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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 |
|---|---|---|---|
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0000252 | Microcephaly |
| HP:0002060 | Abnormal cerebral morphology |
| HP:0000133 | Gonadal dysgenesis |
| HP:0001263 | Global developmental delay |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0000431 | Wide nasal bridge |
| HP:0000054 | Micropenis |
| HP:0001336 | Myoclonus |
