ORPHA:79241
Biotinidase deficiency
Synonyms: Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Biotinidase deficiency | Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency |
| fr | Déficit en biotinidase | Déficit multiple en carboxylases par déficit en biotinidase · Déficit multiple en carboxylases à début tardif |
| de | Biotinidase-Mangel | BTD-Mangel · Multipler Carboxylase-Mangel, juveniler · Multipler Carboxylase-Mangel, spät-einsetzender |
| es | Deficiencia de biotinidasa | Deficiencia múltiple de carboxilasas de inicio juvenil · Deficiencia múltiple de carboxilasas de inicio tardío |
| it | Deficit di biotinidasi | Deficit di BTD · Deficit multiplo di carbossilasi a esordio giovanile · Deficit multiplo di carbossilasi a esordio tardivo |
| nl | Biotinidasedeficiëntie | Multipele carboxylasedeficiëntie met juveniele aanvang · Multipele carboxylasedeficiëntie met late aanvang |
| pt | Deficiência de biotinidase | |
| pl | Niedobór biotynidazy | Młodzieńczy złożony Niedobór karboksylazy · Niedobór BTD · Złożony Niedobór karboksylazy o późnym początku |
| cs | Deficit biotinidázy | Deficit BTD · Mnohočetný karboxylázový deficit s juvenilním začátkem · Mnohočetný karboxylázový deficit s pozdním začátkem |
| uk | Дефіцит біотинідази | Ювенільний дефіцит множинної карбоксилази · Пізній дефіцит множинної карбоксилази |
| zh | 生物素酶缺陷症 | 幼年型多发性羧化酶缺乏 |
| tr | Biyotinidaz eksikliği | BTD eksikliği · Geç başlangıçlı çoklu karboksilaz eksikliği · jüvenil başlangıçlı çoklu karboksilaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253260 | E | validated | |
| ICD-10 | E53.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009665 | E | validated | |
| MeSH | D028921 | E | validated | |
| UMLS | C0220754 | E | validated | |
| GARD | 894 | E | validated | |
| MedDRA | 10071434 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BTD | Disease-causing germline mutation(s) in | Assessed | HGNC:1122 | ENSG00000169814 | 609019 | 3p25.1 | biotinidase | 20301497[PMID] |
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Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Worldwide | Value and class | Not yet validated | 1779651[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | 1779651[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | United States | Value and class | Validated | 2314964[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Brazil | Value and class | Validated | 9713119[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.6 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Sweden | Value and class | Validated | 20224900[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Italy | Value and class | Validated | 11953730[PMID]_3391228[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Italy | Class only | Validated | 11953730[PMID]_3391228[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Austria | Value and class | Validated | 11388594[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Hungary | Value and class | Validated | 17185019[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Turkey | Value and class | Validated | 20333870[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0069 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.58 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
38 annotations · validated 2021-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0410145 | Decreased biotinidase activity | |
| HP:0005979 | Metabolic ketoacidosis | |
| HP:0001992 | Organic aciduria | |
| Frequent (79-30%) | ||
| HP:0002715 | Abnormality of the immune system | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0001987 | Hyperammonemia | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000988 | Skin rash | |
| Occasional (29-5%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001596 | Alopecia | |
| HP:0002104 | Apnea | |
| HP:0001251 | Ataxia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000509 | Conjunctivitis | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0011153 | Focal motor seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002883 | Hyperventilation | |
| HP:0012469 | Infantile spasms | |
| HP:0001249 | Intellectual disability | |
| HP:0006511 | Laryngeal stridor | |
| HP:0001254 | Lethargy | |
| HP:0003690 | Limb muscle weakness | |
| HP:0002196 | Myelopathy | |
| HP:0200068 | Nonprogressive visual loss | |
| HP:0000648 | Optic atrophy | |
| HP:0001138 | Optic neuropathy | |
| HP:0005401 | Recurrent candida infections | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0002098 | Respiratory distress | |
| HP:0000575 | Scotoma | |
| HP:0002313 | Spastic paraparesis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30746739[PMID]_20301497[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79241
- This record as JSON: /data/d/79241.json