FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: spastic paraplegia 43
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General Information
Name
spastic paraplegia 43
FlyBase ID
FBhh0000247
Disease Ontology Term
Parent Disease
OMIM
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43
Overview

This report describes spastic paraplegia 43 (SPG43), which is a subtype of spastic paraplegia. The human gene implicated in this disease is C19orf12, which is also implicated in a form of neurodegeneration with brain iron accumulation. See the report for neurodegenerative disease, C19orf12-related (FBhh0000244) for descriptions of experiments done in flies using orthologs of the human C19orf12 gene.

[updated Apr. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spastic paraplegia
Symptoms and phenotype

The hereditary spastic paraplegias (SPG, HSP) are a large group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'). [from MIM:182600; 15.06.29]

(OMIM, 2013-)
Specific Disease Summary: spastic paraplegia 43
OMIM report

[SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43](https://omim.org/entry/615043)

Human gene(s) implicated

[CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12](https://omim.org/entry/614297)

Symptoms and phenotype

Some individuals with mutations associated with C19orf12 have movement problems such as muscle stiffness (spasticity) but no detectable iron accumulation in the brain; these individuals are considered to have a form spastic paraplegia, SPG43. (Genetics Home Reference, C19orf12; 2016.04.11)

(FlyBase Curators, 2013-)

Spastic paraplegia 43 (SPG43) is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (Meilleur et al., 2010; pubmed:20039086). [from MIM:615043; 2016.04.07]

(OMIM, 2013-)
Genetics

Spastic paraplegia 43 (SPG43) is caused by homozygous mutation in the C19orf12 gene. [from MIM:615043; 2016.04.07]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
spastic paraplegia 43, autosomal recessive
SPG43
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
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (3)