ORPHA:56
Alkaptonuria
Synonyms: Hereditary ochronosis · Homogentisic acid oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Infancy
- Status
- active
A rare inborn error of metabolism disorder characterized by homogentisic acid accumulation causing dark urine.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alkaptonuria | Hereditary ochronosis · Homogentisic acid oxidase deficiency |
| fr | Alcaptonurie | Déficit en homogentisicase · Déficit en oxydase de l'acide homogentisique · Ochronose héréditaire |
| de | Alkaptonurie | Homogentisin(säure)oxigenase-Mangel · Ochronose, hereditäre |
| es | Alcaptonuria | Deficiencia de homogentisico oxidasa · Ocronosis hereditaria |
| it | Alcaptonuria | Deficit di acido omogentisico ossidasi · Ocronosi ereditaria |
| nl | Alkaptonurie | Endogene ochronose · Erfelijke ochronose · Homogenisaatoxidasedeficiëntie · Homogenistinezuuroxidasedeficiëntie |
| pt | Alcaptonúria | Deficiência de ácido homogentísico oxidase · Ocronose hereditária |
| pl | Alkaptonuria | Dziedziczna ochronoza · Niedobór oksydazy kwasu homogentyzynowego |
| cs | Alkaptonurie | Deficit oxidázy homogentisové kyseliny · Dědičná ochronóza |
| uk | Алкаптонурія | Спадковий охроноз · Дефіцит оксидази гомогентизинової кислоти |
| zh | 黑酸尿症 | 尿黑酸氧化酶缺乏症 |
| tr | Alkaptonüri | Kalıtsal okronoz · Homojentisik asit oksidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203500 | E | validated | |
| ICD-10 | E70.2 | NTBT | inclusion | validated |
| ICD-11 | 5C50.10 | E | specific | validated |
| MONDO | 0008753 | E | validated | |
| MeSH | D000474 | E | validated | |
| UMLS | C0002066 | E | validated | |
| GARD | 5775 | E | validated | |
| MedDRA | 10001689 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79387Metabolic disease with skin involvement
rare genetic diseases - ORPHA:79217Other metabolic disease with skin involvement
rare skin diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HGD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4892 | ENSG00000113924 | 607474 | 3q13.33 | homogentisate 1,2-dioxygenase | 20301627[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2003[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | France | Value and class | Validated | 21927854[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only | Not yet validated | 21927854[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | United States | Value and class | Not yet validated | 20301627[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only | Not yet validated | 20301627[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.3 / 100 000 | Slovakia | Value and class | Validated | 12051967[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Slovakia | Class only | Validated | 12051967[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
50 annotations · validated 2023-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000504 | Abnormality of vision | |
| HP:0003355 | Aminoaciduria | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0100593 | Calcification of cartilage | |
| HP:0001717 | Coronary artery calcification | |
| HP:0033704 | Elevated urinary homogentisic acid | |
| HP:0000364 | Hearing abnormality | |
| HP:0005645 | Intervertebral disk calcification | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001373 | Joint dislocation | |
| HP:0001387 | Joint stiffness | |
| HP:0001386 | Joint swelling | |
| HP:0030764 | Ochronosis | |
| HP:0002758 | Osteoarthritis | |
| Frequent (79-30%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000366 | Abnormality of the nose | |
| HP:0004380 | Aortic valve calcification | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0003418 | Back pain | |
| HP:0100773 | Cartilage destruction | |
| HP:0040319 | Dark urine | |
| HP:0004382 | Mitral valve calcification | |
| HP:0000787 | Nephrolithiasis | |
| HP:6000027 | Oil-drop brown pigmentation of the corneal limbus | Pathognomonic sign |
| HP:0007832 | Pigmentation of the sclera | |
| HP:0000024 | Prostatitis | |
| HP:0100550 | Tendon rupture | |
| HP:0004690 | Thickened Achilles tendon | |
| Occasional (29-5%) | ||
| HP:0011034 | Amyloidosis | |
| HP:0004942 | Aortic aneurysm | |
| HP:0002621 | Atherosclerosis | |
| HP:0011982 | Black pigment gallstones | |
| HP:0025612 | Corneal astigmatism | |
| HP:6000025 | Dark cerumen | |
| HP:0000501 | Glaucoma | |
| HP:0001878 | Hemolytic anemia | |
| HP:0000822 | Hypertension | |
| HP:0000821 | Hypothyroidism | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0012119 | Methemoglobinemia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001718 | Mitral stenosis | |
| HP:0001658 | Myocardial infarction | |
| HP:0007906 | Ocular hypertension | |
| HP:0034882 | Prostatic calculus | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301627[PMID]_37268334[PMID]_37395296[PMID]_32809406[PMID]_35015405[PMID]_24479547[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/56
- This record as JSON: /data/d/56.json