ORPHA:93599
Primary hyperoxaluria type 2
Synonyms: D-glycerate dehydrogenase deficiency · L-glyceric aciduria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This disease is described under Primary hyperoxaluria
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hyperoxaluria type 2 | D-glycerate dehydrogenase deficiency · L-glyceric aciduria |
| fr | Hyperoxalurie primitive type 2 | Déficit en D-glycérate déshydrogénase · Acidurie L-glycérique |
| de | Hyperoxalurie, primäre, Typ 2 | D-Glycerat-Dehydrogenase-Mangel |
| es | Hiperoxaluria primaria tipo 2 | Aciduria L-glicérica · Deficiencia de D-glicerato deshidrogenasa |
| it | Iperossaluria primitiva, tipo 2 | Deficit di D-glicerato deidrogenasi |
| nl | Primaire hyperoxalurie type 2 | Deficiëntie van D-glyceraat-dehydrogenase · L-glycerinezuuracidurie |
| pt | Hiperoxalúria primária tipo 2 | Aciduria L-glicérica · Deficiência de D-glicerato desidrogenase |
| pl | Pierwotna hiperoksaluria typu 2 | Acyduria L-glicerynowa · Niedobór dehydrogenazy D-glicerynowej |
| cs | Primární hyperoxalurie, typ 2 | Deficit D-glycerát dehydrogenázy · L-glycerová acidurie |
| uk | Первинна гіпероксалурія, тип 2 | Дефіцит D-гліцератдегідрогенази · L-гліцеринова ацидурія |
| zh | 原发性高草酸尿症2型 | D-甘油酸脱氢酶缺乏症 |
| tr | Primer hiperoksalüri tip 2 | L-gliserik asidüri · D-gliserat dehidrojenaz eksikliği |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260000 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.2Y | NTBT | index | validated |
| MONDO | 0009824 | E | validated | |
| MeSH | C536415 | E | validated | |
| UMLS | C0268165 | E | validated | |
| GARD | 2836 | 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 (1):
- ORPHA:416Primary hyperoxaluria
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRHPR | Disease-causing germline mutation(s) in | Assessed | HGNC:4570 | ENSG00000137106 | 604296 | 9p13.2 | glyoxylate and hydroxypyruvate reductase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 23167815[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
6 annotations · validated 2017-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003159 | Hyperoxaluria | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| Frequent (79-30%) | ||
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0006000 | Ureteral obstruction | |
| Occasional (29-5%) | ||
| HP:0000083 | Renal insufficiency | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9243228[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93599
- This record as JSON: /data/d/93599.json