Pancreatic hypoplasia-diabetes-congenital heart disease syndrome: genes and variants
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is linked to 2 analyzed proteins (GATA6 and ACADVL). 8 DNA variants are known to cause it; 8 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 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GATA6: Transcription factor GATA-6
It regulates developmental programs in the pancreas, heart, gut, and other endoderm-derived tissues. Haploinsufficiency is a major cause of pancreatic agenesis and neonatal diabetes and can also produce congenital heart disease and other developmental abnormalities.
7 disease-causing and 8 uncertain variants in GATA6 are linked to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome.
ACADVL: Very long-chain acyl-CoA dehydrogenase, mitochondrial
It catalyzes the first dehydrogenation step in mitochondrial beta-oxidation of long-chain fatty acids, especially during fasting and sustained energy demand. Biallelic loss of function causes very-long-chain acyl-CoA dehydrogenase deficiency, ranging from severe cardiomyopathy to exercise-induced rhabdomyolysis.
1 disease-causing and 0 uncertain variants in ACADVL are linked to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome.
Where Pancreatic hypoplasia-diabetes-congenital heart disease syndrome variants cluster
- GATA6 GATA-type 2 (positions 444–468): 6 of 7 disease-causing changes, 20.4× more than its size predicts.
Known disease-causing variants in Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA6 R456C | 456 | GATA-type 2 | Disease-causing (★★) |
| GATA6 R456H | 456 | GATA-type 2 | Disease-causing (★★) |
| ACADVL S21N | 21 | Disease-causing (★★) | |
| GATA6 R456L | 456 | GATA-type 2 | Disease-causing (★) |
| GATA6 T453N | 453 | GATA-type 2 | Disease-causing (★) |
| GATA6 S294R | 294 | Disease-causing (★) | |
| GATA6 T452A | 452 | GATA-type 2 | Disease-causing |
| GATA6 N466D | 466 | GATA-type 2 | Disease-causing |
Same protein, different disease
- Very long chain acyl-CoA dehydrogenase deficiency is also caused by ACADVL variants; they fall mostly in different places as the Pancreatic hypoplasia-diabetes-congenital heart disease syndrome variants (149 disease-causing).
Diseases related to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Monogenic diabetes, also linked to GATA6
- Very long chain acyl-CoA dehydrogenase deficiency, also linked to ACADVL
- Atrial septal defect, also linked to GATA6
- Atrioventricular septal defect 4, also linked to GATA6
Frequently asked questions
Which genes are linked to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome?
In CATVariant, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is linked to 2 analyzed proteins: GATA6 (Transcription factor GATA-6) and ACADVL (Very long-chain acyl-CoA dehydrogenase, mitochondrial).
How many genetic variants are linked to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome?
27 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pancreatic hypoplasia-diabetes-congenital heart disease 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.
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