Maternal uniparental disomy of chromosome 4
diseaseOn this page
Also known as maternal uniparental disomy of chromosome type 4UPD(4)mat
Summary
Maternal uniparental disomy of chromosome 4 (MONDO:0019911) is a disease. A subtype of chromosome 4 disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 39
Clinical features
Signs & symptoms
Clinical features (HPO)
39 HPO clinical features (Orphanet curated; top 39 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000510 | Rod-cone dystrophy | Frequent (30-79%) |
| HP:0000580 | Pigmentary retinopathy | Frequent (30-79%) |
| HP:0000662 | Nyctalopia | Frequent (30-79%) |
| HP:0000707 | Abnormality of the nervous system | Frequent (30-79%) |
| HP:0000716 | Depression | Frequent (30-79%) |
| HP:0000750 | Delayed speech and language development | Frequent (30-79%) |
| HP:0001123 | Visual field defect | Frequent (30-79%) |
| HP:0001249 | Intellectual disability | Frequent (30-79%) |
| HP:0001251 | Ataxia | Frequent (30-79%) |
| HP:0001310 | Dysmetria | Frequent (30-79%) |
| HP:0001877 | Abnormal erythrocyte morphology | Frequent (30-79%) |
| HP:0001927 | Acanthocytosis | Frequent (30-79%) |
| HP:0002014 | Diarrhea | Frequent (30-79%) |
| HP:0002064 | Spastic gait | Frequent (30-79%) |
| HP:0002495 | Impaired vibratory sensation | Frequent (30-79%) |
| HP:0002600 | Hyporeflexia of lower limbs | Frequent (30-79%) |
| HP:0002630 | Fat malabsorption | Frequent (30-79%) |
| HP:0003146 | Hypocholesterolemia | Frequent (30-79%) |
| HP:0003236 | Elevated circulating creatine kinase concentration | Frequent (30-79%) |
| HP:0003563 | Decreased LDL cholesterol concentration | Frequent (30-79%) |
| HP:0003707 | Calf muscle pseudohypertrophy | Frequent (30-79%) |
| HP:0003722 | Neck flexor weakness | Frequent (30-79%) |
| HP:0004322 | Short stature | Frequent (30-79%) |
| HP:0004325 | Decreased body weight | Frequent (30-79%) |
| HP:0004395 | Malnutrition | Frequent (30-79%) |
| HP:0004905 | Low levels of vitamin A | Frequent (30-79%) |
| HP:0006785 | Limb-girdle muscular dystrophy | Frequent (30-79%) |
| HP:0008181 | Abetalipoproteinemia | Frequent (30-79%) |
| HP:0008897 | Postnatal growth retardation | Frequent (30-79%) |
| HP:0010831 | Impaired proprioception | Frequent (30-79%) |
| HP:0010875 | Chaddock reflex | Frequent (30-79%) |
| HP:0011892 | Low levels of vitamin K | Frequent (30-79%) |
| HP:0011900 | Hypofibrinogenemia | Frequent (30-79%) |
| HP:0100513 | Low levels of vitamin E | Frequent (30-79%) |
| HP:0000011 | Neurogenic bladder | Very rare (<1-4%) |
| HP:0000407 | Sensorineural hearing impairment | Very rare (<1-4%) |
| HP:0000648 | Optic atrophy | Very rare (<1-4%) |
| HP:0000873 | Diabetes insipidus | Very rare (<1-4%) |
| HP:0100651 | Type I diabetes mellitus | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maternal uniparental disomy of chromosome 4 |
| Mondo ID | MONDO:0019911 |
| Orphanet | 96180 |
| ICD-11 | 358848660 |
| SNOMED CT | 766238001 |
| UMLS | C4707719 |
| MedGen | 1644554 |
| GARD | 0019332 |
| Is cancer (heuristic) | no |
Also known as: maternal uniparental disomy of chromosome type 4 · UPD(4)mat
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 4 disorder › maternal uniparental disomy of chromosome 4
Related subtypes (4): ring chromosome 4, partial deletion of chromosome 4, partial duplication of chromosome 4, mosaic trisomy 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.