Maternal uniparental disomy of chromosome 20
diseaseOn this page
Also known as maternal uniparental disomy of chromosome type 20maternal UPD(20)MBCSUPD(20)mat
Summary
Maternal uniparental disomy of chromosome 20 (MONDO:0019917) is a disease. A subtype of chromosome 20 disorder — 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): 15
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 12 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
15 HPO clinical features (Orphanet curated; top 15 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0008872 | Feeding difficulties in infancy | Very frequent (80-99%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (80-99%) |
| HP:0000325 | Triangular face | Frequent (30-79%) |
| HP:0001252 | Hypotonia | Frequent (30-79%) |
| HP:0001263 | Global developmental delay | Frequent (30-79%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (30-79%) |
| HP:0001518 | Small for gestational age | Frequent (30-79%) |
| HP:0001562 | Oligohydramnios | Frequent (30-79%) |
| HP:0004322 | Short stature | Frequent (30-79%) |
| HP:0004325 | Decreased body weight | Frequent (30-79%) |
| HP:0011220 | Prominent forehead | Frequent (30-79%) |
| HP:0030084 | Clinodactyly | Frequent (30-79%) |
| HP:0034323 | Reduced circulating growth hormone concentration | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Occasional (5-29%) |
| HP:0100555 | Asymmetric growth | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maternal uniparental disomy of chromosome 20 |
| Mondo ID | MONDO:0019917 |
| OMIM | 617352 |
| Orphanet | 96186 |
| DOID | DOID:0111714 |
| ICD-11 | 700797720 |
| SNOMED CT | 715735007 |
| UMLS | C4275029 |
| MedGen | 909388 |
| GARD | 0016849 |
| Is cancer (heuristic) | no |
Also known as: maternal uniparental disomy of chromosome type 20 · maternal UPD(20) · MBCS · UPD(20)mat
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 20 disorder › maternal uniparental disomy of chromosome 20
Related subtypes (5): ring chromosome 20, partial deletion of chromosome 20, partial trisomy of chromosome 20, paternal uniparental disomy of chromosome 20, chromosome 20 trisomy
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.