Protein-energy malnutrition
diseaseOn this page
Also known as Protein energy malnutrition
Summary
Protein-energy malnutrition (MONDO:0001371) is a disease with 2 GWAS associations across 8 studies and 19 clinical trials. A subtype of nutritional deficiency disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 2
- Clinical trials: 19
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | protein-energy malnutrition |
| Mondo ID | MONDO:0001371 |
| EFO | EFO:0009563 |
| MeSH | D011502 |
| DOID | DOID:11801 |
| NCIT | C34952 |
| SNOMED CT | 238107002 |
| UMLS | C0033677 |
| MedGen | 19521 |
| Is cancer (heuristic) | no |
Also known as: Protein energy malnutrition
Data availability: 2 GWAS associations (8 studies).
Disease family
This is a subtype of nutritional deficiency disease. 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 etiologic mechanism › nutritional disorder › nutritional deficiency disease › protein-energy malnutrition
Related subtypes (13): Keshan disease, acquired night blindness, iron deficiency anemia, folic acid deficiency anemia, ariboflavinosis, choline deficiency disease, endemic goiter, magnesium deficiency, potassium deficiency, pernicious anemia, Wernicke-Korsakoff syndrome, pellagra, vitamin deficiency disorder
Subtypes (2): kwashiorkor, marasmus
Genetics & variants
GWAS landscape
2 GWAS associations across 8 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs113993960 | 4e-14 | CFTR | ? | 1.99 |
| rs117720873 | 3e-07 | ARRB1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477356 | Verma A | 2024 | 13,964 | 422,281 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477355 | Verma A | 2024 | 5,150 | 111,958 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480882 | Verma A | 2024 | 5,150 | 111,958 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477354 | Verma A | 2024 | 1,202 | 57,241 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435738 | Zhou W | 2018 | 1,057 | 406,492 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90473196 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 635 | 457,805 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90652066 | Liu TY | 2025 | 390 | 228,977 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90837498 | Koyama S | 2025 | 0 | 0 | Genetics and context for precision health in Greater Boston. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| inframe_insertion | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs113993960 | 7 | 117559591 | ATCT>A,ATCTTCT | 0.05 | inframe_insertion | CFTR | 4e-14 | Tier 1: coding |
| rs117720873 | 11 | 75318751 | A>T | 0.05 | intron_variant | ARRB1 | 3e-07 | Tier 4: intronic/intergenic |
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: 19.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 16 |
| PHASE3 | 2 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01981083 | PHASE4 | UNKNOWN | Egg Albumin-Based Protein Supplement Versus Renal-specific Supplement in Hemodialysis Patients |
| NCT00561093 | PHASE3 | COMPLETED | Anit-Inflammatory and Anti-Oxidative Nutrition in Dialysis Patients |
| NCT03664141 | PHASE3 | WITHDRAWN | Impact of Cannabis Oil on Nutrition in Hemodialysis Patients Study (ICON-HP Study) |
| NCT06576479 | Not specified | RECRUITING | Effect of a Specialized Oral Supplement on Nutritional Status and Quality of Life in Non-dialysis CKD |
| NCT06961825 | Not specified | NOT_YET_RECRUITING | Brief Title: The Role of Nutrition in the Rehabilitation of Patients With Eating Disorders After a Vascular Stroke. |
| NCT00069134 | Not specified | COMPLETED | Study of Antioxidants and Oxidants in Malnourished Children |
| NCT00135590 | Not specified | COMPLETED | Evaluation of the Effectiveness of a Protein Pulse-Feeding Pattern in Elderly Patients |
| NCT01259999 | Not specified | COMPLETED | Energy Dense Formula to People Living in Old Peoples Home |
| NCT02931812 | Not specified | UNKNOWN | Feeding Behavior and Taste Sensitivity Before and After Liver or Renal Transplantation |
| NCT02959125 | Not specified | UNKNOWN | NutFish and Nutrient Supplementation in Pregnancy Class to Improve Maternal and Birth Outcomes |
| NCT03712306 | Not specified | COMPLETED | The (Cost)Effectiveness of Increasing Protein Intake on Physical Funtioning in Older Adults |
| NCT03901742 | Not specified | UNKNOWN | Usefulness of Protein-enriched Infant Formula in Pediatric Intensive Care. |
| NCT04628117 | Not specified | UNKNOWN | Effect of Oral Nutritional Supplementation on Oxidative Stress in Protein-energy Wasting Patients With Peritoneal Dialysis |
| NCT05512975 | Not specified | COMPLETED | FortiPhy: Protein Bioavailability, Satiety and Appetite |
| NCT06058247 | Not specified | COMPLETED | Reducing In-Hospital and 60-Day Mortality in ICU Patients After Surgery With Strict Nutritional Supplementation |
| NCT06154161 | Not specified | COMPLETED | Examining the Impact of High-protein Oral Supplement on Protein Status of Adults on Peritoneal Dialysis |
| NCT06399250 | Not specified | UNKNOWN | Three Channel Food Concept: the Effect Meal Service on Food Intake During Hospitalization |
| NCT06734845 | Not specified | COMPLETED | Energy Status and Protein Intake As Prognostic Indicators of Rehabilitative Outcomes |
| NCT07504133 | Not specified | COMPLETED | Composite Flour Cookies for Improving Nutrition in Malnourished Children |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.