ORPHA:94088
Hereditary renal hypouricemia
Synonyms: Familial renal hypouricemia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary renal hypouricemia | Familial renal hypouricemia |
| fr | Hypo-uricémie rénale héréditaire | Hypo-uricémie rénale familiale |
| de | Hypourikämie, hereditäre renale | Familiäre renale Hypourikämie |
| es | Hipouricemia renal hereditaria | Hipouricemia renal familiar |
| it | Ipouricemia renale ereditaria | Ipouricemia renale familiare |
| nl | Hereditaire renale hypo-urikemie | Familiale renale hypo-urikemie |
| pt | Hipouricemia renal hereditária | Hipouricemia renal familiar |
| pl | Dziedziczna hipourykemia nerkowa | = en |
| cs | Dědičná renální hypourikémie | = en |
| uk | Спадкова ниркова гіпоурикемія | Сімейна ниркова гіпоурикемія |
| zh | 遗传性肾性低尿酸血症 | |
| tr | Kalıtsal renal hipürisemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220150 | E | validated | |
| OMIM | 242050 | BTNT | validated | |
| OMIM | 307830 | BTNT | validated | |
| OMIM | 612076 | BTNT | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.4Y | NTBT | index | validated |
| MONDO | 0009071 | E | validated | |
| UMLS | C4551590 | E | validated | |
| GARD | 9496 | 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 (3):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC22A12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17989 | ENSG00000197891 | 607096 | 11q13.1 | solute carrier family 22 member 12 | 21148271[PMID]_23386035[PMID] |
| SLC2A9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13446 | ENSG00000109667 | 606142 | 4p16.1 | solute carrier family 2 member 9 | 19926891[PMID]_21810765[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
16 annotations · validated 2021-03-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003149 | Hyperuricosuria | Diagnostic criterion |
| HP:0003537 | Hypouricemia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0030973 | Postexertional malaise | |
| Frequent (79-30%) | ||
| HP:0012211 | Abnormal renal physiology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0001919 | Acute kidney injury | |
| HP:0008651 | Uric acid urolithiasis independent of gout | |
| Occasional (29-5%) | ||
| HP:0003418 | Back pain | |
| HP:0012622 | Chronic kidney disease | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0000790 | Hematuria | |
| HP:0002150 | Hypercalciuria | |
| HP:0003138 | Increased blood urea nitrogen | |
| HP:0012595 | Mild proteinuria | |
| HP:0002018 | Nausea | |
| HP:0002013 | Vomiting | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27116386[PMID]_30097038[PMID]_31602378[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94088
- This record as JSON: /data/d/94088.json