Pulmonary hypertension, neonatal, susceptibility to: genes and variants
Pulmonary hypertension, neonatal, susceptibility to is linked to 1 analyzed protein (CPS1). 29 DNA variants are known to cause it; 27 more are uncertain, and 3 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Pulmonary hypertension, neonatal, susceptibility to
CPS1: Carbamoyl-phosphate synthase [ammonia], mitochondrial
It catalyzes the first committed step of the hepatic urea cycle, incorporating ammonia into carbamoyl phosphate within mitochondria. Biallelic loss-of-function variants cause carbamoyl-phosphate synthetase I deficiency, which can produce life-threatening hyperammonemia.
29 disease-causing and 27 uncertain variants in CPS1 are linked to Pulmonary hypertension, neonatal, susceptibility to.
Known disease-causing variants in Pulmonary hypertension, neonatal, susceptibility to
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CPS1 R587H | 587 | ATP-grasp 1 | Disease-causing (★★) |
| CPS1 R587C | 587 | ATP-grasp 1 | Disease-causing (★★) |
| CPS1 R850H | 850 | Disease-causing (★★) | |
| CPS1 R587L | 587 | ATP-grasp 1 | Disease-causing (★★) |
| CPS1 R803G | 803 | Disease-causing (★★) | |
| CPS1 R850C | 850 | Disease-causing (★★) | |
| CPS1 P265L | 265 | Glutamine amidotransferase type-1 | Disease-causing (★★) |
| CPS1 A438P | 438 | Disease-causing (★★) | |
| CPS1 V457G | 457 | Disease-causing (★★) | |
| CPS1 S913L | 913 | Disease-causing (★★) | |
| CPS1 D914H | 914 | Disease-causing (★★) | |
| CPS1 G987C | 987 | Disease-causing (★★) | |
| CPS1 R1453Q | 1453 | MGS-like | Disease-causing (★★) |
| CPS1 T544M | 544 | Disease-causing (★★) | |
| CPS1 Y959C | 959 | Disease-causing (★★) | |
| CPS1 S1203P | 1203 | ATP-grasp 2 | Disease-causing (★★) |
| CPS1 R1453W | 1453 | MGS-like | Disease-causing (★★) |
| CPS1 R814W | 814 | Disease-causing (★★) | |
| CPS1 V1187F | 1187 | ATP-grasp 2 | Disease-causing (★★) |
| CPS1 G301E | 301 | Glutamine amidotransferase type-1 | Disease-causing (★★) |
| CPS1 N716K | 716 | ATP-grasp 1 | Disease-causing (★★) |
| CPS1 R780H | 780 | Disease-causing (★★) | |
| CPS1 K280N | 280 | Glutamine amidotransferase type-1 | Disease-causing (★★) |
| CPS1 P382L | 382 | Glutamine amidotransferase type-1 | Disease-causing (★★) |
| CPS1 R803H | 803 | Disease-causing (★) | |
| CPS1 G79E | 79 | Anthranilate phosphoribosyltransferase homolog | Disease-causing (★) |
| CPS1 R174W | 174 | Anthranilate phosphoribosyltransferase homolog | Disease-causing (★) |
| CPS1 S918P | 918 | Disease-causing (★) | |
| CPS1 A1378T | 1378 | MGS-like | Disease-causing (★) |
Uncertain variants in Pulmonary hypertension, neonatal, susceptibility to that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| CPS1 S1203L | 1203 | ATP-grasp 2 | Conflicting reports (★) | +7: S1203P at the same position is pathogenic; seen in 6.8e-06 of gnomAD DNA copies; REVEL 0.966 |
| CPS1 R803C | 803 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R803H at the same position is pathogenic; REVEL 0.942 | |
| CPS1 R803S | 803 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R803H at the same position is pathogenic; REVEL 0.930 |
Which prediction tools work for Pulmonary hypertension, neonatal, susceptibility to
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 95 out of 100
- CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 89 out of 100
- phyloP: 71 out of 100
Diseases related to Pulmonary hypertension, neonatal, susceptibility to
- Hereditary breast ovarian cancer syndrome, also linked to CPS1
Frequently asked questions
Which genes are linked to Pulmonary hypertension, neonatal, susceptibility to?
In CATVariant, Pulmonary hypertension, neonatal, susceptibility to is linked to 1 analyzed protein: CPS1 (Carbamoyl-phosphate synthase [ammonia], mitochondrial).
How many genetic variants are linked to Pulmonary hypertension, neonatal, susceptibility to?
59 variants: 29 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 27 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pulmonary hypertension, neonatal, susceptibility to look disease-causing?
3 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example CPS1 S1203L, CPS1 R803C and CPS1 R803S. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Pulmonary hypertension, neonatal, susceptibility to?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.95, based on 28 disease-causing and 41 harmless variants).
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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