Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
pontocerebellar hypoplasia type 7
Summary
- Definition
- A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
- Super Class
- pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0060276
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 6383 | SDC2 | syndecan 2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000151 | Aplasia of the uterus |
| HP:0001276 | Hypertonia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000582 | Upslanted palpebral fissure |
