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Marinesco-Sjogren syndrome
Summary
- Synonym
-
- Garland-Moorhouse syndrome
- Marinesco-Garland syndrome
- Oligophrenic cerebellolenticular degeneration
- hereditary oligophrenic cerebello-lental degeneration
- Definition
- A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080195
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 2194 | FASN | fatty acid synthase | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 8930 | MBD4 | methyl-CpG binding domain 4, DNA glycosylase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001276 | Hypertonia |
| HP:0001284 | Areflexia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001328 | Specific learning disability |
