silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
diseaseOn this page
Also known as Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7UPD(7)mat
Summary
silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (MONDO:0019913) is a disease. A subtype of Silver-Russell syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 59
Clinical features
Signs & symptoms
Clinical features (HPO)
59 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000347 | Micrognathia | Very frequent (80-99%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (80-99%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (80-99%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (80-99%) |
| HP:0000233 | Thin vermilion border | Frequent (30-79%) |
| HP:0000325 | Triangular face | Frequent (30-79%) |
| HP:0000356 | Abnormality of the outer ear | Frequent (30-79%) |
| HP:0000750 | Delayed speech and language development | Frequent (30-79%) |
| HP:0001156 | Brachydactyly | Frequent (30-79%) |
| HP:0001159 | Syndactyly | Frequent (30-79%) |
| HP:0001263 | Global developmental delay | Frequent (30-79%) |
| HP:0001270 | Motor delay | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Frequent (30-79%) |
| HP:0001518 | Small for gestational age | Frequent (30-79%) |
| HP:0001999 | Abnormal facial shape | Frequent (30-79%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (30-79%) |
| HP:0002714 | Downturned corners of mouth | Frequent (30-79%) |
| HP:0003162 | Fasting hypoglycemia | Frequent (30-79%) |
| HP:0004482 | Relative macrocephaly | Frequent (30-79%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (30-79%) |
| HP:0011220 | Prominent forehead | Frequent (30-79%) |
| HP:0030084 | Clinodactyly | Frequent (30-79%) |
| HP:0100555 | Asymmetric growth | Frequent (30-79%) |
| HP:0000028 | Cryptorchidism | Occasional (5-29%) |
| HP:0000047 | Hypospadias | Occasional (5-29%) |
| HP:0000119 | Abnormality of the genitourinary system | Occasional (5-29%) |
| HP:0000160 | Narrow mouth | Occasional (5-29%) |
| HP:0000201 | Pierre-Robin sequence | Occasional (5-29%) |
| HP:0000331 | Short chin | Occasional (5-29%) |
| HP:0000678 | Dental crowding | Occasional (5-29%) |
| HP:0000691 | Microdontia | Occasional (5-29%) |
| HP:0000824 | Decreased response to growth hormone stimulation test | Occasional (5-29%) |
| HP:0000826 | Precocious puberty | Occasional (5-29%) |
| HP:0000855 | Insulin resistance | Occasional (5-29%) |
| HP:0000975 | Hyperhidrosis | Occasional (5-29%) |
| HP:0001328 | Specific learning disability | Occasional (5-29%) |
| HP:0001476 | Delayed closure of the anterior fontanelle | Occasional (5-29%) |
| HP:0001620 | Abnormally high-pitched voice | Occasional (5-29%) |
| HP:0001627 | Abnormal heart morphology | Occasional (5-29%) |
| HP:0002007 | Frontal bossing | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002019 | Constipation | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0002705 | High, narrow palate | Occasional (5-29%) |
| HP:0002835 | Aspiration | Occasional (5-29%) |
| HP:0002870 | Obstructive sleep apnea | Occasional (5-29%) |
| HP:0003199 | Decreased muscle mass | Occasional (5-29%) |
| HP:0003944 | Narrow joint spaces of the elbow | Occasional (5-29%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (5-29%) |
| HP:0004396 | Poor appetite | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 |
| Mondo ID | MONDO:0019913 |
| Orphanet | 96182 |
| UMLS | C5680247 |
| MedGen | 1826074 |
| GARD | 0019334 |
| Is cancer (heuristic) | no |
Also known as: Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7 · UPD(7)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 7
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 11, 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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.