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
Displaying entries 1 - 10 of 26 in total
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
9562 MINPP1 multiple inositol-polyphosphate phosphatase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024