Hypertrichotic osteochondrodysplasia Cantu type: genes and variants
Hypertrichotic osteochondrodysplasia Cantu type is linked to 1 analyzed protein (ABCC9). 15 DNA variants are known to cause it; 39 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Hypertrichotic osteochondrodysplasia, Cantu type
Genes linked to Hypertrichotic osteochondrodysplasia Cantu type
ABCC9: ATP-binding cassette sub-family C member 9
A regulatory subunit of ATP-sensitive potassium (KATP) channels, partnering with KCNJ11 or KCNJ8 to control channel activation. It is a multi-pass membrane protein with important roles in cardiac and smooth-muscle excitability, and altered ABCC9 function is associated with cardiomyopathy, atrial fibrillation, and neurodevelopmental syndromes.
15 disease-causing and 39 uncertain variants in ABCC9 are linked to Hypertrichotic osteochondrodysplasia Cantu type.
Where Hypertrichotic osteochondrodysplasia Cantu type variants cluster
- ABCC9 ABC transmembrane type-1 2 (positions 994–1274): 8 of 15 disease-causing changes, 2.9× more than its size predicts.
Known disease-causing variants in Hypertrichotic osteochondrodysplasia Cantu type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCC9 R1116C | 1116 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC9 R1116H | 1116 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC9 G989E | 989 | Cytoplasmic | Disease-causing (★★) |
| ABCC9 R1154Q | 1154 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC9 F293S | 293 | Cytoplasmic | Disease-causing (★) |
| ABCC9 P568L | 568 | ABC transmembrane type-1 1 | Disease-causing (★) |
| ABCC9 Y985S | 985 | Cytoplasmic | Disease-causing (★) |
| ABCC9 A1064P | 1064 | ABC transmembrane type-1 2 | Disease-causing (★) |
| ABCC9 L1068P | 1068 | ABC transmembrane type-1 2 | Disease-causing (★) |
| ABCC9 R1217K | 1217 | ABC transmembrane type-1 2 | Disease-causing (★) |
| ABCC9 L1459F | 1459 | ABC transporter 2 | Disease-causing (★) |
| ABCC9 R1347C | 1347 | ABC transporter 2 | Disease-causing |
| ABCC9 H60Y | 60 | Cytoplasmic | Disease-causing |
| ABCC9 S1020P | 1020 | ABC transmembrane type-1 2 | Disease-causing |
| ABCC9 C1043Y | 1043 | ABC transmembrane type-1 2 | Disease-causing |
Same protein, different disease
- Dilated cardiomyopathy is also caused by ABCC9 variants; they fall mostly in different places as the Hypertrichotic osteochondrodysplasia Cantu type variants (5 disease-causing).
Diseases related to Hypertrichotic osteochondrodysplasia Cantu type
- Dilated cardiomyopathy, also linked to ABCC9
- Atrial fibrillation, familial, 10, also linked to ABCC9
- Familial isolated dilated cardiomyopathy, also linked to ABCC9
Frequently asked questions
Which genes are linked to Hypertrichotic osteochondrodysplasia Cantu type?
In CATVariant, Hypertrichotic osteochondrodysplasia Cantu type is linked to 1 analyzed protein: ABCC9 (ATP-binding cassette sub-family C member 9).
How many genetic variants are linked to Hypertrichotic osteochondrodysplasia Cantu type?
62 variants: 15 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 39 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypertrichotic osteochondrodysplasia Cantu type 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.
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