ORPHA:217377
Microduplication Xp11.22p11.23 syndrome
Synonyms: Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microduplication Xp11.22p11.23 syndrome | Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23 |
| fr | Syndrome de microduplication Xp11.22p11.23 | Dup(X)(p11.22p11.23) · Trisomie Xp11.22p11.23 |
| de | Mikroduplikationssyndrom Xp11.22-p11.23 | Dup(X)(p11.22p11.23) · Trisomie Xp11.22-p11.23 |
| es | Síndrome de microduplicación Xp11.22-p11.23 | Dup(X)(p11.22p11.23) · Trisomía Xp11.22p11.23 |
| it | Sindrome da microduplicazione Xp11.22-p11.23 | Trisomia Xp11.22-p11.23 |
| nl | Xp11.22p11.23-microduplicatiesyndroom | Dup(X)(p11.22p11.23) · Trisomie Xp11.22p11.23 |
| pt | Síndrome de microduplicação Xp11.22p11.23 | Dup(X)(p11.22p11.23) · Trissomia Xp11.22-p11.23 |
| pl | Zespół mikroduplikacji Xp11.22p11.23 | Trisomia Xp11.22-p11.23 |
| cs | Syndrom mikroduplikace Xp11.22-p11.23 | Trizomie Xp11.22-p11.23 |
| uk | Синдром мікродуплікації Xp11.22p11.23 | Dup(X)(p11.22p11.23) · Трисомія Xp11.22p11.23 |
| zh | Xp11.22p11.23微重复综合征 | Xp11.22p11.23三体 |
| tr | Mikroduplikasyon Xp11.22p11.23 sendromu | Dup (X) (p11.22p11.23) · Trizomi Xp11.22p11.23 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300801 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD51 | NTBT | index | validated |
| MONDO | 0010428 | E | validated | |
| UMLS | C4303068 | E | validated | |
| GARD | 12766 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - 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:263775Partial duplication of the short arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IQSEC2 | Role in the phenotype of | Assessed | HGNC:29059 | ENSG00000124313 | 300522 | Xp11.22 | IQ motif and Sec7 domain ArfGEF 2 | 26059843[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 19716111[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19716111[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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0012557 | EEG with centrotemporal focal spike waves | |
| HP:0001609 | Hoarse voice | |
| HP:0001611 | Hypernasal speech | |
| HP:0001513 | Obesity | |
| HP:0001761 | Pes cavus | |
| HP:0001763 | Pes planus | |
| HP:0000826 | Precocious puberty | |
| HP:0001250 | Seizure | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19716111[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217377
- This record as JSON: /data/d/217377.json