Dent disease
Synonyms: Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis · Renal Fanconi syndrome with nephrocalcinosis and renal stones · X-linked recessive hypercalciuric hypophosphatemic rickets · X-linked recessive nephrolithiasis
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with <i>CLCN5</i> variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with <i>OCRL1</i> variants.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dent disease | Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis · Renal Fanconi syndrome with nephrocalcinosis and renal stones · X-linked recessive hypercalciuric hypophosphatemic rickets · X-linked recessive nephrolithiasis |
| fr | Maladie de Dent | Néphrolithiase liée à l'X · Protéinurie de faible poids moléculaire avec hypercalciurie et néphrocalcinose · Syndrome de Dent · Syndrome de Fanconi rénal-néphrocalcinose-calculs rénaux |
| de | Dent-Krankheit | Dent-Syndrom · Nephrolithiasis, X-chromosomal-rezessive · Niedermolekulare Proteinurie mit Hyperkalziurie und Nephrokalzinose · Rachitis, hypokalziurische hypophosphatämische, X-chromosomal-rezessive · Renales Fanconi-Syndrom mit Nephrokalzinose und Nierensteinen |
| es | Enfermedad de Dent | Nefrolitiasis recesiva ligada al cromosoma X · Proteinuria de bajo peso molecular con hipercalciuria y nefrocalcinosis · Raquitismo hipofosfatémico recesivo ligado al cromosoma X con hipercalciuria · Síndrome de Dent · Síndrome de Fanconi renal con nefrocalcinosis y cálculos renales |
| it | Malattia di Dent | Nefrolitiasi recessiva legata all'X · Proteinuria da basso peso molecolare con ipercalciuria e nefrocalcinosi · Rachitismo ipofosfatemico ipercalciurico recessivo legato all'X · Sindrome di Dent · Sindrome renale di Fanconi con nefrocalcinosi e calcolosi renale |
| nl | Ziekte van Dent | Laag-molecuulgewicht proteïnurie met hypercalciurie en nefrocalcinose · Renaal syndroom van Fanconi met nefrocalcinose en nierstenen · Syndroom van Dent · X-gebonden recessieve hypercalciurische hypofosfatemische rachitis · X-gebonden recessieve nefrolithiase |
| pt | Doença de Dent | Nefrolitíase hipercalciúrica ligada ao X |
| pl | Choroba Denta | Białkomocz drobnocząsteczkowy z hiperkalciurią i nefrokalcynozą · Nerkowy zespół Fanconiego z nefrokalcynozą i kamieniami nerkowymi · Recesywna kamica nerkowa sprzężona z chromosomem X · Recesywna krzywica hipofosfatemiczna z hiperkalciurią sprzężona z chromosomem X · Zespół Denta |
| cs | Dentova choroba | Nízkomolekulární proteinurie s hyperkalciurií a nefrokalcinózou · Renální Fanconiho syndrom s nefrokalcinózou a ledvinovými kameny · X-vázaná recesivní nefrolitiáza · Dentův syndrom · X-vázaná recesivní hyperkalciurická hypofosfatemická křivice |
| uk | Хвороба Дента | Синдром Дента · Низькомолекулярна протеїнурія з гіперкальціурією та нефрокальцинозом · Нирковий синдром Фанконі з нефрокальцинозом та нирковими каменями · Х-зчеплений рецесивний гіперкальціуричний гіпофосфатемічний рахіт · Х-зчеплений рецесивний нефролітіаз |
| zh | Dent病 | 低分子蛋白尿伴高钙尿和肾钙质沉着 |
| tr | Dent hastalığı | Dent sendromu · X'e bağlı Çekinik nefrolitiyazis · X'e bağlı Çekinik hiperkalsiürik hipofosfatemik raşitizm · Nefrokalsinoz ve böbrek taşlar ile seyreden renal Fanconi sendromu · Hiperkalsiüri ve nefrokalsinoz ile seyreden düşük moleküler ağırlıklı proteinüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300009 | BTNT | validated | |
| OMIM | 300554 | BTNT | validated | |
| OMIM | 300555 | BTNT | validated | |
| OMIM | 308990 | BTNT | validated | |
| OMIM | 310468 | BTNT | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.42 | NTBT | index | validated |
| MONDO | 0015612 | E | validated | |
| MeSH | D057973 | E | validated | |
| UMLS | C0878681 | E | validated | |
| GARD | 13105 | E | validated | |
| MedDRA | 10069199 | 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 (2):
- ORPHA:437Hypophosphatemic rickets
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| CLCN5 | ORPHA:93622Dent disease type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2023 | ENSG00000171365 | 300008 | Xp11.23 | Cl-/H+ antiporter 5 | 22876375[PMID]_21305656[PMID]_18540256[PMID] |
| OCRL | ORPHA:93623Dent disease type 2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8108 | ENSG00000122126 | 300535 | Xq26.1 | OCRL inositol polyphosphate-5-phosphatase | 22876375[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 families | Worldwide | Family(ies) | Validated | 20946626[PMID] | |
| 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.
HPO phenotypes
40 annotations · validated 2016-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0012622 | Chronic kidney disease | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0003076 | Glycosuria | |
| HP:0000790 | Hematuria | |
| HP:0031415 | High serum calcitriol | |
| HP:0002150 | Hypercalciuria | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0003149 | Hyperuricosuria | |
| HP:0003126 | Low-molecular-weight proteinuria | |
| HP:0000787 | Nephrolithiasis | |
| HP:0005574 | Non-acidotic proximal tubulopathy | |
| HP:0000093 | Proteinuria | |
| HP:0000114 | Proximal tubulopathy | |
| HP:0002757 | Recurrent fractures | |
| HP:0008732 | Renal hypophosphatemia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000117 | Renal phosphate wasting | |
| HP:0000092 | Renal tubular atrophy | |
| HP:0005576 | Tubulointerstitial fibrosis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002653 | Bone pain | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0000121 | Nephrocalcinosis | |
| Occasional (29-5%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002979 | Bowing of the legs | |
| HP:0003013 | Bulging epiphyses | |
| HP:0000518 | Cataract | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0010580 | Enlarged epiphyses | |
| HP:0003029 | Enlargement of the ankles | |
| HP:0003020 | Enlargement of the wrists | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0011342 | Mild global developmental delay | |
| HP:0002749 | Osteomalacia | |
| HP:0002748 | Rickets | |
| HP:0002752 | Sparse bone trabeculae | |
| HP:0002753 | Thin bony cortex | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 1908057[PMID]_7753256[PMID]_15627218[PMID]_7915957[PMID]_3316563[PMID]_12815097[PMID]_11099045[PMID]_1372109[PMID]_10202170[PMID]_15558518[PMID]_9452994[PMID]_20946626[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1652
- This record as JSON: /data/d/1652.json