FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: pontocerebellar hypoplasia
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General Information
Name
pontocerebellar hypoplasia
FlyBase ID
FBhh0001448
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of pontocerebellar hypoplasia (PCH). PCH is a genetically heterogeneous disorder, with multiple causative genes and mapped loci; all subtypes exhibit autosomal recessive inheritance. A listing of PCH subtypes, as defined by OMIM, can be found by following the link below in the 'Related Diseases' section. In the table in that section are links to more detailed reports for subtypes that have been investigated using fly models.

[updated Apr. 2022 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: pontocerebellar hypoplasia
OMIM report
Symptoms and phenotype

Multiple subtypes of pontocerebellar hypoplasia have been described. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. [MedlinePlus, Pontocerebellar hypoplasia; 2022.04.16]

(FlyBase Curators, 2013-)

Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in abnormally small cerebellum and brainstem. [from MIM:607596; 2022.04.16]

(OMIM, 2013-)
Genetics

All subtypes of pontocerebellar hypoplasia exhibit autosomal recessive inheritance. [from MIM:PS607596; 2022.04.16]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
PCH
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)