eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pellagra | ||||
| Disease ID | 1554 |
|---|---|
| Disease | pellagra |
| Definition | A disease due to deficiency of NIACIN, a B-complex vitamin, or its precursor TRYPTOPHAN. It is characterized by scaly DERMATITIS which is often associated with DIARRHEA and DEMENTIA (the three D's). |
| Synonym | deficiencies niacin deficiency niacin niacin deficiency niacin deficiency (disorder) niacin deficiency niacin deficiency pellagra niacin-tryptophan deficiency nicotinamide deficiency nicotinic acid deficiency pellagra (disorder) pellagra [disease/finding] pellagra disorder pellagras vitamin b3 deficiency vitamin pp deficiency |
| Orphanet | |
| DOID | |
| UMLS | C0030783 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0011991 | diarrhea | 2 C0030783 | pellagra | 2 C0011603 | dermatitis | 2 C0011570 | depression | 1 C0085642 | livedo reticularis | 1 C0023801 | lipomatosis | 1 C0024523 | malabsorption syndrome | 1 C0043121 | wernicke's encephalopathy | 1 C0497327 | dementia | 1 C0030783 | nicotinic acid deficiency | 1 C1527336 | sjogren's syndrome | 1 C0024523 | malabsorption | 1 C0017675 | glossitis | 1 C0030783 | niacin deficiency | 1 C0015230 | rash | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 130013 | ACMSD | 3.982 | DISEASES 617 | BCS1L | 2.595 | DISEASES 1365 | CLDN3 | 1.863 | DISEASES 2042 | EPHA3 | 2.107 | DISEASES 2073 | ERCC5 | 2.03 | DISEASES 2520 | GAST | 1.165 | DISEASES 27232 | GNMT | 2.637 | DISEASES 338442 | HCAR2 | 3.294 | DISEASES 3551 | IKBKB | 1.197 | DISEASES 8517 | IKBKG | 1.45 | DISEASES 3654 | IRAK1 | 1.733 | DISEASES 8564 | KMO | 2.495 | DISEASES 4536 | MT-ND2 | 2.039 | DISEASES 4638 | MYLK | 2.792 | DISEASES 4694 | NDUFA1 | 2.48 | DISEASES 4780 | NFE2L2 | 1.942 | DISEASES 100506658 | OCLN | 1.979 | DISEASES 142 | PARP1 | 2.446 | DISEASES 5498 | PPOX | 2.189 | DISEASES 9536 | PTGES | 1.471 | DISEASES 23475 | QPRT | 4.284 | DISEASES 353116 | RILPL1 | 2.754 | DISEASES 6510 | SLC1A5 | 2.04 | DISEASES 1811 | SLC26A3 | 1.786 | DISEASES 54716 | SLC6A20 | 3.178 | DISEASES 6731 | SRP72 | 3.074 | DISEASES 246329 | STAC3 | 3.104 | DISEASES 6999 | TDO2 | 4.712 | DISEASES 8914 | TIMELESS | 3.609 | DISEASES 7086 | TKT | 1.85 | DISEASES 54209 | TREM2 | 1.721 | DISEASES 7453 | WARS | 2.746 | DISEASES 23038 | WDTC1 | 1.192 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1554 |
|---|---|
| Disease | pellagra |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0002014 | Diarrhea | 2 HP:0001298 | Encephalopathy | 2 HP:0000992 | Skin photosensitivity | 2 HP:0001336 | Myoclonic jerks | 1 HP:0000988 | Exanthem | 1 HP:0002024 | Intestinal malabsorption | 1 HP:0000716 | Depression | 1 HP:0000726 | Dementia | 1 HP:0000965 | Livedo reticularis | 1 HP:0000206 | Inflammation of the tongue | 1 |
| Disease ID | 1554 |
|---|---|
| Disease | pellagra |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:17) C1994997 | intestinal symptoms C1000483 | anemia C0752303 | urological manifestations C0730362 | maculopathy C0263556 | tropical ulcer C0262972 | acute dermatitis C0240182 | leukonychia C0233401 | psychiatric symptoms C0221505 | cerebral lesions C0155550 | neural deafness C0151467 | addisonian crisis C0042875 | vitamin e deficiency C0033975 | psychosis C0030499 | parasitosis C0027813 | neuritis C0019693 | hiv infection C0010346 | crohn's disease |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1554 |
|---|---|
| Disease | pellagra |
| Case | (Waiting for update.) |