ORPHA:730
Autosomal dominant polycystic kidney disease
Synonyms: ADPKD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant polycystic kidney disease | ADPKD |
| fr | Polykystose rénale autosomique dominante | ADPKD · PKD |
| de | Nierenkrankheit, polyzystische, autosomal-dominante | = en |
| es | Enfermedad renal poliquística autosómica dominante | PQRAD · Poliquistosis renal autosómica dominante |
| it | Malattia del rene policistico, autosomica dominante | = en |
| nl | Autosomaal dominante polycystische nierziekte | = en |
| pt | Doença renal poliquística autossómica dominante | |
| pl | Autosomalna dominująca wielotorbielowatość nerek | = en |
| cs | Autozomálně dominantní polycystóza ledvin | = en |
| uk | Аутосомно-домінантний полікістоз нирок | = en |
| zh | 常染色体显性多囊肾病 | = en |
| tr | Otozomal dominant polikistik böbrek hastalığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173900 | BTNT | validated | |
| OMIM | 600666 | BTNT | validated | |
| OMIM | 613095 | BTNT | validated | |
| OMIM | 618061 | BTNT | validated | |
| OMIM | 620056 | BTNT | validated | |
| OMIM | 620903 | BTNT | validated | |
| ICD-10 | Q61.2 | E | specific | validated |
| ICD-11 | GB81 | E | specific | validated |
| MONDO | 0004691 | E | validated | |
| MeSH | D016891 | E | validated | |
| UMLS | C0085413 | E | validated | |
| GARD | 10413 | E | validated | |
| MedDRA | 10036046 | 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 (5):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:399824Rare disorder with obstructive azoospermia
rare infertility disorders - ORPHA:400003Rare genetic disorder with obstructive azoospermia
rare genetic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
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Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BICC1 | Candidate gene tested in | Not yet assessed | HGNC:19351 | ENSG00000122870 | 614295 | 10q21.1 | BicC family RNA binding protein 1 | 21922595[PMID] |
| ALG9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15672 | ENSG00000086848 | 606941 | 11q23.1 | ALG9 alpha-1,2-mannosyltransferase | 31395617[PMID] |
| DNAJB11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14889 | ENSG00000090520 | 611341 | 3q27.3 | DnaJ heat shock protein family (Hsp40) member B11 | 29706351[PMID] |
| IFT140 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29077 | ENSG00000187535 | 614620 | 16p13.3 | intraflagellar transport 140 | 34890546[PMID] |
| ALG5 | Disease-causing germline mutation(s) in | Assessed | HGNC:20266 | ENSG00000120697 | 604565 | 13q13.3 | ALG5 dolichyl-phosphate beta-glucosyltransferase | 35896117[PMID] |
| GANAB | Disease-causing germline mutation(s) in | Assessed | HGNC:4138 | ENSG00000089597 | 104160 | 11q12.3 | glucosidase II alpha subunit | 27259053[PMID] |
| NEK8 | Disease-causing germline mutation(s) in | Assessed | HGNC:13387 | ENSG00000160602 | 609799 | 17q11.2 | NIMA related kinase 8 | 37598857[PMID] |
| PKD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9008 | ENSG00000008710 | 601313 | 16p13.3 | polycystin 1, transient receptor potential channel interacting | 20301424[PMID] |
| PKD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9009 | ENSG00000118762 | 173910 | 4q22.1 | polycystin 2, transient receptor potential cation channel | 20301424[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 39.6 / 100 000 | Europe | Value and class | Validated | 27325254[PMID]_European Medicines Agency 2018[OTHER] |
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
26 annotations · validated 2020-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0001407 | Hepatic cysts | |
| HP:0000107 | Renal cyst | |
| HP:0000083 | Renal insufficiency | |
| Frequent (79-30%) | ||
| HP:0012591 | Abnormal urinary electrolyte concentration | |
| HP:0012592 | Albuminuria | |
| HP:0012622 | Chronic kidney disease | |
| HP:0030157 | Flank pain | |
| HP:0000790 | Hematuria | |
| HP:0000822 | Hypertension | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Occasional (29-5%) | ||
| HP:0011004 | Abnormal systemic arterial morphology | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0100702 | Arachnoid cyst | |
| HP:0008672 | Calcium oxalate nephrolithiasis | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0000105 | Enlarged kidney | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001737 | Pancreatic cysts | |
| HP:0006557 | Polycystic liver disease | |
| HP:0012330 | Pyelonephritis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0012207 | Reduced sperm motility | |
| HP:0000791 | Uric acid nephrolithiasis | |
| Very rare (<4-1%) | ||
| HP:0011760 | Pituitary growth hormone cell adenoma | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301424[PMID]_31740684[PMID]_31967058[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730
- This record as JSON: /data/d/730.json