ORPHA:739
Prader-Willi syndrome
Synonyms: Prader-Labhart-Willi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prader-Willi syndrome | Prader-Labhart-Willi syndrome |
| fr | Syndrome de Prader-Willi | Syndrome de Prader-Labhart-Willi |
| de | Prader-Willi-Syndrom | Prader-Labhart-Willi-Syndrom · Willi-Prader-Syndrom |
| es | Síndrome de Prader-Willi | Síndrome de Prader-Labhart-Willi · Síndrome de Willi-Prader |
| it | Sindrome di Prader-Willi | Sindrome di Prader-Labhart-Willi · Sindrome di Willi-Prader |
| nl | Syndroom van Prader-Willi | Syndroom van Prader-Labhart-Willi |
| pt | Síndrome Prader-Willi | Síndrome Willi-Prader |
| pl | Zespół Pradera i Williego | Zespół Pradera, Labharta i Williego · Zespół Williego i Pradera |
| cs | Praderův-Williho syndrom | Praderův-Labhartův-Williho syndrom · Williho-Praderův syndrom · Prader-Williho syndrom · Prader-Labhart-Williho syndrom · Willi-Praderův syndrom |
| uk | Синдром Прадера-Віллі | Синдром Прадера-Лабхарта-Віллі |
| zh | Prader-Willi综合征 | Prader-Labhart-Willi综合征 |
| tr | Prader-Willi sendromu | Prader-Labhart-Willi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176270 | E | validated | |
| OMIM | 615547 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD90.3 | E | specific | validated |
| MONDO | 0008300 | E | validated | |
| MeSH | D011218 | E | validated | |
| UMLS | C0032897 | E | validated | |
| GARD | 5575 | E | validated | |
| MedDRA | 10036476 | 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 (7):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:399846Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
rare genetic diseases; rare infertility disorders - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
4
Genes
0 direct · 10 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MAGEL2 | ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | Role in the phenotype of | Assessed | HGNC:6814 | ENSG00000254585 | 605283 | 15q11.2 | MAGE family member L2 | 20301505[PMID] |
| MAGEL2 | ORPHA:177910Prader-Willi syndrome due to imprinting mutation | Role in the phenotype of | Assessed | HGNC:6814 | ENSG00000254585 | 605283 | 15q11.2 | MAGE family member L2 | 20301505[PMID] |
| NDN | ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | Role in the phenotype of | Assessed | HGNC:7675 | ENSG00000182636 | 602117 | 15q11.2 | necdin, MAGE family member | 20301505[PMID] |
| NDN | ORPHA:177910Prader-Willi syndrome due to imprinting mutation | Role in the phenotype of | Assessed | HGNC:7675 | ENSG00000182636 | 602117 | 15q11.2 | necdin, MAGE family member | 24039599[PMID] |
| OCA2 | ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | Role in the phenotype of | Assessed | HGNC:8101 | ENSG00000104044 | 611409 | 15q12-q13.1 | OCA2 melanosomal transmembrane protein | 20301505[PMID] |
| SNORD115@ | ORPHA:177910Prader-Willi syndrome due to imprinting mutation | 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@ | ORPHA:177910Prader-Willi syndrome due to imprinting mutation | Role in the phenotype of | Assessed | HGNC:32781 | 605436 | 15q11.2 | small nucleolar RNA, C/D box 116 cluster | 22495932[PMID] | |
| SNRPN | ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 20301505[PMID] |
| SNRPN | ORPHA:177907Prader-Willi syndrome due to translocation | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 11159938[PMID]_12154412[PMID]_8845846[PMID] |
| SNRPN | ORPHA:177910Prader-Willi syndrome due to imprinting mutation | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 9634532[PMID] |
5
Prevalence and incidence
16 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.1 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.7 / 100 000 | Belgium | Value and class | Validated | 14679397[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Belgium | Value and class | Validated | 14679397[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.4 / 100 000 | United Kingdom | Value and class | Validated | 11732491[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.9 / 100 000 | United Kingdom | Value and class | Validated | 11732491[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.6 / 100 000 | Japan | Value and class | Validated | 8579217[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only | Validated | 8579217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Australia | Value and class | Validated | 12598399[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only | Validated | 12598399[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.2 / 100 000 | United States | Value and class | Validated | 2240051[PMID] |
| Point prevalence | 1-9 / 100 000 | — | United States | Class only | Validated | 2240051[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.76 / 100 000 | France | Value and class | Validated | 28659150[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.229 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
90 annotations · validated 2024-08-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000739 | Anxiety | |
| HP:0000028 | Cryptorchidism | |
| HP:0002015 | Dysphagia | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0000789 | Infertility | |
| HP:0001270 | Motor delay | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0010536 | Central sleep apnea | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0030339 | Decreased circulating gonadotropin level | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0000969 | Edema | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001055 | Erysipelas | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0002578 | Gastroparesis | |
| HP:0000540 | Hypermetropia | |
| HP:0000135 | Hypogonadism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0001265 | Hyporeflexia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000545 | Myopia | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000704 | Periodontitis | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0002591 | Polyphagia | |
| HP:0002033 | Poor suck | |
| HP:0000786 | Primary amenorrhea | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0034323 | Reduced circulating growth hormone concentration | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0012506 | Small pituitary gland | |
| HP:0000046 | Small scrotum | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0000729 | Autistic behavior | |
| HP:0011787 | Central hypothyroidism | |
| HP:0031100 | Decreased inhibin B level | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001385 | Hip dysplasia | |
| HP:0000822 | Hypertension | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0012412 | Premature adrenarche | |
| HP:0012411 | Premature pubarche | |
| HP:0000709 | Psychosis | |
| HP:0001250 | Seizure | |
| HP:0012166 | Skin-picking | |
| HP:0001297 | Stroke | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0002013 | Vomiting | |
| HP:0000217 | Xerostomia | |
| Very rare (<4-1%) | ||
| HP:0011734 | Central adrenal insufficiency | |
| HP:0000826 | Precocious puberty | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 22585395[PMID]_20301505[PMID]_30365815[PMID]_29685165[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/739
- This record as JSON: /data/d/739.json