ORPHA:293948
1p21.3 microdeletion syndrome
Synonyms: Del(1)(p21.3) · Monosomy 1p21.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- active
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1p21.3 microdeletion syndrome | Del(1)(p21.3) · Monosomy 1p21.3 |
| fr | Syndrome de microdélétion 1p21.3 | Del(1)(p21.3) · Monosomie 1p21.3 |
| de | Mikrodeletionssyndrom 1p21.3 | Del(1)(p21.3) · Monosomie 1p21.3 |
| es | Síndrome de microdeleción 1p21.3 | Del(1)p(21.3) · Monosomía 1p21.3 |
| it | Sindrome da microdelezione 1p21.3 | Del(1)p(21.3) · Monosomia 1p21.3 |
| nl | 1p21.3-microdeletiesyndroom | Del(1)(p21.3) · Monosomie 1p21.3 |
| pt | Síndrome de microdeleção 1p21.3 | Del(1)p(21.3) · Monossomia 1p21.3 |
| pl | zespół mikrodelecji 1p21.3 | Del(1)p(21.3) · Monosomia 1p21.3 |
| cs | Mikrodeleční syndrom 1p21.3 | Del(1)p(21.3) · Monozomie 1p21.3 |
| uk | Синдром мікроделеції 1p21.3 | Del(1)(p21.3) · Моносомія 1p21.3 |
| zh | 1p21.3微缺失综合征 | 1p21.3单体 |
| tr | 1p21.3 mikrodelesyon sendromu | Del(1)(p21.3) · Monozomi 1p21.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.11 | NTBT | index | validated |
| MONDO | 0017405 | E | validated | |
| UMLS | C4304578 | 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:261857Partial deletion of the short arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPYD | Role in the phenotype of | Assessed | HGNC:3012 | ENSG00000188641 | 612779 | 1p21.3 | dihydropyrimidine dehydrogenase | 22003227[PMID]_21114665[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 22003227[PMID]_21114665[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
25 annotations · validated 2016-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0000504 | Abnormality of vision | |
| HP:0000483 | Astigmatism | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0400004 | Long ear | |
| HP:0000545 | Myopia | |
| HP:0001513 | Obesity | |
| HP:0100962 | Shyness | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000293 | Full cheeks | |
| HP:0000256 | Macrocephaly | |
| HP:0003196 | Short nose | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001382 | Joint hypermobility | |
| HP:0000347 | Micrognathia | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000742 | Self-mutilation | |
| HP:0000154 | Wide mouth | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 26279650[PMID]_22003227[PMID]_21114665[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293948
- This record as JSON: /data/d/293948.json