FB2026_03 , released September 17, 2026
Human Disease Model Report: Donohue syndrome
Open Close
General Information
Name
Donohue syndrome
FlyBase ID
FBhh0000173
Disease Ontology Term
Parent Disease
OMIM
DONOHUE SYNDROME
Overview

Donohue syndrome is of several diseases associated with defects in the insulin receptor, INSR; it is one of a group of related conditions described as inherited severe insulin resistance syndromes.

Constructs carrying mutations in the fly ortholog of INSR, Dmel\InR, analogous to a human variant implicated in Donohue syndrome have been constructed and made available. Variant(s) implicated in human disease created (as analogous mutation in fly gene): K414P in the fly InR gene (corresponds to R113P in the human INSR gene).

See the human disease model report for insulin resistance syndromes, INSR-related (FBhh0000168) for information on experimental results using Drosophila models of this and related diseases.

[updated Mar. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Donohue syndrome
OMIM report

[DONOHUE SYNDROME](https://omim.org/entry/246200)

Human gene(s) implicated

[INSULIN RECEPTOR; INSR](https://omim.org/entry/147670)

Symptoms and phenotype

Severe insulin resistance underlies the varied signs and symptoms of Donohue syndrome. Individuals with Donohue syndrome are unusually small starting before birth, and affected infants experience failure to thrive. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. Donohue syndrome represents the most severe end of the spectrum; children with this condition do not survive beyond age 2. [from Genetics Home Reference, Donohue syndrome; 2016.02.04]

(FlyBase Curators, 2013-)

See general description of diabetes mellitus, noninsulin-dependent (FBhh0000153).

(FlyBase Curators, 2013-)
Genetics

Donohue syndrome is caused by homozygous or compound heterozygous mutation in the insulin receptor gene (INSR). [from MIM:246200; 2016.02.04]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Leprechaunism
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 (3)