ORPHA:411515
Angelman syndrome due to imprinting defect in 15q11-q13
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- 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 imprinting defect in 15q11-q13 | |
| fr | Syndrome d'Angelman dû à un défaut d'empreinte de la région 15q11-q13 | |
| de | Angelman-Syndrom durch Imprinting-Defekt in 15q11-q13 | |
| es | Síndrome de Angelman por un defecto de impronta en 15q11-q13 | |
| it | Sindrome di Angelman da difetto dell'imprinting in regione 15q11-q13 | |
| nl | Syndroom van Angelman door imprintingsdefect in 15q11-q13 | |
| pt | Síndrome Angelman por anomalia do imprinting no locus 15q11-q13 | |
| pl | Zespół Angelmana spowodowany defektem imprintingu 15q11-q13 | |
| cs | Angelmanův syndrom způsobený poruchou imprintingu 15q11-q13 | |
| uk | Синдром Ангельмана, зумовлений дефектом імпринтингу в 15q11-q13 | |
| zh | 15q11-q13印迹缺陷导致的天使综合征 | |
| tr | 15q11-q13'teki imprinting defektine bağlı Angelman sendromu |
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 | 0018462 | E | validated | |
| UMLS | C5681834 | 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 (1):
- ORPHA:72Angelman syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP10A | Role in the phenotype of | Assessed | HGNC:13542 | ENSG00000206190 | 605855 | 15q12 | ATPase phospholipid transporting 10A (putative) | 11326269[PMID]_17347796[PMID] |
| SNRPN | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] |
| UBE3A | Role in the phenotype of | Assessed | HGNC:12496 | ENSG00000114062 | 601623 | 15q11.2 | ubiquitin protein ligase E3A | 17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
27 annotations · validated 2020-11-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0031936 | Delayed ability to walk | |
| HP:0002353 | EEG abnormality | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0040082 | Happy demeanor | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0000748 | Inappropriate laughter | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0002136 | Broad-based gait | |
| HP:0004485 | Cessation of head growth | |
| HP:0002307 | Drooling | |
| HP:0000752 | Hyperactivity | |
| HP:0000710 | Hyperorality | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002465 | Poor speech | |
| HP:0000736 | Short attention span | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0000154 | Wide mouth | |
Annotation source: 20301323[PMID]_26040994[PMID]_28211971[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411515
- This record as JSON: /data/d/411515.json