Fanconi syndrome
Information
- Disease name
- Fanconi syndrome
- Disease ID
- DOID:1062
- Description
- "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting." [url:http\://en.wikipedia.org/wiki/Fanconi_syndrome, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000333.htm]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ATP6V1B1 | 2 | 70,935,900 | 70,965,431 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00004350 | Completed | Evaluation of Fanconi Syndrome and Cystinosis | October 1999 | ||
| NCT00061763 | Completed | Phase 2 | Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias | May 2003 | |
| NCT00499187 | Completed | Fanconi Syndrome Due to ARVs in HIV-Infected Persons | September 2007 | March 2011 | |
| NCT05903365 | Not yet recruiting | Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease | June 2023 | March 2028 |
- Disase is a (Disease Ontology)
- DOID:447
- Cross Reference ID (Disease Ontology)
- GARD:9118
- Cross Reference ID (Disease Ontology)
- MESH:D005198
- Cross Reference ID (Disease Ontology)
- MIM:PS134600
- Cross Reference ID (Disease Ontology)
- NCI:C3034
- Cross Reference ID (Disease Ontology)
- NCI:C4377
- Cross Reference ID (Disease Ontology)
- ORDO:3337
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:236468006
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:40488004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0015624
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0341703
- Exact Synonym (Disease Ontology)
- adult Fanconi Anemia
- Exact Synonym (Disease Ontology)
- adult Fanconi syndrome
- Exact Synonym (Disease Ontology)
- Congenital Fanconi syndrome
- Exact Synonym (Disease Ontology)
- De Toni-Fanconi syndrome
- Exact Synonym (Disease Ontology)
- deToni Fanconi syndrome
- Exact Synonym (Disease Ontology)
- Fanconi-de Toni syndrome
- Exact Synonym (Disease Ontology)
- Fanconi-de-Toni syndrome
- Exact Synonym (Disease Ontology)
- Infantile nephropathic cystinosis
- Exact Synonym (Disease Ontology)
- Lignac-Fanconi syndrome
- MeSH unique ID (MeSH (Medical Subject Headings))
- D005198