ORPHA:309515
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Synonyms: Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | Disorder of glycosphingolipid and GPI-anchored proteins glycosylation |
| fr | Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres glycosylphosphatidylinositol | Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres GPI |
| de | Störung der Glykosylierung der Glykosphingolipide und des Glycosyl-Phosphatidylinositol-Ankers | Glykosylierung-Störung der Glykosphingolipide und GPI-Anker-Proteine |
| es | Trastorno de la glicosilación de glicoesfingolípidos y del anclaje glicosilfosfatidilinositol | Trastornos de la glicosilación de glicoesfingolípidos y del anclaje GPI |
| it | Disturbo della glicosilazione dei glicosfingolipidi e delle proteine ancorate al glicosilfosfatidilinositolo | Disturbo della glicosilazione delle proteine GPI-ancorate e dei glicosfingolipidi |
| nl | Stoornis van glycosfingolipide en glycosylfosfatidylinositolanker-glycosylatie | Stoornis van glycosfingolipide en GPI-verankerde eiwitten-glycosylatie |
| pt | Alteração do glicosfingolipídio e glicosilação da âncora glicosilfosfatidilinositol | |
| pl | Zaburzenia glikozylacji glikosfingolipidów i zakotwiczonego glikozylofosfatydyloinozytolu | Zaburzenia glikozylacji glikosfingolipidów i GPI-zakotwiczonych białek |
| cs | Poruchy glykosylace glykosfingolipidů a zakotvených glykosylfosfatidylinositolů | Poruchy glykosylace glykosfingolipidů a proteinů se zakotvenými GPI |
| uk | Порушення глікофосфінголіпідного та глікозилфосфатидилінозитолового якірного глікозилювання | Порушення глікозилювання глікосфінголіпідів та GPI-анкерованих білків |
| zh | 糖鞘脂和糖基磷脂酰肌醇锚糖基化障碍 | 糖鞘脂和GPI锚糖基化障碍 |
| tr | Glikosfingolipid ve glikosilfosfatidilinositol çapa glikozilasyon bozukluğu | Glikosfingolipid ve GPI bağlantılı proteinlerinin glikozilasyon bozuklukları |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017748 | E | validated | |
| MONDO | 17748 | E | validated | |
| UMLS | C5679954 | 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 (1):
- ORPHA:137Congenital disorder of glycosylation
rare inborn errors of metabolism; rare genetic diseases
Children (11):
- ORPHA:401820Autosomal recessive spastic paraplegia type 67
- ORPHA:3474CHIME syndrome
- ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:397922Ferro-cerebro-cutaneous syndrome
- ORPHA:370933GM3 synthase deficiency
- ORPHA:83639Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- ORPHA:247262Hyperphosphatasia-intellectual disability syndrome
- ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome
- ORPHA:300496Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- ORPHA:447Paroxysmal nocturnal hemoglobinuria
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309515
- This record as JSON: /data/d/309515.json