autosomal recessive polycystic kidney disease
Information
- Disease name
- autosomal recessive polycystic kidney disease
- Disease ID
- DOID:0110861
- Description
- "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion." [url:https\://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06147414 | Not yet recruiting | Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders | April 2024 | December 2026 | |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 | |
| NCT01401998 | Unknown status | UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource | June 2011 | December 2022 |
- Disase is a (Disease Ontology)
- DOID:0080322
- Cross Reference ID (Disease Ontology)
- GARD:8378
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q61.1
- Cross Reference ID (Disease Ontology)
- ICD9CM:753.14
- Cross Reference ID (Disease Ontology)
- MESH:D017044
- Cross Reference ID (Disease Ontology)
- MIM:263200
- Cross Reference ID (Disease Ontology)
- NCI:C84579
- Cross Reference ID (Disease Ontology)
- ORDO:731
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:28770003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085548
- Exact Synonym (Disease Ontology)
- Arpkd
- Exact Synonym (Disease Ontology)
- Pkhd1
- Exact Synonym (Disease Ontology)
- Polycystic Kidney and Hepatic Disease 1
- Exact Synonym (Disease Ontology)
- Polycystic Kidney Disease, Infantile, Type I
- OrphaNumber from OrphaNet (Orphanet)
- 731
- MedGen concept unique identifier (MedGen Concept name)
- C0085548
- MedGen unique identifier (MedGen Concept name)
- 39076