ORPHA:447980
19p13.3 microduplication syndrome
Synonyms: Dup(19)(p13.3)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 19p13.3 microduplication syndrome | Dup(19)(p13.3) |
| fr | Syndrome de microduplication 19p13.3 | = en |
| de | Mikroduplikationssyndrom 19p13.3 | Dup(19)(p13.13) |
| es | Síndrome de microduplicación 19p13.3 | Dup(19)(p13.13) |
| it | Sindrome da microduplicazione 19p13.3 | Dup(19)(p13.13) |
| nl | 19p13.3-microduplicatiesyndroom | = en |
| pt | Síndrome de microduplicação 19p13.3 | = en |
| pl | Zespół mikroduplikacji 19p13.3 | Dup(19)(p13.13) |
| cs | Mikroduplikační syndrom 19p13.3 | Dup(19)(p13.13) |
| uk | Синдром мікродуплікації 19p13.3 | = en |
| zh | 19p13.3微重复综合征 | (19)(p13.13)重复 |
| tr | 19p13.3 mikroduplikasyon sendromu | Dup(19)(p13.13) |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0018658 | E | validated | |
| UMLS | C5679996 | 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 (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:447985Partial duplication of the short arm of chromosome 19 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFIX | Role in the phenotype of | Assessed | HGNC:7788 | ENSG00000008441 | 164005 | 19p13.13 | nuclear factor I X | 29184170[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 25858326[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25858326[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
51 annotations · validated 2019-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000276 | Long face | |
| HP:0100807 | Long fingers | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000545 | Myopia | |
| HP:0000160 | Narrow mouth | |
| HP:0000448 | Prominent nose | |
| HP:0000322 | Short philtrum | |
| HP:0000506 | Telecanthus | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0030084 | Clinodactyly | |
| HP:0002019 | Constipation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002572 | Episodic vomiting | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0030043 | Hip subluxation | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0003186 | Inverted nipples | |
| HP:0000737 | Irritability | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0008551 | Microtia | |
| HP:0000939 | Osteoporosis | |
| HP:0001761 | Pes cavus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000826 | Precocious puberty | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000340 | Sloping forehead | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0012741 | Unilateral cryptorchidism | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 25858326[PMID]_20613546[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447980
- This record as JSON: /data/d/447980.json