ORPHA:411511
Angelman syndrome due to a point mutation
- 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 a point mutation | |
| fr | Syndrome d'Angelman dû à une mutation ponctuelle | |
| de | Angelman-Syndrom durch Punktmutation | |
| es | Síndrome de Angelman por una mutación puntual | |
| it | Sindrome di Angelman da mutazione puntiforme | |
| nl | Syndroom van Angelman door puntmutatie | |
| pt | Síndrome Angelman por mutação pontual | |
| pl | Zespół Angelmana spowodowany mutacją punktową | |
| cs | Angelmanův syndrom způsobený bodovými mutacemi | |
| uk | Синдром Ангельмана, зумовлений точковою мутацією | |
| zh | 点突变导致的天使综合征 | |
| tr | Nokta mutasyonuna bağlı Angelman sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105830 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD90.0 | NTBT | attributed | validated |
| MONDO | 0018461 | E | validated | |
| UMLS | C5681146 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBE3A | Disease-causing germline mutation(s) (loss of function) in | 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
34 annotations · validated 2020-11-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004485 | Cessation of head growth | |
| HP:0002353 | EEG abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0040082 | Happy demeanor | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0040196 | Mild microcephaly | |
| HP:0001513 | Obesity | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0000154 | Wide mouth | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0002136 | Broad-based gait | |
| HP:0002307 | Drooling | |
| HP:0002015 | Dysphagia | |
| HP:0011968 | Feeding difficulties | |
| HP:0005469 | Flat occiput | |
| HP:0002141 | Gait imbalance | |
| HP:0001263 | Global developmental delay | |
| HP:0002046 | Heat intolerance | |
| HP:0000748 | Inappropriate laughter | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002033 | Poor suck | |
| HP:0010808 | Protruding tongue | |
| HP:0100023 | Recurrent hand flapping | |
| HP:0000486 | Strabismus | |
| HP:0100703 | Tongue thrusting | |
Annotation source: 12566516[PMID]_20301323[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411511
- This record as JSON: /data/d/411511.json