrome de duplicación del gen MECP2 |
| it | Sindrome da duplicazione Xq28 prossimale | Sindrome da disabilità intellettiva legata all'X, tipo Lubs · Sindrome da duplicazione di MECP2 |
| nl | Proximale Xq28-duplicatiesyndroom | MECP2-duplicatiesyndroom · X-gebonden intellectuele achterstand-syndroom, Lubs-type |
| pt | Síndrome de duplicação proximal Xq28 | Síndrome de duplicação MECP2 · Síndrome de perturbação do desenvolvimento intelectual relacionado com o X, tipo Lubs |
| pl | Trisomia Xq28 | Dystalna duplikacja Xq · Telomerowa duplikacja Xq |
| cs | Trizomie Xq28 | Distální duplikace Xq · Telomerická duplikace Xq |
| uk | Синдром проксимальної дуплікації Xq28 | Синдром дуплікації MECP2 · Х-зчеплений синдром розумової відсталості, тип Любса |
| zh | Xq28三体 | X染色体长臂末端着丝粒重复 |
| tr | Trizomi Xq28 | Distal duplikasyon Xq · Telomerik duplikasyon Xq |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300260 | BTNT | validated | |
| OMIM | 300815 | BTNT | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD51 | NTBT | attributed | validated |
| MONDO | 0010283 | E | validated | |
| MeSH | C537723 | E | validated | |
| UMLS | C1846058 | E | validated | |
| GARD | 9781 | 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 (3):
- 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:263783Partial duplication of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:85281OBSOLETE: MECP2 duplication syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MECP2 | Role in the phenotype of | Assessed | HGNC:6990 | ENSG00000169057 | 300005 | Xq28 | methyl-CpG binding protein 2 | 17088400[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET_EXPERT |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 / 100 000 | Australia | Value and class | Validated | 30756435[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.07 / 100 000 | Australia | Value and class | Validated | 30756435[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000581 | Blepharophimosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001263 | Global developmental delay | |
| HP:0000047 | Hypospadias | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000508 | Ptosis | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0010804 | Tented upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0000767 | Pectus excavatum | |
| Occasional (29-5%) | ||
| HP:0001387 | Joint stiffness | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1762
- This record as JSON: /data/d/1762.json