silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
diseaseOn this page
Also known as Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11UPD(11)mat
Summary
silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 (MONDO:0016482) is a disease and 1 clinical trial. A subtype of Silver-Russell syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Europe)
- Phenotypes (HPO): 20
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | Europe | Not yet validated |
Signs & symptoms
Clinical features (HPO)
20 HPO clinical features (Orphanet curated; top 20 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000325 | Triangular face | Frequent (30-79%) |
| HP:0001518 | Small for gestational age | Frequent (30-79%) |
| HP:0002007 | Frontal bossing | Frequent (30-79%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (30-79%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000324 | Facial asymmetry | Occasional (5-29%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (5-29%) |
| HP:0000975 | Hyperhidrosis | Occasional (5-29%) |
| HP:0001263 | Global developmental delay | Occasional (5-29%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (5-29%) |
| HP:0001622 | Premature birth | Occasional (5-29%) |
| HP:0001627 | Abnormal heart morphology | Occasional (5-29%) |
| HP:0001943 | Hypoglycemia | Occasional (5-29%) |
| HP:0002194 | Delayed gross motor development | Occasional (5-29%) |
| HP:0003241 | External genital hypoplasia | Occasional (5-29%) |
| HP:0005484 | Secondary microcephaly | Occasional (5-29%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (5-29%) |
| HP:0030884 | Gastrojejunal tube feeding in infancy | Occasional (5-29%) |
| HP:0100555 | Asymmetric growth | Occasional (5-29%) |
| HP:0100559 | Lower limb asymmetry | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 |
| Mondo ID | MONDO:0016482 |
| Orphanet | 231147 |
| UMLS | C5679841 |
| MedGen | 1843295 |
| GARD | 0020606 |
| Is cancer (heuristic) | no |
Also known as: Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11 · UPD(11)mat
Disease family
This is a subtype of Silver-Russell 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 › Silver-Russell syndrome › silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Related subtypes (10): Russell-silver syndrome, X-linked, Silver-Russell syndrome 3, silver-Russell syndrome due to 7p11.2p13 microduplication, silver-Russell syndrome due to an imprinting defect of 11p15, silver-Russell syndrome due to 11p15 microduplication, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Silver-Russell syndrome 5, Silver-Russell syndrome 1, silver-russell syndrome 2, silver-russell syndrome 4
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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.