Maternal uniparental disomy of chromosome 21
diseaseOn this page
Also known as maternal uniparental disomy of chromosome type 21UPD(21)mat
Summary
Maternal uniparental disomy of chromosome 21 (MONDO:0019918) is a disease. A subtype of uniparental disomy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 12
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:6000197 | Reduced muscle phosphoglycerate mutase activity | Very frequent (80-99%) |
| HP:0002913 | Myoglobinuria | Frequent (30-79%) |
| HP:0003236 | Elevated circulating creatine kinase concentration | Frequent (30-79%) |
| HP:0003326 | Myalgia | Frequent (30-79%) |
| HP:0003546 | Exercise intolerance | Frequent (30-79%) |
| HP:0003710 | Exercise-induced muscle cramps | Frequent (30-79%) |
| HP:0100301 | Muscle fiber tubular inclusions | Frequent (30-79%) |
| HP:0001324 | Muscle weakness | Occasional (5-29%) |
| HP:0001919 | Acute kidney injury | Occasional (5-29%) |
| HP:0008942 | Acute rhabdomyolysis | Occasional (5-29%) |
| HP:0003457 | EMG abnormality | Excluded (0%) |
| HP:0040129 | Abnormal nerve conduction velocity | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maternal uniparental disomy of chromosome 21 |
| Mondo ID | MONDO:0019918 |
| Orphanet | 96187 |
| ICD-11 | 553200266 |
| UMLS | C5190523 |
| MedGen | 1673526 |
| GARD | 0019337 |
| Is cancer (heuristic) | no |
Also known as: maternal uniparental disomy of chromosome type 21 · UPD(21)mat
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › uniparental disomy › maternal uniparental disomy of chromosome 21
Related subtypes (26): paternal uniparental disomy of chromosome 14, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, paternal uniparental disomy of chromosome 1, maternal uniparental disomy of chromosome 1, maternal uniparental disomy of chromosome X, paternal uniparental disomy of chromosome X, mosaic genome-wide paternal uniparental disomy, maternal uniparental disomy of chromosome 2, maternal uniparental disomy of chromosome 4, maternal uniparental disomy of chromosome 6, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, maternal uniparental disomy of chromosome 9, maternal uniparental disomy of chromosome 14, maternal uniparental disomy of chromosome 16, maternal uniparental disomy of chromosome 20, maternal uniparental disomy of chromosome 22, paternal uniparental disomy of chromosome 5, paternal uniparental disomy of chromosome 6, paternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, paternal uniparental disomy of chromosome 20, paternal uniparental disomy of chromosome 21, maternal uniparental disomy of chromosome 13, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Angelman syndrome due to paternal uniparental disomy of chromosome 15, paternal uniparental disomy of chromosome 13
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.