ORPHA:398069
Schaaf-Yang syndrome
Synonyms: SYS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare imprinting disorder characterized by muscular hypotonia, joint contractures/arthrogryposis, developmental delay, usually mild to moderate intellectual disability, short stature, hypogonadism, autism spectrum disorder and, less often, hyperphagia and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schaaf-Yang syndrome | SYS |
| fr | Syndrome de Schaaf-Yang | |
| de | Schaaf-Yang-Syndrom | = en |
| es | Síndrome de Schaaf-Yang | = en |
| it | Sindrome di Schaaf-Yang | = en |
| nl | Syndroom van Schaaf-Yang | = en |
| pt | Síndrome Schaaf-Yang | = en |
| pl | Zespół Schaafa-Yanga | = en |
| cs | Praderův-Williho syndrom způsobený bodovou mutací | PWS způsobený bodovou mutací · Prader-Williho syndrom způsobený bodovou mutací |
| uk | Синдром Прадера-Віллі, повязаний з MAGEL2 | PWLS, повязані з MAGEL2 · Синдром Шаафа-Янга |
| zh | MAGEL2相关的普拉德-威利样综合征 | Schaaf-Yang综合征 |
| tr | MAGEL2-ilişkili Prader-Willi benzeri sendrom | MAGEL2-ilişkili PWLS · Schaaf-Yang sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615547 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0014243 | E | validated | |
| MeSH | C000726748 | E | validated | |
| UMLS | C5575066 | E | validated | |
| GARD | 13316 | 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 (2):
- ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:398073Prader-Willi-like 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAGEL2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6814 | ENSG00000254585 | 605283 | 15q11.2 | MAGE family member L2 | 24076603[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 33570896[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27195816[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.
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HPO phenotypes
81 annotations · validated 2020-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000028 | Cryptorchidism | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0008947 | Floppy infant | |
| HP:0000789 | Infertility | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002033 | Poor suck | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000478 | Abnormality of the eye | |
| HP:0008197 | Absence of pubertal development | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0012450 | Chronic constipation | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0100543 | Cognitive impairment | |
| HP:0001558 | Decreased fetal movement | |
| HP:0008734 | Decreased testicular size | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000135 | Hypogonadism | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0012287 | Hypothalamic luteinizing hormone-releasing hormone deficiency | |
| HP:0004324 | Increased body weight | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002808 | Kyphosis | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002591 | Polyphagia | |
| HP:0000786 | Primary amenorrhea | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0012166 | Skin-picking | |
| HP:0010535 | Sleep apnea | |
| HP:0200055 | Small hand | |
| HP:0012506 | Small pituitary gland | |
| HP:0000046 | Small scrotum | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0005968 | Temperature instability | |
| HP:0002119 | Ventriculomegaly | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0001631 | Atrial septal defect | |
| HP:0011787 | Central hypothyroidism | |
| HP:0010536 | Central sleep apnea | |
| HP:0040030 | Chorioretinal hypopigmentation | |
| HP:0000722 | Compulsive behaviors | |
| HP:0025237 | Confusional arousal | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000565 | Esotropia | |
| HP:0001385 | Hip dysplasia | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0100710 | Impulsivity | |
| HP:0001254 | Lethargy | |
| HP:0000054 | Micropenis | |
| HP:0000545 | Myopia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000826 | Precocious puberty | |
| HP:0012411 | Premature pubarche | |
| HP:0000709 | Psychosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0000217 | Xerostomia | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20301505[PMID]_27195816[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398069
- This record as JSON: /data/d/398069.json