ORPHA:177910
Prader-Willi syndrome due to imprinting mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Prader-Willi syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prader-Willi syndrome due to imprinting mutation | |
| fr | Syndrome de Prader-Willi dû à une mutation d'empreinte | |
| de | Prader-Willi-Syndrom durch Imprinting-Mutation | |
| es | Síndrome de Prader-Willi por una mutación de impronta | |
| it | Sindrome di Prader-Willi da mutazione del centro di imprinting | |
| nl | Syndroom van Prader-Willi door imprintingsmutatie | |
| pt | Síndrome de Prader-Willi por alteração do imprinting | |
| pl | Zespół Pradera i Willego spowodowany mutacją imprintingu | |
| cs | Praderův-Williho syndrom způsobený poruchou imprintingu | Prader-Williho syndrom způsobený poruchou imprintingu |
| uk | Синдром Прадера-Віллі внаслідок мутації імпринтингу | |
| zh | 印记突变所致Prader-Willi综合征 | |
| tr | Genomik damgalama (imprinting) mutasyonuna bağlı Prader-Willi sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176270 | NTBT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD90.3 | NTBT | attributed | validated |
| MONDO | 0015786 | E | validated | |
| UMLS | C5680510 | 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:739Prader-Willi syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAGEL2 | Role in the phenotype of | Assessed | HGNC:6814 | ENSG00000254585 | 605283 | 15q11.2 | MAGE family member L2 | 20301505[PMID] |
| NDN | Role in the phenotype of | Assessed | HGNC:7675 | ENSG00000182636 | 602117 | 15q11.2 | necdin, MAGE family member | 24039599[PMID] |
| SNORD115@ | Role in the phenotype of | Assessed | HGNC:32780 | 609837 | 15q11.2 | small nucleolar RNA, C/D box 115 cluster | 22495932[PMID]_20301505[PMID]_28296064[PMID] | |
| SNORD116@ | Role in the phenotype of | Assessed | HGNC:32781 | 605436 | 15q11.2 | small nucleolar RNA, C/D box 116 cluster | 22495932[PMID] | |
| SNRPN | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 9634532[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
18 annotations · validated 2020-11-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000708 | Atypical behavior | |
| HP:0001558 | Decreased fetal movement | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| Occasional (29-5%) | ||
| HP:0004039 | Abnormality of ulnar metaphysis | |
| HP:0004283 | Narrow palm | |
| Very rare (<4-1%) | ||
| HP:0003241 | External genital hypoplasia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0007730 | Iris hypopigmentation | |
Annotation source: 17095305[PMID]_9028458[PMID]_17095305[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177910
- This record as JSON: /data/d/177910.json