Biotin-thiamine-responsive basal ganglia disease
Synonyms: BBGD · BTBGD · Biotin-responsive basal ganglia disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Biotin-thiamine-responsive basal ganglia disease | BBGD · BTBGD · Biotin-responsive basal ganglia disease |
| fr | Maladie des noyaux gris centraux sensible à la biotine et à la thiamine | BBGD · BTBGD · Maladie des ganglions de la base sensible à la biotine · Maladie des ganglions de la base sensible à la biotine et à la thiamine · Maladie des noyaux gris centraux sensible à la biotine |
| de | Biotin-Thiamin-responsive Störung der Basalganglien | BBGD · BTBGD · Biotin-responsive Störung der Basalganglien |
| es | Enfermedad de los ganglios basales sensible a la biotina-tiamina | BTBGD · Enfermedad de los ganglios basales sensible a la biotina · BBGD |
| it | Malattia dei gangli basali sensibile alla biotina-tiamina | BBGD · BTBGD · Malattia dei gangli basali biotina-tiamina-sensibile |
| nl | Biotine-thiamine-responsieve ziekte van basale ganglia | BBGD · BTBGD · Biotine-responsieve ziekte van basale ganglia |
| pt | Doença dos gânglios basais sensível à biotina | |
| pl | Choroba zwojów podstawnych wrażliwa na biotynę | BBGD · BTBGD · Choroba zwojów podstawnych wrażliwa na biotynę-tiaminę |
| cs | Biotin-responzivní onemocnění bazálních ganglií | BBGD · BTBGD · Biotin-thiamin-responzivní onemocnění bazálních ganglií |
| uk | Біотин-тіамінозалежне захворювання базальних гангліїв | BBGD · Біотин-чутливе захворювання базальних гангліїв · BTBGD |
| zh | 生物素-硫铵素反应性基底节病 | 生物素反应性基底节病 |
| tr | Biotin-tiamine duyarlı bazal gangliya hastalığı | BBGD · BTBGD · Biyotine duyarlı bazal gangliya hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607483 | NTBT | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.Y | NTBT | index | validated |
| MONDO | 0011841 | E | validated | |
| MONDO | 11841 | E | validated | |
| MeSH | C537658 | E | validated | |
| UMLS | C1843807 | E | validated | |
| GARD | 10237 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC19A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16266 | ENSG00000135917 | 606152 | 2q36.3 | solute carrier family 19 member 3 | 24260777[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65284
- This record as JSON: /data/d/65284.json