Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
diseaseOn this page
Also known as Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15UPD(15)mat
Summary
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (MONDO:0020298) is a disease. A subtype of Prader-Willi syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 67
Clinical features
Signs & symptoms
Clinical features (HPO)
67 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (80-99%) |
| HP:0001513 | Obesity | Very frequent (80-99%) |
| HP:0002119 | Ventriculomegaly | Very frequent (80-99%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (80-99%) |
| HP:0000064 | Hypoplastic labia minora | Frequent (30-79%) |
| HP:0000486 | Strabismus | Frequent (30-79%) |
| HP:0000708 | Atypical behavior | Frequent (30-79%) |
| HP:0000709 | Psychosis | Frequent (30-79%) |
| HP:0000717 | Autism | Frequent (30-79%) |
| HP:0000729 | Autistic behavior | Frequent (30-79%) |
| HP:0000786 | Primary amenorrhea | Frequent (30-79%) |
| HP:0000789 | Infertility | Frequent (30-79%) |
| HP:0000823 | Delayed puberty | Frequent (30-79%) |
| HP:0000824 | Decreased response to growth hormone stimulation test | Frequent (30-79%) |
| HP:0001252 | Hypotonia | Frequent (30-79%) |
| HP:0001256 | Intellectual disability, mild | Frequent (30-79%) |
| HP:0001328 | Specific learning disability | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Frequent (30-79%) |
| HP:0001773 | Short foot | Frequent (30-79%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (30-79%) |
| HP:0002591 | Polyphagia | Frequent (30-79%) |
| HP:0002650 | Scoliosis | Frequent (30-79%) |
| HP:0003241 | External genital hypoplasia | Frequent (30-79%) |
| HP:0004322 | Short stature | Frequent (30-79%) |
| HP:0006889 | Intellectual disability, borderline | Frequent (30-79%) |
| HP:0008734 | Decreased testicular size | Frequent (30-79%) |
| HP:0010627 | Anterior pituitary hypoplasia | Frequent (30-79%) |
| HP:0011734 | Central adrenal insufficiency | Frequent (30-79%) |
| HP:0012104 | Parietal cortical atrophy | Frequent (30-79%) |
| HP:0012105 | Occipital cortical atrophy | Frequent (30-79%) |
| HP:0012650 | Perisylvian polymicrogyria | Frequent (30-79%) |
| HP:0025160 | Abnormal temper tantrums | Frequent (30-79%) |
| HP:0030339 | Decreased circulating gonadotropin level | Frequent (30-79%) |
| HP:0031169 | Postterm pregnancy | Frequent (30-79%) |
| HP:0200055 | Small hand | Frequent (30-79%) |
| HP:0000044 | Hypogonadotropic hypogonadism | Frequent (30-79%) |
| HP:0000046 | Small scrotum | Frequent (30-79%) |
| HP:0000060 | Clitoral hypoplasia | Frequent (30-79%) |
| HP:0000819 | Diabetes mellitus | Occasional (5-29%) |
| HP:0000938 | Osteopenia | Occasional (5-29%) |
| HP:0000939 | Osteoporosis | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001263 | Global developmental delay | Occasional (5-29%) |
| HP:0001385 | Hip dysplasia | Occasional (5-29%) |
| HP:0001518 | Small for gestational age | Occasional (5-29%) |
| HP:0001558 | Decreased fetal movement | Occasional (5-29%) |
| HP:0002360 | Sleep abnormality | Occasional (5-29%) |
| HP:0002578 | Gastroparesis | Occasional (5-29%) |
| HP:0002714 | Downturned corners of mouth | Occasional (5-29%) |
| HP:0002870 | Obstructive sleep apnea | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 |
| Mondo ID | MONDO:0020298 |
| Orphanet | 98754 |
| UMLS | C5680343 |
| MedGen | 1826079 |
| GARD | 0016861 |
| Is cancer (heuristic) | no |
Also known as: Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15 · UPD(15)mat
Disease family
This is a subtype of Prader-Willi syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › syndromic disease › Prader-Willi syndrome › Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Related subtypes (4): Schaaf-Yang syndrome, Prader-Willi syndrome due to translocation, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal 15q11q13 deletion
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.