Hajdu-Cheney syndrome: genes and variants
Hajdu-Cheney syndrome is linked to 1 analyzed protein (NOTCH2). 1 DNA variants are known to cause it; 789 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hajdu-Cheney syndrome
NOTCH2: Neurogenic locus notch homolog protein 2
It directs cell-fate decisions in developing and adult tissues through ligand-triggered transcriptional signaling. Pathogenic variants cause Alagille syndrome type 2 or Hajdu-Cheney syndrome depending on the molecular mechanism, and somatic alterations occur in several malignancies.
1 disease-causing and 789 uncertain variants in NOTCH2 are linked to Hajdu-Cheney syndrome.
Known disease-causing variants in Hajdu-Cheney syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NOTCH2 D437A | 437 | EGF-like 11 | Disease-causing (★) |
Same protein, different disease
- Alagille syndrome due to a NOTCH2 point mutation is also caused by NOTCH2 variants; they fall mostly in different places as the Hajdu-Cheney syndrome variants (6 disease-causing).
Diseases related to Hajdu-Cheney syndrome
- Alagille syndrome due to a NOTCH2 point mutation, also linked to NOTCH2
Frequently asked questions
Which genes are linked to Hajdu-Cheney syndrome?
In CATVariant, Hajdu-Cheney syndrome is linked to 1 analyzed protein: NOTCH2 (Neurogenic locus notch homolog protein 2).
How many genetic variants are linked to Hajdu-Cheney syndrome?
818 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 789 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hajdu-Cheney syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center