Distal deletion 12p syndrome
Synonyms: 12p13.33 microdeletion syndrome · Del(12)(p13.33) · Distal monosomy 12p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 12p syndrome | 12p13.33 microdeletion syndrome · Del(12)(p13.33) · Distal monosomy 12p |
| fr | Syndrome de délétion distale 12p | Del(12)(p13.33) · Monosomie distale 12p · Syndrome de microdélétion 12p13.33 |
| de | Distale Deletion 12p | Del(12)(p13.33) · Deletion 12p, distale · Distale Monosomie 12p · Mikrodeletionssyndrom 12p13.33 |
| es | Síndrome de deleción terminal 12p | Del(12)(p13.33) · Monosomía terminal 12p · Síndrome de microdeleción 12p13.33 |
| it | Sindrome delezione distale 12p | Del(12)(p13.33) · Monosomia distale 12p · Sindrome da microdelezione 12p13.33 |
| nl | Distale deletie 12p-syndroom | 12p13.33-microdeletiesyndroom · Del(12)(p13.33) · Distale monosomie 12p |
| pt | Deleção distal 12p | Del(12)(p13.33) · Monossomia distal 12p · Síndrome de microdeleção 12p13.33 |
| pl | Zespół delecji dystalnej 12p | Del(12)(p13.33) · Delecja dystalna 12p · Zespół mikrodelecji 12p13.33 · Delecja telomerowa 12p |
| cs | Distální monozomie 12p | Syndrom mikrodelece 12p13.33 · Del(12)(p13.33) · Distální delece 12p |
| uk | Дистальна делеція 12p | Синдром мікроделеції 12p13.33 · Del(12)(p13.33) · Дистальна моносомія 12p |
| zh | 12号染色体短臂远端单体 | 12p13.33微缺失综合征 |
| tr | Distal monozomi 12p | Del(12)(p13.33) · Distal delesyon 12p · 12p13.33 mikrodelesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017229 | E | validated | |
| UMLS | C4749581 | 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 (1):
- ORPHA:316244Partial deletion of the short arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERC1 | Role in the phenotype of | Assessed | HGNC:17072 | ENSG00000082805 | 607127 | 12p13.33 | ELKS/RAB6-interacting/CAST family member 1 | 22713806[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 21144913[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280325
- This record as JSON: /data/d/280325.json