Maternal uniparental disomy of chromosome 14
diseaseOn this page
Also known as maternal uniparental disomy of chromosome type 14UPD(14)mat
Summary
Maternal uniparental disomy of chromosome 14 (MONDO:0019915) is a disease. A subtype of motor developmental delay due to 14q32.2 paternally expressed gene defect — 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): 35
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 64 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
35 HPO clinical features (Orphanet curated; top 35 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000826 | Precocious puberty | Very frequent (80-99%) |
| HP:0001252 | Hypotonia | Very frequent (80-99%) |
| HP:0001270 | Motor delay | Very frequent (80-99%) |
| HP:0001773 | Short foot | Very frequent (80-99%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (80-99%) |
| HP:0200055 | Small hand | Very frequent (80-99%) |
| HP:0000750 | Delayed speech and language development | Frequent (30-79%) |
| HP:0001249 | Intellectual disability | Frequent (30-79%) |
| HP:0001382 | Joint hypermobility | Frequent (30-79%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (30-79%) |
| HP:0001513 | Obesity | Frequent (30-79%) |
| HP:0001518 | Small for gestational age | Frequent (30-79%) |
| HP:0001622 | Premature birth | Frequent (30-79%) |
| HP:0001956 | Truncal obesity | Frequent (30-79%) |
| HP:0004322 | Short stature | Frequent (30-79%) |
| HP:0000028 | Cryptorchidism | Occasional (5-29%) |
| HP:0000160 | Narrow mouth | Occasional (5-29%) |
| HP:0000175 | Cleft palate | Occasional (5-29%) |
| HP:0000193 | Bifid uvula | Occasional (5-29%) |
| HP:0000218 | High palate | Occasional (5-29%) |
| HP:0000293 | Full cheeks | Occasional (5-29%) |
| HP:0000322 | Short philtrum | Occasional (5-29%) |
| HP:0000347 | Micrognathia | Occasional (5-29%) |
| HP:0000403 | Recurrent otitis media | Occasional (5-29%) |
| HP:0000445 | Wide nose | Occasional (5-29%) |
| HP:0000463 | Anteverted nares | Occasional (5-29%) |
| HP:0002021 | Pyloric stenosis | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0003124 | Hypercholesterolemia | Occasional (5-29%) |
| HP:0004904 | Maturity-onset diabetes of the young | Occasional (5-29%) |
| HP:0005280 | Depressed nasal bridge | Occasional (5-29%) |
| HP:0007010 | Poor fine motor coordination | Occasional (5-29%) |
| HP:0011220 | Prominent forehead | Occasional (5-29%) |
| HP:0011968 | Feeding difficulties | Occasional (5-29%) |
| HP:0030084 | Clinodactyly | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maternal uniparental disomy of chromosome 14 |
| Mondo ID | MONDO:0019915 |
| Orphanet | 96184 |
| ICD-11 | 171193570 |
| UMLS | C5680248 |
| MedGen | 1841563 |
| GARD | 0016848 |
| Is cancer (heuristic) | no |
Also known as: maternal uniparental disomy of chromosome type 14 · UPD(14)mat
Disease family
This is a subtype of motor developmental delay due to 14q32.2 paternally expressed gene defect. 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 › motor developmental delay due to 14q32.2 paternally expressed gene defect › maternal uniparental disomy of chromosome 14
Related subtypes (2): paternal 14q32.2 microdeletion syndrome, paternal 14q32.2 hypomethylation syndrome
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.