FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: amyotrophic lateral sclerosis 11
Open Close
General Information
Name
amyotrophic lateral sclerosis 11
FlyBase ID
FBhh0000335
Overview

This report describes amyotrophic lateral sclerosis 11 (ALS11), which is a subtype of amyotrophic lateral sclerosis. It is one of several diseases associated with the human gene FIG4. See the human disease model report for neurodegenerative disease, FIG4-related (FBhh0000336).

Variant(s) implicated in human disease tested (as analogous mutation in fly gene): E58Y in the fly FIG4 gene (corresponds to D53Y in the human FIG4 gene), implicated in ALS11; I46T in the fly FIG4 gene (corresponds to I41T in the human FIG4 gene), implicated in ALS11 and CMT4J.

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: amyotrophic lateral sclerosis
Symptoms and phenotype

Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996, pubmed:8875253). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. [from MIM:105400, 2015.02.11]

Specific Disease Summary: amyotrophic lateral sclerosis 11
OMIM report

[AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11](https://omim.org/entry/612577)

Human gene(s) implicated

[FIG4 PHOSPHOINOSITIDE 5-PHOSPHATASE; FIG4](https://omim.org/entry/609390)

Symptoms and phenotype

See general description of amyotrophic lateral sclerosis, above.

Genetics

ALS11 is an autosomal dominant form of ALS caused by mutation in the FIG4 gene [from MIM:612577; 2016.06.22]

Cellular phenotype and pathology
Molecular information

FIG4 Phosphoinositide 5-Phosphatase (FIG4) encodes a protein in the SAC domain-containing protein family; the SAC domain incorporates the phosphoinositide phosphatase activity. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. [from Gene Cards, FIG4; 2016.06.22]

External links
Disease synonyms
ALS11
amyotrophic lateral sclerosis type 11
motor neurone disease
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      Ortholog of human FIG4 (1 Drosophila to 1 human). Dmel\FIG4 shares 41% identity and 58% similarity with the human gene.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (4 alleles)
        Models Based on Experimental Evidence ( 4 )
        Modifiers Based on Experimental Evidence ( 1 )
        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
        amorphic allele - molecular evidence
        CRISPR/Cas9
        amorphic allele - genetic evidence
        P-element activity
        References (7)