ORPHA:93598
Primary hyperoxaluria type 1
Synonyms: Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
This disease is described under Primary hyperoxaluria
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hyperoxaluria type 1 | Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency |
| fr | Hyperoxalurie primitive type 1 | Acidurie glycolique · Déficit en alanine-glyoxylate aminotransférase peroxysomale |
| de | Hyperoxalurie, primäre, Typ 1 | Alanin-Glyoxylat-Aminotransferase-Mangel, peroxisomaler · Azidurie, glykolische |
| es | Hiperoxaluria primaria tipo 1 | Aciduria glicólica · Deficiencia de alanina glioxilato aminotransferasa peroxisomal |
| it | Iperossaluria primitiva, tipo 1 | Aciduria glicolica · Deficit di alanina-gliossilato aminotransferasi perossisomiale |
| nl | Primaire hyperoxalurie type 1 | Deficiëntie van peroxisomaal alanineglyoxylaat-aminotransferase · Glycolacidurie |
| pt | Deficiência de alanina-glioxilato aminotransferase (hiperoxalúria tipo 1) | |
| pl | Pierwotna hiperoksaluria typu 1 | Acyduria glikolowa · Niedobór peroksymalnej aminotransferazy alanino-glioksylanowej |
| cs | Primární hyperoxalurie, typ 1 | Glykolická acidurie · Deficit peroxisomální alanin-glyoxylát aminotransferázy · Zvýšené vylučování glykolátu |
| uk | Первинна гіпероксалурія, тип 1 | Гліколієва ацидурія · Пероксисомний дефіцит аланін-гліоксилат-амінотрансферази |
| zh | 原发性高草酸尿症1型 | 过氧化物酶体丙氨酸-乙醛酸氨基转移酶缺乏症 |
| tr | Primer hiperoksalüri tip 1 | Glikolik asidüri · Peroksizomal alanin-glioksilat aminotransferaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259900 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.20 | E | specific | validated |
| MONDO | 0009823 | E | validated | |
| MeSH | C536414 | E | validated | |
| UMLS | C0268164 | E | validated | |
| GARD | 2835 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:416Primary hyperoxaluria
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AGXT | Disease-causing germline mutation(s) in | Assessed | HGNC:341 | ENSG00000172482 | 604285 | 2q37.3 | alanine--glyoxylate aminotransferase |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | Netherlands | Value and class | Validated | 12543880[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.29 / 100 000 | Netherlands | Value and class | Validated | 12543880[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Switzerland | Value and class | Validated | 8808215[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Switzerland | Value and class | Validated | 8808215[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.83 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | France | Value and class | Validated | 8592622[PMID]_[EXPERT] |
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
19 annotations · validated 2017-05-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011021 | Abnormality of circulating enzyme level | |
| HP:0001903 | Anemia | |
| HP:0003761 | Calcinosis | |
| HP:0003159 | Hyperoxaluria | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| Frequent (79-30%) | ||
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0100518 | Dysuria | |
| HP:0001508 | Failure to thrive | |
| HP:0000790 | Hematuria | |
| Occasional (29-5%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000805 | Enuresis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Very rare (<4-1%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002621 | Atherosclerosis | |
| HP:0001297 | Stroke | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301460[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93598
- This record as JSON: /data/d/93598.json