ORPHA:238769
1q44 microdeletion syndrome
Synonyms: Del(1)(q44) · Monosomy 1q44
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1q44 microdeletion syndrome | Del(1)(q44) · Monosomy 1q44 |
| fr | Syndrome de microdélétion 1q44 | Del(1)(q44) · Monosomie 1q44 |
| de | Mikrodeletionssyndrom 1q44 | Del(1)(q44) · Monosomie 1q44 |
| es | Síndrome de microdeleción 1q44 | Del(1)(q44) · Monosomía 1q44 |
| it | Sindrome da microdelezione 1q44 | Del(1)(q44) · Monosomia 1q44 |
| nl | 1q44-microdeletiesyndroom | Del(1)(q44) · Monosomie 1q44 |
| pt | Síndrome de microdeleção 1q44 | |
| pl | Zespół mikrodelecji 1q44 | Del(1)(q44) · Monosomia 1q44 |
| cs | Mikrodeleční syndrom 1q44 | Del(1)(q44) · Monozomie 1q44 |
| uk | Синдром мікроделеції 1q44 | Del(1)(q44) · Моносомія 1q44 |
| zh | 染色体1q44微缺失综合征 | 1q44单体 |
| tr | 1q44 mikrodelesyon sendromu | Del (1) (q44) · Monozomi 1q44 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.10 | NTBT | index | validated |
| MONDO | 0016561 | E | validated | |
| UMLS | C4304540 | E | validated | |
| GARD | 10943 | 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 (1):
- ORPHA:262001Partial deletion of the long arm of chromosome 1 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 |
|---|---|---|---|---|---|---|---|---|
| HNRNPU | Role in the phenotype of | Assessed | HGNC:5048 | ENSG00000153187 | 602869 | 1q44 | heterogeneous nuclear ribonucleoprotein U | 28283832[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 21800092[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
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0000316 | Hypertelorism | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000238 | Hydrocephalus | |
| HP:0002566 | Intestinal malrotation | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0000384 | Preauricular skin tag | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002650 | Scoliosis | |
| HP:0000664 | Synophrys | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 24214579[PMID]_22975012[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238769
- This record as JSON: /data/d/238769.json