Details of Disease

General Information of Disease (ID: DISXDZWS)

Disease Name Alkaptonuria
Synonyms
deficiency of homogentisicase; aku; ochronosis, hereditary; alkaptonuric ochronosis; homogentisic acidura; homogentisic acid oxidase deficiency; alkaptonuria; alcaptonuria; homogentisate 1,2-dioxygenase deficiency; hereditary ochronosis
Definition
A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
Disease Hierarchy
DISQGNHK: Disorder of tyrosine metabolism
DISXDZWS: Alkaptonuria
Disease Identifiers
MONDO ID
MONDO_0008753
MESH ID
D000474
UMLS CUI
C0002066
OMIM ID
203500
MedGen ID
1413
Orphanet ID
56
SNOMED CT ID
360378009

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
CHIT1 TTDYX6T Strong Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARL13B OT9PYPV1 Strong Altered Expression [2]
CYLD OT37FKH0 Strong Biomarker [3]
TNMD OTHLVA9G Strong Biomarker [3]
HGD OTTKLQOO Definitive Autosomal recessive [4]
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References

1 Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.FASEB J. 2019 Nov;33(11):12696-12703. doi: 10.1096/fj.201901529R. Epub 2019 Aug 28.
2 Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.J Cell Physiol. 2017 Sep;232(9):2407-2417. doi: 10.1002/jcp.25839. Epub 2017 Mar 31.
3 Cytoskeleton Aberrations in Alkaptonuric Chondrocytes.J Cell Physiol. 2017 Jul;232(7):1728-1738. doi: 10.1002/jcp.25500. Epub 2017 Jan 31.
4 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.