ORPHA:717812
12q24.31 microdeletion syndrome
Synonyms: Del(12)(q24.31) · Deletion 12q24.31 · Monosomy 12q24.31
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 12q24.31 microdeletion syndrome | Del(12)(q24.31) · Deletion 12q24.31 · Monosomy 12q24.31 |
| fr | Syndrome de microdélétion 12q24.31 | Del(12)(q24.31) · Délétion 12q24.31 · Monosomie 12q24.31 |
| de | Mikrodeletionssyndrom 12q24.31 | Del(12)(q24.31) · Deletion 12q24.31 · Monosomie 12q24.31 |
| es | Síndrome de microdeleción 12q24.31 | Del(12)(q24.31) · Deleción 12q24.31 · Monosomía 12q24.31 |
| it | Sindrome da microdelezione 12q24.31 | Del(12)(q24.31) · Delezione 12q24.31 · Monosomia 12q24.31 |
| nl | 12q24.31-microdeletiesyndroom | Del(12)(q24.31) · Deletie 12q24.31 · Monosomie 12q24.31 |
| pt | 12q24.31 microdeletion syndrome | |
| pl | 12q24.31 microdeletion syndrome | = en |
| cs | 12q24.31 microdeletion syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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:261821Partial deletion of the long arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KDM2B | Role in the phenotype of | Assessed | HGNC:13610 | ENSG00000089094 | 609078 | 12q24.31 | lysine demethylase 2B | 27106595[PMID] |
| SETD1B | Role in the phenotype of | Assessed | HGNC:29187 | ENSG00000139718 | 611055 | 12q24.31 | SET domain containing 1B, histone lysine methyltransferase | 27106595[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/717812
- This record as JSON: /data/d/717812.json