androgen insensitivity syndrome
Findings
No curated finding names androgen insensitivity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).
Definition from the Mondo Disease Ontology (MONDO:0019154), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGNC:644
- Definitive · Ambry Genetics · X-linked · 2023
- Definitive · G2P · X-linked · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
- Strong · Laboratory for Molecular Medicine · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025
- DAAM2HGNC:18143
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: androgen insensitivity syndrome
- Also called
- androgen insensitivity, X-linked recessiveandrogen resistance syndromeGoldberg-Maxwell syndromeMorris syndrometesticular feminization syndrome