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pellagra - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pellagra

MONDO:0019975

Also known as:niacin deficiencyniacin-tryptophan deficiency

Overview

Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Vitamin B3 deficiency; and common findings: Cutaneous photosensitivity, Vomiting, Difficulty swallowing (dysphagia), and Nausea and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Difficulty swallowing (dysphagia), Headache, Fatigue

Prognosis

Phenotype severity distribution: 1 very common feature, 27 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pellagra.

42 publications have been identified in PubMed for pellagra. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	21	53%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97352

GARD

Genetic and Rare Diseases Info Center

GARD:10014

Questions for Your Care Team

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Kisho

pellagra

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pellagra

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications