ORPHA:217330
REN-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-REN · FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2 · REN-associated FJHN · REN-associated familial juvenile hyperuricemic nephropathy · REN-associated kidney disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to <i>REN</i> mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | REN-related autosomal dominant tubulointerstitial kidney disease | ADTKD-REN · FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2 · REN-associated FJHN · REN-associated familial juvenile hyperuricemic nephropathy · REN-associated kidney disease |
| fr | Néphropathie tubulo-intersitielle autosomique dominante associée à REN | ADTKD-REN · FJHN associé à REN · FJHN type 2 · Néphropathie hyperuricémique juvénile familiale associée à REN · Néphropathie hyperuricémique juvénile familiale type 2 |
| de | Nierenkrankheit, tubulointerstitielle, autosomal-dominante, REN-assoziierte | REN-assoziierte Nierenkrankheit · REN-assoziierte familiäre juvenile hyperurikämische Nephropathie · ADTKD-REN · FJHN Typ 2 · Nephropathie, familiäre hyperurikämische juvenile, Typ 2 · REN-assoziierte FJHN |
| es | Síndrome de hiperuricemia-anemia-insuficiencia renal | ADTKD-REN |
| it | Iperuricemia - anemia - insufficienza renale | FJHN associata a REN · FJHN, tipo 2 · Malattia renale associata a REN · Nefropatia iperuricemica giovanile familiare associata a REN · Nefropatia iperuricemica giovanile familiare, tipo 2 |
| nl | REN-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte | ADTKD-REN · FJHN type 2 · Familiale juveniele hyperurikemische nefropathie type 2 · REN-geassocieerde FJHN · REN-geassocieerde familiale juveniele hyperurikemische nefropathie · REN-geassocieerde nierziekte |
| pt | Doença renal tubulointersticial autossómica dominante REN-relacionada | Hiperuricemia-anemia-insuficiência renal |
| pl | Hiperurykemia - niedokrwistość - niewydolność nerek | FJHN typu 2 · REN związana z rodzinną młodzieńczą nefropatią hiperurykemiczną · REN związane z FJHN · REN związane z choroba nerek · Rodzinna młodzieńcza nefropatia hiperurykemiczna typu 2 |
| cs | Syndrom zahrnující hyperurikémii, anémii a renální selhání | FJHN typ 2 · Familiární juvenilní hyperurikemická nefropatie, typ 2 · REN-asociovaná FJHN · REN-asociovaná familiární juvenilní hyperurikemická nefropatie · REN-asociované onemocnění ledvin |
| uk | Повязане з REN аутосомно-домінантне тубулоінтерстиціальне захворювання нирок | ADTKD-REN · Сімейна ювенільна гіперурикемічна нефропатія 2 типу · FJHN тип 2 · REN-асоційована сімейна ювенільна гіперурикемічна нефропатія · REN-асоційований FJHN · REN-асоційовані захворювання нирок |
| zh | REN基因相关的常染色体显性遗传肾小管间质性肾病 | REN基因相关的家族性青少年高尿酸血症肾病2型 |
| tr | REN -ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı | ADTKD-REN · FJHN tip 2 · REN-ilişkili FJHN · REN-ilişkili böbrek hastalığı · Ailesel jüvenil hiperürisemik nefropati tip 2 · REN-ilişkili ailesel jüvenil hiperürisemik nefropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613092 | E | validated | |
| ICD-10 | Q61.5 | NTBT | attributed | not yet validated |
| MONDO | 0013128 | E | validated | |
| UMLS | C4303080 | E | validated | |
| GARD | 13461 | 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:34149Autosomal dominant tubulointerstitial kidney disease
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| REN | Disease-causing germline mutation(s) in | Assessed | HGNC:9958 | ENSG00000143839 | 179820 | 1q32.1 | renin | 21473025[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217330
- This record as JSON: /data/d/217330.json