Alkaptonuria - CISMeF

Preferred Label : Alkaptonuria;

Symbol : AKU;

CISMeF acronym : AKU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Homogentisic acid oxidase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homogentisate 1,2-dioxygenase gene (HGD, 607474.0001);

Laboratory abnormalities : Increased plasma homogentisic acid (HGA); Increased urinary HGA; Decreased liver homogentisate 1,2-dioxygenase activity;

Prefixed ID : #203500;

Details

Origin ID

203500;

UMLS CUI

C0002066;

Currated CISMeF NLP mapping
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alcaptonuria [PASCAL descriptor]
- Alkaptonuria [ICD-11 Sub-sub category]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria [NCIt concept]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria (finding) [SNOMED CT concept]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- Ochronosis, hereditary [MeSH concept]
- alkaptonuria [DO Concept]
- alkaptonuria [Disease (Nov.)]
- alkaptonuria [MeSH Descriptor]
- alkaptonuria [MeSH concept]
- alkaptonuria [SNOMED Notion]
- ochronosis, hereditary [MeSH Supplementary Concept]
DO Cross reference
- alkaptonuria [DO Concept]
Genes related to phenotype
- Homogentisate 1,2-dioxygenase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Aortic aneurysm [HPO term]
- Aortic valve calcification [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coronary artery calcification [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Diminished physical functioning [HPO term]
- Elevated urinary homogentisic acid [HPO term]
- Growth abnormality [HPO term]
- Infantile onset [HPO term]
- Intervertebral disc degeneration [HPO term]
- Kyphosis [HPO term]
- Limitation of knee mobility [HPO term]
- Limited hip movement [HPO term]
- Limited shoulder movement [HPO term]
- Low back pain [HPO term]
- Mitral valve calcification [HPO term]
- Nephrolithiasis [HPO term]
- Ochronosis [HPO term]
- Pigmentation of the sclera [HPO term]
- Thickened Achilles tendon [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Alkaptonuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria [NCIt concept]
- Alkaptonuria [ICD-11 Sub-sub category]
- Alkaptonuria (finding) [SNOMED CT concept]
- Black urine disease [MedDRA LLT]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- alkaptonuria [SNOMED Notion]
- alkaptonuria [MeSH Descriptor]
- alkaptonuria [MeSH concept]
- alkaptonuria [DO Concept]
- alkaptonuria [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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