ORPHA:228402
2q23.1 microdeletion syndrome
Synonyms: Del(2)(q23.1) · Monosomy 2q23.1 · Pseudo-Angelman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2q23.1 microdeletion syndrome | Del(2)(q23.1) · Monosomy 2q23.1 · Pseudo-Angelman syndrome |
| fr | Syndrome de microdélétion 2q23.1 | Del(2)(q23.1) · Monosomie 2q23.1 · Syndrome pseudo-Angelman |
| de | Mikrodeletionssyndrom 2q23.1 | Del(2)(q23.1) · Monosomie 2q23.1 · Pseudo-Angelman-Syndrom |
| es | Síndrome de microdeleción 2q23.1 | Del(2)(q23.1) · Monosomía 2q23.1 · Síndrome pseudo-Angelman |
| it | Sindrome da microdelezione 2q23.1 | Del(2)(q23.1) · Monosomia 2q23.1 · Sindrome pseudo-Angelman |
| nl | 2q23.1-microdeletiesyndroom | Del(2)(q23.1) · Monosomie 2q23.1 · Pseudo-Angelman-syndroom |
| pt | Síndrome de microdeleção 2q23.1 | |
| pl | Zespół mikrodelecji 2q23.1 | Del(2)(q23.1) · Monosomia 2q23.1 · Rzekomy zespół Angelmana |
| cs | Mikrodeleční syndrom 2q23.1 | Del(2)(q23.1) · Monozomie 2q23.1 · Pseudo-Angelmanův syndrom |
| uk | Синдром мікроделеції 2q23.1 | Del(2)(q23.1) · Моносомія 2q23.1 · Синдром псевдо-Ангельмана |
| zh | 2q23.1微缺失综合征 | 伪Angelman综合征 |
| tr | 2q23.1 mikrodelesyon sendromu | Del (2) (q23.1) · Monozomi 2q23.1 · Psödo-Angelman sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156200 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.20 | NTBT | index | validated |
| MONDO | 0016459 | E | validated | |
| UMLS | C4304532 | E | validated | |
| GARD | 10998 | E | validated |
E 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 (4):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - 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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MBD5 | Role in the phenotype of | Assessed | HGNC:20444 | ENSG00000204406 | 611472 | 2q23.1 | methyl-CpG binding domain protein 5 | 19809484[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 22407754[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.
6
HPO phenotypes
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0002019 | Constipation | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001510 | Growth delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000752 | Hyperactivity | |
| HP:0001252 | Hypotonia | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0000194 | Open mouth | |
| HP:0000749 | Paroxysmal bursts of laughter | |
| HP:0002591 | Polyphagia | |
| HP:0001852 | Sandal gap | |
| HP:0100716 | Self-injurious behavior | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0000664 | Synophrys | |
| HP:0010804 | Tented upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0001385 | Hip dysplasia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001572 | Macrodontia | |
Run the differential on the 4 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228402
- This record as JSON: /data/d/228402.json