Prader-willi syndrome

Preferred Label : Prader-willi syndrome;

Symbol : PWS;

CISMeF acronym : PWCR; PWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Prader-labhart-willi syndrome;

Included titles and symbols : Prader-willi syndrome chromosome region; Prader-willi-like syndrome associated with chromosome 6; PWCR;

Description : Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features.;

Inheritance : Autosomal dominant (loss of paternal allele);

Molecular basis : Contiguous gene syndrome caused by deletion of the paternal allele of the imprinted region at 15q11.2;

Laboratory abnormalities : Microdeletion of 15q11 in 70% of patients confirmed by fluorescent in situ hybridization;

Prefixed ID : #176270;

Details

Origin ID

176270;

UMLS CUI

C0032897;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- NDN wt Allele [NCIt concept]
- Necdin [NCIt concept]
- PWS gene [LOINC component]
- Partial Wave Spectroscopic Microscopy [NCIt concept]
- Port-wine stain of skin (disorder) [SNOMED CT concept]
- Prader-Willi-Like syndrome associated with chromosome 6 [MeSH concept]
- Prader-Willi-Like syndrome associated with chromosome 6 [MeSH Supplementary Concept]
- necdin, MAGE family member [ORDO Gene]
- necdin, MAGE family member [HGNC gene]
Currated CISMeF NLP mapping
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Prader Willi syndrome [Disease (Nov.)]
- Prader-Labhart-Willi syndrome [PASCAL descriptor]
- Prader-Willi Syndrome [NCIt concept]
- Prader-Willi syndrome [DO Concept]
- Prader-Willi syndrome [ICD-11 Subcategory]
- Prader-Willi syndrome [ICD-9 code]
- Prader-Willi syndrome [MedDRA Preferred Term]
- Prader-Willi syndrome [MeSH concept]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome (disorder) [SNOMED CT concept]
- prader-willi syndrome [MedlinePlus Topic]
- prader-willi syndrome [MeSH Descriptor]
- prader-willi syndrome [SNOMED Notion]
DO Cross reference
- Prader-Willi syndrome [DO Concept]
HPO term(s)
- Abdominal obesity [HPO term]
- Acromicria [HPO term]
- Adrenal insufficiency [HPO term]
- Almond-shaped palpebral fissure [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bitemporal narrowing [HPO term]
- Carious teeth [HPO term]
- Clinodactyly [HPO term]
- Clitoral hypoplasia [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased fetal movement [HPO term]
- Decreased muscle mass [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Downturned corners of mouth [HPO term]
- Esotropia [HPO term]
- External genital hypoplasia [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal upsweep of hair [HPO term]
- Generalized hypopigmentation [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Hip dysplasia [HPO term]
- Hyperinsulinemia [HPO term]
- Hypermetropia [HPO term]
- Hypernasal speech [HPO term]
- Hyperphagia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypoplastic labia minora [HPO term]
- Hypoventilation [HPO term]
- Impaired pain sensation [HPO term]
- Infertility [HPO term]
- Iris hypopigmentation [HPO term]
- Isolated cases [HPO term]
- Kyphosis [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Narrow nasal bridge [HPO term]
- Narrow palm [HPO term]
- Nasal speech [HPO term]
- Neonatal hypotonia [HPO term]
- Obesity [HPO term]
- Oligomenorrhea [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Polyphagia [HPO term]
- Poor fine motor coordination [HPO term]
- Poor gross motor coordination [HPO term]
- Poor suck [HPO term]
- Precocious puberty [HPO term]
- Primary amenorrhea [HPO term]
- Psychosis [HPO term]
- Radial deviation of finger [HPO term]
- Recurrent respiratory infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Sleep apnea [HPO term]
- Sleep disturbance [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Small scrotum [HPO term]
- Specific learning disability [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Temperature instability [HPO term]
- Thin upper lip vermilion [HPO term]
- Type II diabetes mellitus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome due to imprinting mutation [ORDO Disease]
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 [ORDO Disease]
- Prader-Willi syndrome due to translocation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prader Willi syndrome [Disease (Nov.)]
- Prader-Willi Syndrome [NCIt concept]
- Prader-Willi syndrome [MedDRA Preferred Term]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome [MeSH concept]
- Prader-Willi syndrome [DO Concept]
- Prader-Willi syndrome [ICD-9 code]
- Prader-Willi syndrome (disorder) [SNOMED CT concept]
- prader-willi syndrome [MedlinePlus Topic]
- prader-willi syndrome [SNOMED Notion]
- prader-willi syndrome [MeSH Descriptor]

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