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AKU
MCID: ALK013
MIFTS: 57
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Alkaptonuria (AKU)
Categories:
Bone diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Alkaptonuria:
Characteristics:Orphanet epidemiological data:60
alkaptonuria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (France),1-9/100000 (Slovakia); Age of onset: Adult,Infancy; Age of death: normal life expectancy; OMIM:58
Inheritance:
autosomal recessive
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 HPO:33GeneReviews:25
Penetrance
Elevated urinary hga and ochronotic arthritis occur in all individuals who are homozygous or compound heterozygous for pathogenic variants in hgd...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Eye diseases Skin diseases Bone diseases Nephrological diseases
ICD10:
35
External Ids:
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OMIM
:
58
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)
MalaCards based summary : Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and inherited metabolic disorder, 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 Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Nitisinone and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and prostate, and related phenotypes are joint dislocation and osteoarthritis Disease Ontology : 12 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. Genetics Home Reference : 26 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. NIH Rare Diseases : 54 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. Ochronosis starts after age 30 and arthritis in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene. It is inherited in an autosomal recessive fashion. There is still no cure for this disease. Treatment includes the management of joint pain, physical and occupational therapy, joint replacements and surgery when needed. UniProtKB/Swiss-Prot : 76 Alkaptonuria: 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. Wikipedia : 77 Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids... more...
GeneReviews:
NBK1454
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Human phenotypes related to Alkaptonuria:60 33 (show all 41)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:203500UMLS symptoms related to Alkaptonuria:back pain MGI Mouse Phenotypes related to Alkaptonuria:47
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Drugs for Alkaptonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: alkaptonuria |
MalaCards organs/tissues related to Alkaptonuria:42
Kidney,
Heart,
Prostate,
Skin,
Bone,
Eye,
Liver
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Articles related to Alkaptonuria:(show top 50) (show all 438)
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Genes related to Alkaptonuria (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Alkaptonuria:76 (show top 50) (show all 68)
ClinVar genetic disease variations for Alkaptonuria:6 (show top 50) (show all 172)
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Pathways related to Alkaptonuria according to KEGG:38
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Cellular components related to Alkaptonuria according to GeneCards Suite gene sharing:
Biological processes related to Alkaptonuria according to GeneCards Suite gene sharing:
Molecular functions related to Alkaptonuria according to GeneCards Suite gene sharing:
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