ORPHA:352306
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
- Type
- Category
- Group
- Group of disorders
- 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 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement | |
| fr | Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante du système nerveux central | |
| de | Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese mit vorwiegender Beteiligung des ZNS | |
| es | Trastorno de la síntesis de fosfolípidos, esfingolípidos y ácidos grasos con afectación predominante del sistema nervioso central | |
| it | Difetto della biosintesi di fosfolipidi, sfingolipidi e acidi grassi con coinvolgimento prevalente del sistema nervoso centrale | |
| nl | Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese met overwegend betrokkenheid van centraal zenuwstelsel | |
| pt | Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos com envolvimento predominante do sistema nervoso central | |
| pl | Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych dotyczące głównie centralnego układu nerwowego | |
| cs | Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin s predominantním poškozením centrálního nervového systému | |
| uk | Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот з переважним залученням центральної нервової системи | |
| zh | 以中枢神经系统受累为主的磷脂、鞘脂和脂肪酸生物合成障碍 | |
| tr | Merkezi sinir sistemi ağırlıklı tutulumu ile seyreden fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18118 | E | validated | |
| UMLS | C5680993 | 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:352301Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
rare inborn errors of metabolism; rare genetic diseases
Children (13):
- ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:139480Autosomal recessive spastic paraplegia type 39
- ORPHA:352333Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration
- ORPHA:370933GM3 synthase deficiency
- ORPHA:352328MEGDEL syndrome
- ORPHA:329303PLA2G6-related neurodegeneration
- ORPHA:157850Pantothenate kinase-associated neurodegeneration
- ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:424027Progressive myoclonic epilepsy type 8
- ORPHA:816Sjögren-Larsson syndrome
- ORPHA:615938Spastic paraparesis-cataracts-speech delay syndrome
- ORPHA:423296Spinocerebellar ataxia type 38
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/352306
- This record as JSON: /data/d/352306.json