nephronophthisis
Information
- Disease name
- nephronophthisis
- Disease ID
- DOID:12712
- Description
- "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| NPHP1 | 2 | 110,122,311 | 110,205,042 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01022957 | Completed | N/A | Nephronophthisis : Clinical and Genetic Study | November 2006 | January 2010 |
| NCT04874909 | Recruiting | N/A | Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) | November 8, 2021 | November 2024 |
| NCT05286632 | Recruiting | N/A | KidneYou - Innovative Digital Therapy | July 18, 2022 | June 2024 |
| 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:557
- Cross Reference ID (Disease Ontology)
- GARD:206
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q61.5
- Cross Reference ID (Disease Ontology)
- MIM:PS256100
- Cross Reference ID (Disease Ontology)
- NCI:C123200
- Cross Reference ID (Disease Ontology)
- ORDO:655
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:204958008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0687120
- Exact Synonym (Disease Ontology)
- medullary cystic disease
- Exact Synonym (Disease Ontology)
- medullary cystic kidney
- HPO alt_id (Human Phenotype Ontology)
- HP:0004748
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0000090
- OMIM Phenotype Series Number (OMIM)
- PS256100
- OrphaNumber from OrphaNet (Orphanet)
- 655