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Atlas / Disease / Nutritional deficiency disease

Nutritional deficiency disease

disease
On this page

Also known as malnourishedmalnutrition

Summary

Nutritional deficiency disease (MONDO:0006873) is a disease (an umbrella term covering 14 Mondo subtypes) with 14 GWAS associations across 17 studies and 687 clinical trials. Top therapeutic interventions include albendazole, pyrantel, and octreotide. A subtype of nutritional disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Umbrella term: 14 Mondo subtypes
  • GWAS associations: 14
  • Clinical trials: 687

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namenutritional deficiency disease
Mondo IDMONDO:0006873
EFOEFO:1001067
MeSHD003677
DOIDDOID:5113
ICD-10-CME40-E46
NCITC3669
SNOMED CT363246002, 70241007
UMLSC4761312
MedGen1677627
MedDRA10046058
Is cancer (heuristic)no

Also known as: malnourished · malnutrition

Data availability: 14 GWAS associations (17 studies).

Disease family

This is a subtype of nutritional disorder. 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

Related subtypes (6): potassium deficiency disease, overnutrition, eating disorder, hemorrhagic disease of newborn, lactose intolerance, refeeding syndrome

Subtypes (14): Keshan disease, acquired night blindness, iron deficiency anemia, protein-energy malnutrition, folic acid deficiency anemia, ariboflavinosis, choline deficiency disease, endemic goiter, magnesium deficiency, potassium deficiency, pernicious anemia, Wernicke-Korsakoff syndrome, pellagra, vitamin deficiency disorder

Genetics & variants

GWAS landscape

14 GWAS associations across 17 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs5319606713e-12ZNF385BA3.74
rs1892870317e-12PPP2R1BG2.61
rs5565498258e-12VPS50T3.33
rs5435033071e-11WDR27C3.62
rs5622580652e-11SDK1A3.46
rs777439152e-11TRPM3T1.6
rs5674566693e-11ZMAT4G2.43
rs5702417503e-11ANKFN1G3.32
chr1:534262811e-09C3.16
chr11:598559052e-09A0.12
chr3:1082033293e-09C1.86
chr9:165781201e-08TA2.93
chr5:978394972e-08T3.12
chr16:279871734e-08T0.33

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90473198UK Biobank Whole-Genome Sequencing Consortium202512,000446,440Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667948UK Biobank Whole-Genome Sequencing Consortium202512,000446,440Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477367Verma A20242,398444,793Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473206UK Biobank Whole-Genome Sequencing Consortium20251,611456,829Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477369Verma A2024890447,072Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477366Verma A2024823119,693Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479914Verma A2024823119,693Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473199UK Biobank Whole-Genome Sequencing Consortium20257588,855Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477368Verma A2024725119,770Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479915Verma A2024725119,770Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic14

