FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
Open Close
General Information
Name
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
FlyBase ID
FBhh0000175
Disease Ontology Term
Parent Disease
OMIM
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
Overview

One of several diseases associated with defects in the insulin receptor, INSR. See the human disease model report for insulin resistance syndromes, INSR-related (FBhh0000168).

[updated Feb. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
OMIM report

[PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES](https://omim.org/entry/262190)

Human gene(s) implicated

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

Symptoms and phenotype

Rabson-Mendenhall syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. People with Rabson-Mendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. Death usually results from complications related to diabetes mellitus. [from Genetics Home Reference, Rabson-Mendenhall syndrome; 2016.02.04]

(FlyBase Curators, 2013-)

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

(FlyBase Curators, 2013-)
Genetics

Rabson-Mendenhall syndrome is caused by compound heterozygous mutation in the insulin receptor gene (INSR). [from MIM:262190; 2016.02.04]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Rabson-Mendenhall syndrome
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)