BTD (biotinidase) is named by 1 disorder entry, Biotinidase Deficiency.
ai-gene-review gives BTD's core molecular function as biotinidase activity, acting in biotin metabolic process. Biotinidase releases free biotin from biocytin and biotinyl peptides so that the vitamin can be reused by the biotin-dependent carboxylases.
Biotinidase Deficiency types BTD as causative, with a germline variant origin. The gene sits on the node Impaired biotin recycling. ClinGen rates the relationship definitive.
The KB mechanism and the ai-gene-review core function share biotin metabolic process, so the process the disease entry marks as disrupted is the one the gene review gives as BTD's normal role.
ClinGen also classifies BTD for other diseases (2 in total). The dismech entries matched to those assertions that do not type BTD are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; and Leigh Syndrome; whether BTD belongs in those entries is a question for their curators, not a gap this page can close.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Biotinidase Deficiency |
causative
germline
CLINGEN: definitive
|
mechanism: Impaired biotin recycling
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| biotinidase deficiency MONDO:0009665 | AR | Definitive 2020-02-10 |
Biotinidase Deficiency
causative
|
| Leigh syndrome MONDO:0009723 | AR | Moderate 2021-06-14 |
Leigh Syndrome
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.