ORPHA:684742
2q13 microdeletion syndrome
Synonyms: del2q13 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2q13 microdeletion syndrome | del2q13 syndrome |
| fr | Syndrome de microdélétion 2q13 | Syndrome del2q13 |
| de | Mikrodeletionssyndrom 2q13 | del2q13-Syndrom |
| es | Síndrome de microdeleción 2q13 | Síndrome del2q13 |
| it | Sindrome da microdelezione 2q13 | Sindrome del2q13 |
| nl | 2q13-microdeletiesyndroom | del2q13-syndroom |
| pt | Síndrome de microdeleção 2q13 | Síndrome del2q13 |
| pl | 2q13 microdeletion syndrome | = en |
| cs | Syndrom mikrodelece 2q13 | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.20 | NTBT | attributed | validated |
| MONDO | 975887 | 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 (4):
- 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:262010Partial deletion of the long arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBLN7 | Role in the phenotype of | Assessed | HGNC:26740 | ENSG00000144152 | 611551 | 2q13 | fibulin 7 | 24694933[PMID] |
| TMEM87B | Role in the phenotype of | Assessed | HGNC:25913 | ENSG00000153214 | 617203 | 2q13 | transmembrane protein 87B | 24694933[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/684742
- This record as JSON: /data/d/684742.json