Primary hyperoxaluria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hyperoxaluria | |
| fr | Hyperoxalurie primitive | |
| de | Hyperoxalurie, primäre | |
| es | Hiperoxaluria primaria | |
| it | Iperossaluria primitiva | |
| nl | Primaire hyperoxalurie | |
| pt | Hiperoxalúria primária | |
| pl | Pierwotna hiperoksaluria | |
| cs | Primární hyperoxalurie | |
| uk | Первинна гіпероксалурія | |
| zh | 原发性高草酸尿症 | |
| tr | Primer hiperoksalüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259900 | BTNT | validated | |
| OMIM | 260000 | BTNT | validated | |
| OMIM | 613616 | BTNT | validated | |
| ICD-10 | E74.8 | NTBT | inclusion | validated |
| ICD-11 | 5C51.2 | NTBT | attributed | validated |
| MONDO | 0002474 | E | validated | |
| MeSH | D006960 | E | validated | |
| UMLS | C0020501 | E | validated | |
| MedDRA | 10020703 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:308998Disorder of glyoxylate metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| AGXT | ORPHA:93598Primary hyperoxaluria type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:341 | ENSG00000172482 | 604285 | 2q37.3 | alanine--glyoxylate aminotransferase | |
| GRHPR | ORPHA:93599Primary hyperoxaluria type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4570 | ENSG00000137106 | 604296 | 9p13.2 | glyoxylate and hydroxypyruvate reductase | |
| HOGA1 | ORPHA:93600Primary hyperoxaluria type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:25155 | ENSG00000241935 | 613597 | 10q24.2 | 4-hydroxy-2-oxoglutarate aldolase 1 |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Germany | Value and class | Validated | 15961947[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15961947[PMID] |
| Annual incidence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 19225556[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.
HPO phenotypes
33 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008672 | Calcium oxalate nephrolithiasis | |
| HP:0003159 | Hyperoxaluria | |
| Frequent (79-30%) | ||
| HP:0006479 | Abnormality of the dental pulp | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0012072 | Aciduria | |
| HP:0025324 | Arterial occlusion | |
| HP:0002653 | Bone pain | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0012622 | Chronic kidney disease | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0031981 | Elevated urine glycolate | |
| HP:0001508 | Failure to thrive | |
| HP:0100758 | Gangrene | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0012722 | Heart block | |
| HP:0000790 | Hematuria | |
| HP:0004417 | Intermittent claudication | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000648 | Optic atrophy | |
| HP:0000543 | Optic disc pallor | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0002757 | Recurrent fractures | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000488 | Retinopathy | |
| HP:0011072 | Rootless teeth | |
| Occasional (29-5%) | ||
| HP:0001063 | Acrocyanosis | |
| HP:0002150 | Hypercalciuria | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Very rare (<4-1%) | ||
| HP:0025520 | Calcinosis cutis | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000965 | Cutis marmorata | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28402768[PMID]_23944302[PMID]_23167815[PMID]_5635456[PMID]_2297338[PMID]_2925788[PMID]_9243228[PMID]_26340091[PMID]_20797690[PMID]_24140676[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/416
- This record as JSON: /data/d/416.json