eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ochronosis | ||||
| Disease ID | 1838 |
|---|---|
| Disease | ochronosis |
| Definition | WHAT: Ochronosis.sOchronosis: the pathologic accumulation of a blue-black pigment in the connective tissues of persons with alkaptonuria, a rare inborn error of metabolism. These persons lack the enzyme homogentisic acid oxidase, resulting in a buildup of homogentisic acid, a precursor of the pigment.sWHY:sThe great majority of patients with ochronosis eventually develop an arthropathy clinically resembling degenerative joint disease.sHOW:sOchronosis is diagnosed by the combination of pigmentation of the cartilage, the presence of homogentisic acid in the urine, and arthritis usually involving the knees, hips, lumbosacral spine, and shoulders. The slate blue-black pigmentation is most apparent in the sclera of the eyes, the external ears, and the tympanic membranes. The cerumen may also show a dark discoloration. The presence of homogentisic acid in the urine is determined by the dark color which occurs when the urine is alkalinized and by paper chromatography.sREFS:sSchumacher HR and Holdsworth DE: Ochronotic arthropathy I. Clinico-pathologic Studies. Semin Arthritis Rheum 6:207, 1977. DN19296-1. |
| Synonym | ochronoses ochronosis (disorder) ochronosis [disease/finding] |
| DOID | |
| UMLS | C0028817 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0042164 | uveitis | 1 C0003507 | aortic valve stenosis | 1 C0036202 | sarcoid | 1 C0042165 | anterior uveitis | 1 C0022661 | end-stage renal failure | 1 C0011570 | depression | 1 C0026266 | mitral insufficiency | 1 C0003507 | aortic stenosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:5) |
| Locus | (Waiting for update.) |
| Disease ID | 1838 |
|---|---|
| Disease | ochronosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0001650 | Valvular aortic stenosis | 2 HP:0012122 | Anterior uveitis | 1 HP:0012531 | Pain | 1 HP:0003774 | End-stage renal failure | 1 HP:0012532 | Chronic pain | 1 HP:0002829 | Arthralgias | 1 HP:0001653 | Mitral valve insufficiency | 1 HP:0000716 | Depression | 1 HP:0000554 | Uveitis | 1 |
| Disease ID | 1838 |
|---|---|
| Disease | ochronosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 | 1838 |
|---|---|
| Disease | ochronosis |
| Case | (Waiting for update.) |