FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: microcephalic primordial dwarfism
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General Information
Name
microcephalic primordial dwarfism
FlyBase ID
FBhh0000898
Disease Ontology Term
Parent Disease
OMIM
Overview

Microcephalic primordial dwarfism (MPD) is a collective term for a group of human disorders characterised by intrauterine and postnatal growth delay and marked microcephaly. Mutations in genes encoding proteins involved in DNA replication or genome stability are a frequent cause of microcephalic dwarfism. Most disorders characterized by microcephalic primordial dwarfism exhibit autosomal recessive inheritance.

Models in Drosophila pertaining to microcephalic primordial dwarfism include Meier-Gorlin syndrome 3 (FBhh0000900) and microcephalic dwarfism syndromes, DONSON-related (FBhh0000902).

[updated Sep. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: microcephalic primordial dwarfism
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Microcephalic primordial dwarfism (MPD) is the collective term for a group of human disorders characterised by intrauterine and postnatal growth delay alongside marked microcephaly, and includes disorders such as MOPD II, ATR/ATRIP-Seckel syndrome and Meier-Gorlin syndrome (Reynolds, et al., 2017; pubmed:28191891).

(FlyBase Curators, 2013-)
Genetics

Disorders characterized by microcephalic primordial dwarfism usually exhibit autosomal recessive inheritance.

(FlyBase Curators, 2013-)

Mutations in genes encoding either components of the DNA replication machinery (replisome) or genome stability proteins are a frequent cause of microcephalic dwarfism (Reynolds, et al., 2017; pubmed:28191891).

(FlyBase Curators, 2013-)
Cellular phenotype and pathology
Molecular information
External links
    Disease synonyms
    microcephalic dwarfism
    MPD
    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
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          Publicly Available Stocks
          References (2)