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biotinidase deficiency
Summary
- Synonym
-
- BTD deficiency
- Juvenile-onset multiple carboxylase deficiency
- Late-onset multiple carboxylase deficiency
- deficiency of biotinidase
- Definition
- 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.
- Super Class
- autosomal recessive disease multiple carboxylase deficiency
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P43251 | Biotinidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8CIF4 | Biotinidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000478 | Abnormality of the eye |
| HP:0000509 | Conjunctivitis |
| HP:0000575 | Scotoma |
| HP:0000648 | Optic atrophy |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000964 | Eczematoid dermatitis |
| HP:0000988 | Skin rash |
| HP:0001138 | Optic neuropathy |
