AKU
MCID: ALK013
MIFTS: 61
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Alkaptonuria (AKU)
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Alkaptonuria:
Characteristics:Inheritance:Prevelance:
1-9/1000000 (Worldwide, Europe, France)
1-9/100000 (Slovakia, Slovakia) 58
Age Of Onset:
Adult,Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
urine turns dark on standing and alkalinization joint symptoms begin in third or fourth decade affects 1 in 250,000 to 1 million people worldwide Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases Eye diseases Skin diseases Bone diseases Nephrological diseases
ICD10:
32
ICD11:
33
Orphanet: 58
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OMIM®: 57 Alkaptonuria is an autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of the cardiac valves (summary by Vilboux et al., 2009). Alkaptonuria enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed (by Garrod, 1902, on the suggestion of Bateson) and of being 1 of the 4 conditions in the charter group of inborn errors of metabolism. The manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and arthritis, especially characteristic in the spine. (203500) (Updated 08-Dec-2022) MalaCards based summary: Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and abdominal obesity-metabolic syndrome 1, and has symptoms including back pain An important gene associated with Alkaptonuria is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and D-Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and eye, and related phenotypes are joint stiffness and aminoaciduria MedlinePlus Genetics: 42 Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. GARD: 19 Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of Alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by genetic changes in the HGD gene. It is inherited in an autosomal recessive fashion. Orphanet: 58 A rare disorder of phenylalanine and tyrosine metabolism 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). UniProtKB/Swiss-Prot: 73 An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. Disease Ontology: 11 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. Wikipedia: 75 Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the... more...
GeneReviews:
NBK1454
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Human phenotypes related to Alkaptonuria:58 30 (show all 45)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:203500 (Updated 08-Dec-2022)UMLS symptoms related to Alkaptonuria:back pain GenomeRNAi Phenotypes related to Alkaptonuria according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Alkaptonuria:45
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Drugs for Alkaptonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: alkaptonuria |
Organs/tissues related to Alkaptonuria:
MalaCards :
Skin,
Prostate,
Eye,
Kidney,
Heart,
Bone,
Liver
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Articles related to Alkaptonuria:(show top 50) (show all 1493)
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ClinVar genetic disease variations for Alkaptonuria:5 (show top 50) (show all 243)
UniProtKB/Swiss-Prot genetic disease variations for Alkaptonuria:73 (show top 50) (show all 68)
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Pathways related to Alkaptonuria according to GeneCards Suite gene sharing:(show all 12)
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Biological processes related to Alkaptonuria according to GeneCards Suite gene sharing:
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