This page contains affiliate links. We may earn a commission if you purchase through them, at no extra cost to you.
Is Hirschsprung Disease Genetic?
- Heritability
- ~80%
- Inheritance
- polygenic
- Key genes
- RET EDNRB GDNF
CircleDNA's Premium Test covers 500+ health and ancestry reports. Explore your DNA →
Congenital absence of ganglia in the colon. Heritability varies by segment length. RET mutations are present in ~50% of familial cases.
How Genetic Is Hirschsprung Disease?
Hirschsprung Disease involves complex interactions between multiple genes and environmental factors. Heritability estimates range up to 80%, though no single gene determines outcome on its own.
Key genes associated with Hirschsprung Disease: RET EDNRB GDNF. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Hirschsprung Disease?
Family history can be informative for Hirschsprung Disease, but its predictive power is limited because many genes — each with small effects — combine with environmental influences. A family history of the condition may prompt earlier or more frequent screening.
The world's most comprehensive at-home DNA test — 500+ reports covering diet, fitness, cancer risk, disease risk, and family planning.
Discover your genetic profile →