ORPHA:177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- 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 paternal deletion of 15q11q13 type 2 | |
| fr | Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle de type 2 | Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle de type 2 |
| de | Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 | |
| es | Síndrome de Prader-Willi por deleción paterna 15q11q13 tipo 2 | |
| it | Sindrome di Prader-Willi da delezione paterna di 15q11q13, tipo 2 | |
| nl | Prader-Willisyndroom door paternale deletie van 15q11q13 type 2 | |
| pt | Síndrome de Prader-Willi por deleção paterna de 15q11.13, tipo 2 | |
| pl | Zespół Pradera i Willego spowodowany ojcowską delecją 15q11q13 typu 2 | |
| cs | Praderův-Williho syndrom na podkladě paternální delece 15q11q13, typ 2 | Prader-Williho syndrom na podkladě paternální delece 15q11q13, typ 2 |
| uk | Синдром Прадера-Віллі, зумовлений батьковою делецією 15q11q13, тип 2 | |
| zh | 父源性15q11q13片段缺失所致Prader-Willi综合征2型 | |
| tr | 15q11q13 tip 2'nin paternal delesyonuna bağlı Prader-Willi sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615547 | NTBT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD90.3 | NTBT | attributed | validated |
| MONDO | 0015784 | E | validated | |
| UMLS | C5680508 | 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:98793Prader-Willi syndrome due to paternal 15q11q13 deletion
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
6 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 | 20301505[PMID] |
| OCA2 | Role in the phenotype of | Assessed | HGNC:8101 | ENSG00000104044 | 611409 | 15q12-q13.1 | OCA2 melanosomal transmembrane protein | 20301505[PMID] |
| SNORD115@ | Role in the phenotype of | Assessed | HGNC:32780 | 609837 | 15q11.2 | small nucleolar RNA, C/D box 115 cluster | 20301505[PMID]_22495932[PMID]_28296064[PMID] | |
| SNORD116@ | Role in the phenotype of | Assessed | HGNC:32781 | 605436 | 15q11.2 | small nucleolar RNA, C/D box 116 cluster | 20301505[PMID]_20588305[PMID]_22694955[PMID] | |
| SNRPN | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 20301505[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
71 annotations · validated 2020-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000504 | Abnormality of vision | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0000708 | Atypical behavior | |
| HP:0000717 | Autism | |
| HP:0000729 | Autistic behavior | |
| HP:0011734 | Central adrenal insufficiency | |
| HP:0011787 | Central hypothyroidism | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0030339 | Decreased circulating gonadotropin level | |
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0000819 | Diabetes mellitus | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0001252 | Hypotonia | |
| HP:0000789 | Infertility | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0012105 | Occipital cortical atrophy | |
| HP:0012104 | Parietal cortical atrophy | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0012412 | Premature adrenarche | |
| HP:0012411 | Premature pubarche | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000709 | Psychosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| HP:0100716 | Self-injurious behavior | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0012166 | Skin-picking | |
| HP:0002360 | Sleep abnormality | |
| HP:0200055 | Small hand | |
| HP:0000046 | Small scrotum | |
| HP:0001328 | Specific learning disability | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0100739 | Bulimia | |
| HP:0002871 | Central apnea | |
| HP:0001558 | Decreased fetal movement | |
| HP:0031100 | Decreased inhibin B level | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002578 | Gastroparesis | |
| HP:0001263 | Global developmental delay | |
| HP:0001385 | Hip dysplasia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0010741 | Pedal edema | |
| HP:0031169 | Postterm pregnancy | |
| HP:0001250 | Seizure | |
| HP:0001518 | Small for gestational age | |
| Very rare (<4-1%) | ||
| HP:0000826 | Precocious puberty | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31920975[PMID]_20301505[PMID]_26062517[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177904
- This record as JSON: /data/d/177904.json