ORPHA:207113
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Synonyms: Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy
- 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 | Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy |
| fr | Anomalie qualitative ou quantitative de protéines impliquées dans la O-glycosylation de l'alpha-dystroglycane | Alpha-dystroglycanopathie secondaire · Dystroglycanopathie secondaire |
| de | Proteine der O-Glykosylierung des alpha-Dystroglycan, qualitative oder quantitative Defekte | Alpha-Dystroglykanopathie, sekundäre · Dystroglykanopathie, sekundäre |
| es | Defectos cualitativos o cuantitativos de proteínas implicados en la O-glicosilación del alfa-distroglicano | Alfa-distroglicanopatía secundaria · Distroglicanopatía secundaria |
| it | Difetti qualitativi o quantitativi della proteina coinvolta nell'O-glicosilazione dell'alfa-distroglicano | Alfa-distroglicanopatia secondaria · Distroglicanopatia secondaria |
| nl | Kwalitatieve of kwantitatieve defecten van proteïne betrokken bij O-glycosylatie van alfa-dystroglycaan | Secundaire alfa-dystroglycanopathie · Secundaire dystroglycanopathie |
| pt | Deficiências qualitativas ou quantitativas da proteína envolvida na O-glicosilação do alfa-distroglicano | |
| pl | Defekty jakościowe lub ilościowe białka zaangażowanego w O-glikozylację alfa-dystrofiny | Alfa-dystroglikanopatia wtórna · Dystroglikanopatia wtórna |
| cs | Kvalitativní nebo kvantitativní defekty proteinu zapojeného v O-glykosylaci alfa-dystroglykanu | Sekundární alfa-dystroglykanopatie · Sekundární dystroglykanopatie |
| uk | Якісні або кількісні дефекти білка, що беруть участь в О-глікозилюванні альфа-дистроглікану | Вторинна альфа-дистрогліанопатія · Вторинна дистрогліканопатія |
| zh | 与α-肌营养不良聚糖O-糖基化有关的蛋白质的定性或定量缺陷 | 继发性α-肌营养不良蛋白聚糖病 |
| tr | Alfa-distroglikanın O-glikozilasyonunda rol oynayan kalitatif veya kantitatif protein defektleri | Sekonder distroglikanopati · Sekonder alfa-distroglikanopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016155 | E | validated | |
| MONDO | 16155 | E | validated | |
| UMLS | C5679795 | 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:371024Qualitative or quantitative defects of alpha-dystroglycan
rare genetic diseases
Children (9):
- ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:445110Limb-girdle muscular dystrophy due to POMK deficiency
- ORPHA:565899POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:207119Qualitative or quantitative defects of FKRP
- ORPHA:207122Qualitative or quantitative defects of fukutin
- ORPHA:209024Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
- ORPHA:209030Qualitative or quantitative defects of protein O-mannosyltransferase 1
- ORPHA:209033Qualitative or quantitative defects of protein O-mannosyltransferase 2
- ORPHA:209027Qualitative or quantitative defects of protein glycosyltransferase-like
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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/207113
- This record as JSON: /data/d/207113.json