ORPHA:98794
Angelman syndrome due to maternal 15q11q13 deletion
Synonyms: Angelman syndrome due to maternal monosomy 15q11q13
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Age of onset
- Infancy
- Status
- active
This disease is described under Angelman syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Angelman syndrome due to maternal 15q11q13 deletion | Angelman syndrome due to maternal monosomy 15q11q13 |
| fr | Syndrome d'Angelman dû à une délétion 15q11q13 d'origine maternelle | Syndrome d'Angelman dû à une monosomie 15q11-13 d'origine maternelle |
| de | Angelman-Syndrom durch maternale Deletion 15q11q13 | Angelman-Syndrom durch maternale Monosomie 15q11q13 |
| es | Síndrome de Angelman por deleción materna 15q11q13 | Síndrome de Angelman por monosomía materna 15q11q13 |
| it | Sindrome di Angelman da delezione materna di 15q11q13 | Sindrome di Angelman da monosomia materna di 15q11q13 |
| nl | Syndroom van Angelman door maternale 15q11q13-deletie | Syndroom van Angelman door maternale monosomie 15q11q13 |
| pt | Deleção 15q11.13 materna | |
| pl | Zespół Angelmana z powodu matczynej delecji 15q11q13 | = en |
| cs | Angelmanův syndrom způsobený maternální delecí 15q11q13 | Angelmanův syndrom způsobený maternální monozomií 15q11q13 |
| uk | Синдром Ангельмана внаслідок материнської делеції 15q11q13 | Синдром Ангельмана внаслідок материнської моносомії 15q11q13 |
| zh | 母源15q11q13缺失型天使综合征 | 母源性15q11q13单体所致天使综合征 |
| tr | Maternal 15q11q13 delesyonuna bağlı Angelman sendromu | Maternal monozomiye bağlı Angelman sendromu 15q11q13 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD90.0 | NTBT | attributed | validated |
| MONDO | 0020302 | E | validated | |
| UMLS | C5566334 | 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 (2):
- ORPHA:72Angelman syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:262119Partial deletion of the long arm of chromosome 15 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 |
|---|---|---|---|---|---|---|---|---|
| OCA2 | Role in the phenotype of | Assessed | HGNC:8101 | ENSG00000104044 | 611409 | 15q12-q13.1 | OCA2 melanosomal transmembrane protein | 10905897[PMID]_20301323[PMID] |
| UBE3A | Role in the phenotype of | Assessed | HGNC:12496 | ENSG00000114062 | 601623 | 15q11.2 | ubiquitin protein ligase E3A | 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
50 annotations · validated 2020-11-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004485 | Cessation of head growth | |
| HP:0002353 | EEG abnormality | |
| HP:0011203 | EEG with abnormally slow frequencies | |
| HP:0001263 | Global developmental delay | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000729 | Autistic behavior | |
| HP:0002019 | Constipation | |
| HP:0012448 | Delayed myelination | |
| HP:0002307 | Drooling | |
| HP:0011968 | Feeding difficulties | |
| HP:0005469 | Flat occiput | |
| HP:0008947 | Floppy infant | |
| HP:0004302 | Functional motor deficit | |
| HP:0040082 | Happy demeanor | |
| HP:0000752 | Hyperactivity | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000748 | Inappropriate laughter | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001513 | Obesity | |
| HP:0002033 | Poor suck | |
| HP:0010808 | Protruding tongue | |
| HP:0002650 | Scoliosis | |
| HP:0000736 | Short attention span | |
| HP:0000486 | Strabismus | |
| HP:0100703 | Tongue thrusting | |
| HP:0000154 | Wide mouth | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0002136 | Broad-based gait | |
| HP:0002015 | Dysphagia | |
| HP:0002141 | Gait imbalance | |
| HP:0002046 | Heat intolerance | |
| HP:0010505 | Limitation of movement at ankles | |
| HP:0000303 | Mandibular prognathia | |
| HP:0040196 | Mild microcephaly | |
| HP:0001336 | Myoclonus | |
| HP:0002465 | Poor speech | |
| HP:0100023 | Recurrent hand flapping | |
| HP:0033063 | Shortened sleep cycle | |
| HP:0001337 | Tremor | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26040994[PMID]_20301323[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98794
- This record as JSON: /data/d/98794.json