biotinidase deficiency
Information
- Disease name
- biotinidase deficiency
- Disease ID
- DOID:856
- Description
- "A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25." [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03269045 | Completed | Phase 1/Phase 2 | Study of ORL-1B in Patients With Biotinidase Deficiency | August 31, 2013 | January 1, 2018 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT05910151 | Recruiting | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan | October 3, 2022 | December 31, 2024 |
- Disase is a (Disease Ontology)
- DOID:857
- Cross Reference ID (Disease Ontology)
- GARD:894
- Cross Reference ID (Disease Ontology)
- ICD10CM:D81.810
- Cross Reference ID (Disease Ontology)
- MESH:D028921
- Cross Reference ID (Disease Ontology)
- MIM:253260
- Cross Reference ID (Disease Ontology)
- NCI:C84598
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:8808004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220754
- Exact Synonym (Disease Ontology)
- BTD deficiency
- Exact Synonym (Disease Ontology)
- deficiency of biotinidase
- Exact Synonym (Disease Ontology)
- Juvenile-onset multiple carboxylase deficiency
- Exact Synonym (Disease Ontology)
- Late-onset multiple carboxylase deficiency
- OrphaNumber from OrphaNet (Orphanet)
- 79241
- MeSH unique ID (MeSH (Medical Subject Headings))
- D028921