ORPHA:177907
Prader-Willi syndrome due to translocation
- 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 translocation | |
| fr | Syndrome de Prader-Willi dû à une translocation | |
| de | Prader-Willi-Syndrom durch Translokation | |
| es | Síndrome de Prader-Willi por traslocación | |
| it | Sindrome di Prader-Willi da traslocazione | |
| nl | Prader-Willisyndroom door translocatie | |
| pt | Síndrome de Prader-Willi por translocação | |
| pl | Zespół Pradera i Willego spowodowany translokacją | |
| cs | Praderův-Williho syndrom na podkladě translokace | Prader-Williho syndrom na podkladě translokace |
| uk | Синдром Прадера-Віллі внаслідок транслокації | |
| zh | 染色体易位所致Prader-Willi综合征 | |
| tr | Translokasyona 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 | 0015785 | E | validated | |
| UMLS | C5680509 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SNRPN | Role in the phenotype of | Assessed | HGNC:11164 | ENSG00000128739 | 182279 | 15q11.2 | small nuclear ribonucleoprotein polypeptide N | 11159938[PMID]_12154412[PMID]_8845846[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
93 annotations · validated 2020-11-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001513 | Obesity | |
| HP:0002033 | Poor suck | |
| HP:0001612 | Weak cry | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000341 | Narrow forehead | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0012433 | Abnormal social behavior | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001344 | Absent speech | |
| HP:0009085 | Alveolar ridge overgrowth | |
| HP:0000463 | Anteverted nares | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000193 | Bifid uvula | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0001156 | Brachydactyly | |
| HP:0000455 | Broad nasal tip | |
| HP:0000670 | Carious teeth | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000175 | Cleft palate | |
| HP:0030084 | Clinodactyly | |
| HP:0040025 | Clinodactyly of the 4th finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0005469 | Flat occiput | |
| HP:0001263 | Global developmental delay | |
| HP:0040082 | Happy demeanor | |
| HP:0012168 | Head-banging | |
| HP:0000218 | High palate | |
| HP:0000540 | Hypermetropia | |
| HP:0001611 | Hypernasal speech | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001265 | Hyporeflexia | |
| HP:0000601 | Hypotelorism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000252 | Microcephaly | |
| HP:0006347 | Microdontia of primary teeth | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0001562 | Oligohydramnios | |
| HP:0001845 | Overlapping toe | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001763 | Pes planus | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000448 | Prominent nose | |
| HP:0000520 | Proptosis | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0012166 | Skin-picking | |
| HP:0012775 | Stellate iris | |
| HP:0000486 | Strabismus | |
| HP:0200096 | Triangular-shaped open mouth | |
| HP:0010801 | Underdeveloped nasolabial fold | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000154 | Wide mouth | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31394532[PMID]_31816617[PMID]_31394532[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177907
- This record as JSON: /data/d/177907.json