Details of Disease

Disease Name

niacin deficiency; niacin-tryptophan deficiency; pellagra

Definition

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.

Disease Hierarchy

DIS1UUNY: Malnutrition

DIS9YPUQ: Dermatological disease

DISAVNWB: Pellagra

Disease Identifiers

MONDO ID

MONDO_0019975

MESH ID

D010383

UMLS CUI

C0030783

MedGen ID

45364

Orphanet ID

97352

SNOMED CT ID

418186002

General Information of Disease (ID: DISAVNWB)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Nicotinamide	DMUPE07	Approved	Small molecular drug	[1]
Nicotine	DMWX5CO	Approved	Small molecular drug	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KMO	TTIY56R	No Known	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KMO	OT3MRMM9	No Known	Autosomal recessive	[3]
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References

1	Mechanistic Basis and Clinical Evidence for the Applications of Nicotinamide (Niacinamide) to Control Skin Aging and Pigmentation. Antioxidants (Basel). 2021 Aug 21;10(8):1315.
2	Nicotine FDA Label
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.