ORPHA:98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
- 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 15q11q13 deletion | |
| fr | Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle | Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle |
| de | Prader-Willi-Syndrom durch paternale Deletion 15q11.13 | |
| es | Síndrome de Prader-Willi por deleción paterna 15q11q13 | |
| it | Sindrome di Prader-Willi da delezione paterna di 15q11q13 | |
| nl | Prader-Willisyndroom door paternale 15q11q13-deletie | |
| pt | Síndrome de Prader-Willi por deleção 15q11.13 paterna | |
| pl | Zespół Pradera i Willego z powodu ojcowskiej delecji 15q11q13 | |
| cs | Praderův-Williho syndrom způsobený paternální delecí 15q11q13 | Prader-Williho syndrom způsobený paternální delecí 15q11q13 |
| uk | Синдром Прадера-Віллі внаслідок батькової делеції 15q11q13 | |
| zh | 父源15q11q13缺失型普拉德-威利综合征 | |
| tr | Paternal 15q11q13 delesyonuna bağlı Prader-Willi sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD90.3 | NTBT | attributed | validated |
| MONDO | 0020301 | E | validated | |
| UMLS | C5681699 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - 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
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
70 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: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:0100739 | Bulimia | |
| 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:0001263 | Global developmental delay | |
| 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:0002342 | Intellectual disability, moderate | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0012105 | Occipital cortical atrophy | |
| HP:0012104 | Parietal cortical atrophy | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0002591 | Polyphagia | |
| 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:0002871 | Central apnea | |
| HP:0001558 | Decreased fetal movement | |
| HP:0031100 | Decreased inhibin B level | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002578 | Gastroparesis | |
| HP:0001385 | Hip dysplasia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0001256 | Intellectual disability, mild | |
| 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 4 obligate / very frequent terms
Annotation source: 27777904[PMID]_31920975[PMID]_20301505[PMID]_26062517[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98793
- This record as JSON: /data/d/98793.json