MAF distribution

BucketVariants
common (>=0.05)0
low_freq (0.01-0.05)0
rare (<0.01)8
unknown6

Functional consequences

ConsequenceCount
intron_variant8
unknown6

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs5319606712179533014A>G0.001intron_variantZNF385B3e-12Tier 4: intronic/intergenic
rs18928703111111737185G>A0intron_variantPPP2R1B7e-12Tier 4: intronic/intergenic
rs556549825793246263T>G0.001intron_variantVPS508e-12Tier 4: intronic/intergenic
rs5435033076169684778C>T0intron_variantWDR271e-11Tier 4: intronic/intergenic
rs56225806573990621A>G0intron_variantSDK12e-11Tier 4: intronic/intergenic
rs77743915971071742T>G0.001intron_variantTRPM32e-11Tier 4: intronic/intergenic
rs567456669840842491G>A0.001intron_variantZMAT43e-11Tier 4: intronic/intergenic
rs5702417501756423261G>A,T0intron_variantANKFN13e-11Tier 4: intronic/intergenic
chr1:534262811e-09Tier 4: intronic/intergenic
chr11:598559052e-09Tier 4: intronic/intergenic
chr3:1082033293e-09Tier 4: intronic/intergenic
chr9:165781201e-08Tier 4: intronic/intergenic
chr5:978394972e-08Tier 4: intronic/intergenic
chr16:279871734e-08Tier 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: 687.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified585
PHASE439
PHASE330
PHASE215
PHASE2/PHASE38
PHASE17
EARLY_PHASE12
PHASE1/PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT04094038PHASE4ACTIVE_NOT_RECRUITINGThe Effect of Intradialytic Parenteral Nutrition on Nutritional Status and Quality of Life in Hemodialysis Patients
NCT06049680PHASE4RECRUITINGSafety Study of SMOFlipid to Evaluate the Risk of Developing EFAD and/or PNAC in Pediatric and Adult Patients
NCT06452563PHASE4ACTIVE_NOT_RECRUITINGAmino Acids Supplementation and Exercise Intervention in Hemodialysis Patients
NCT00168935PHASE4COMPLETEDMalnutrition in Gastroenterology Patients
NCT00314834PHASE4TERMINATEDEffect of Intradialytic Parenteral Nutrition on Morbidity and Mortality of Malnourished Hemodialysis Patients
NCT00333099PHASE4COMPLETEDINEC Study: Immuno-modulating Enteral Nutrition in Cancer
NCT00390247PHASE4WITHDRAWNThalidomide for the Treatment of Malnutrition Inflammation Syndrome in Peritoneal Dialysis Patients
NCT00417508PHASE4TERMINATEDNutritional Intervention in Malnourished Elderly Patients
NCT00440453PHASE4COMPLETEDFeeding the Patient at Nutritional Risk: Does the Clinical Outcome Improve?
NCT00501956PHASE4COMPLETEDIntradialytic Parenteral Nutrition in Hemodialysis Patients
NCT00530738PHASE4COMPLETEDSafety and Efficacy of Longterm HPN With Two Lipid Emulsions
NCT00885781PHASE4COMPLETEDEfficacy and Safety Comparison Between SMOFlipid and Lipovenoes MCT
NCT00895401PHASE4COMPLETEDDaVita Assessment of Nutritional Supplement Effects (DANSE)
NCT00968370PHASE4COMPLETEDTrial in Childhood Pneumonia With Malnutrition
NCT01076426PHASE4UNKNOWNProbiotics Use in the Chronic Peritoneal Dialysis Patients
NCT01154595PHASE4COMPLETEDEffectiveness of a Ready-to-Use-Food (RUF) Supplement to Prevent Acute Child Malnutrition
NCT01204411PHASE4WITHDRAWNEfficacy of Artesunate-amodiaquine (AS-AQ) in Children With Malaria and Severe Acute Malnutrition, Madaoua, Niger 2010
NCT01302509PHASE4COMPLETEDEnteral Nutrition in Cancer Patient
NCT01304446PHASE4COMPLETEDEnteral Nutrition in Cancer Patients
NCT01314937PHASE4COMPLETEDThe Effect of a Deworming Intervention to Improve Early Childhood Growth and Development in Resource-poor Areas
NCT01426750PHASE4COMPLETEDEnteral Nutrition Support in Children and Adolescents With Cancer
NCT01432769PHASE4UNKNOWNEnteral Nutrition After Cardiovascular Surgery
NCT01818258PHASE4COMPLETEDIMPAACT P1092: Steady State PK in Malnourished HIV Infected Children
NCT01831310PHASE4COMPLETEDNutrition for Colorectal Cancer Patients and Neutrophil Functions
NCT01943409PHASE4COMPLETEDIntravenous Nutrition in Hospitalized Patients: Comparison of Two Oils
NCT02005302PHASE4UNKNOWNOptimizing Treatment Programs for Chronic Kidney Disease-mineral and Bone Disorder and Malnutrition
NCT02048592PHASE4UNKNOWNImpact of Immunonutrition on the Patients With Cystic Fibrosis
NCT02060851PHASE4COMPLETEDEffects of Early Short-term Intravenous Iron Supplements Combined EPO in Preterm Infants
NCT02085044PHASE4COMPLETEDNon Randomized Controlled Intervention Study Comparing Two Interventions of Nutritional Supplement on Malnutrition, Health and Mortality
NCT02197871PHASE4UNKNOWNEffects of Nutritional Supplementation in Malnourished Patients in Stable COPD
NCT02232113PHASE4COMPLETEDFrequent Dosing of CERA Improves Nutrition and Inflammation in Hemodialysis Patients
NCT02360722PHASE4WITHDRAWNImproving Nutritional Status With Oral Nutritional Supplement in Chinese Elderly
NCT02414399PHASE4UNKNOWNAzithromycin to Prevent Post-discharge Morbidity and Mortality in Kenyan Children
NCT02517476PHASE4COMPLETEDEffect of Early Nutritional Therapy on Frailty, Functional Outcomes and Recovery of Undernourished Medical Inpatients Trial
NCT03065595PHASE4COMPLETEDThe Effect of Ophiocephalus Striatus Extract on Levels of IGF-1, Albumin, and MNA Score in Elderly With Malnutrition
NCT03481894PHASE4WITHDRAWNStudy to Assess Safety and Efficacy of Kabiven® in Pediatric Patients 2 to 16 Years of Age
NCT04607057PHASE4UNKNOWNSupplemental Parenteral Nutrition During Postgastrectomy in Nutritionally at Risk Patient
NCT06055543PHASE4UNKNOWNImpact of a New Plant-based High-energy Oral Nutritional Supplement on Nutritional Outcomes in Malnourished Patients
NCT06726486PHASE4COMPLETEDUse of a Hypercaloric and Hyperprotein Supplement Enriched with Immunonutrients in Multi-pathological Malnourished Patients to Improve the Incidence and Prevalence of Pressure Sores
NCT04398836PHASE3NOT_YET_RECRUITINGPreoperative Nutrition for Crohn’s Disease Patients

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ALBENDAZOLE43
PYRANTEL43
OCTREOTIDE42
RETINOL42
AZITHROMYCIN41
CEFTRIAXONE41
CYANOCOBALAMIN41
CYPROHEPTADINE HYDROCHLORIDE41
ERGOCALCIFEROL41
LAMIVUDINE41
MEBENDAZOLE41
MESALAMINE41
NIACINAMIDE41
NITAZOXANIDE41
OXANDROLONE41
TESTOSTERONE UNDECANOATE41
THALIDOMIDE41
SELENIUM32
L-CITRULLINE31
LACTOFERRIN, BOVINE31
LIPOIC ACID, ALPHA31
NABIXIMOLS31
ZINC ION31
LUFENURON21
CHEMBL332200002
CHEMBL335003702
CHEMBL42612301
CHEMBL429938101
CHEMBL120127901
CHEMBL430368101

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 23

This page pulls from 23 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpdoidefogenccgwasgwas_studyhgncicd10cmmeddramedgenmeshmimmondomondochildmondoparentncitorphanetsctidumls