# Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems

**Authors:** Anne Gregor, Christiane Zweier

PMC · DOI: 10.1515/medgen-2024-2020 · 2024-06-06

## TL;DR

This review discusses various model organisms and systems used to study syndromic diseases, their advantages, and limitations.

## Contribution

The paper provides a comprehensive overview of modeling approaches for syndromic diseases across multiple systems.

## Key findings

- Different model organisms offer unique insights into disease pathomechanisms and variant effects.
- Each system has specific advantages and limitations for studying syndromic disorders.
- Human cell-based systems complement traditional model organisms in disease modeling.

## Abstract

In this review we describe different model organisms and systems that are commonly used to study syndromic disorders. Different use cases in modeling diseases, underlying pathomechanisms and specific effects of certain variants are elucidated. We also highlight advantages and limitations of different systems. Models discussed include budding yeast, the nematode worm, the fruit fly, the frog, zebrafish, mice and human cell-based systems.

## Linked entities

- **Species:** Danio rerio (taxon 7955), Mus musculus (taxon 10090), Homo sapiens (taxon 9606)

## Full-text entities

- **Diseases:** syndromic diseases (MESH:D004194), syndromic disorders (MESH:D030342)
- **Species:** Drosophila melanogaster (fruit fly, species) [taxon 7227], Mus musculus (house mouse, species) [taxon 10090], Homo sapiens (human, species) [taxon 9606], Saccharomyces cerevisiae (baker's yeast, species) [taxon 4932], Danio rerio (leopard danio, species) [taxon 7955]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11154186/full.md

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Source: https://tomesphere.com/paper/PMC11154186