ORPHA:401854
Lipoic acid biosynthesis defect
Synonyms: Lipoate biosynthesis defect
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Neonatal
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipoic acid biosynthesis defect | Lipoate biosynthesis defect |
| fr | Défaut de biosynthèse de l'acide lipoïque | Défaut de biosynthèse du lipoate |
| de | Liponsäure-Biosynthese-Defekt | |
| es | Defecto de la biosíntesis de ácido lipoico | Defecto de la biosíntesis de lipoato |
| it | Difetto della biosintesi dell'acido lipoico | Difetto della biosintesi del lipoato |
| nl | Defect van liponzuurbiosynthese | Defect van lipoaatbiosynthese |
| pt | Defeito de biossíntese de ácido lipóico | |
| pl | Defekt biosyntezy kwasu liponowego | Defekt biosyntezy liponianu |
| cs | Poruchy biosyntézy kyseliny lipoové | Porucha biosyntézy lipoátu |
| uk | Дефект біосинтезу ліпоєвої кислоти | Дефект біосинтезу ліпоатів |
| zh | 硫辛酸生物合成缺陷 | 磷脂生物合成缺陷 |
| tr | Lipoik asit biyosentez defekti | Lipoat biyosentez defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018424 | E | validated | |
| MONDO | 18424 | E | validated | |
| UMLS | C5680006 | E | validated | |
| GARD | 12679 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:68380Mitochondrial disease
rare inborn errors of metabolism; rare genetic diseases
Children (7):
- ORPHA:401866Childhood-onset spasticity with hyperglycinemia
- ORPHA:401859Lipoic acid synthetase deficiency
- ORPHA:401862Lipoyl transferase 1 deficiency
- ORPHA:447795Lipoyl transferase 2 deficiency
- ORPHA:508093MEPAN syndrome
- ORPHA:289573Multiple mitochondrial dysfunctions syndrome
- ORPHA:2394Pyruvate dehydrogenase E3 deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401854
- This record as JSON: /data/d/401854.json