Adrenoleukodystrophy: genes and variants
Adrenoleukodystrophy is linked to 1 analyzed protein (ABCD1). 174 DNA variants are known to cause it; 338 more are uncertain, and 34 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Adrenoleukodystrophy
ABCD1: ATP-binding cassette sub-family D member 1
An ATP-powered transporter that moves very-long-chain fatty-acyl molecules into peroxisomes for processing. It supports fatty-acid breakdown, myelin maintenance, and energy metabolism, and loss of ABCD1 function causes X-linked adrenoleukodystrophy.
174 disease-causing and 338 uncertain variants in ABCD1 are linked to Adrenoleukodystrophy.
Where Adrenoleukodystrophy variants cluster
- ABCD1 Transmembrane (positions 92–112): 10 of 174 disease-causing changes, 2.0× more than its size predicts.
Known disease-causing variants in Adrenoleukodystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCD1 R74W | 74 | PEX19 binding site and required for peroxisomal | Disease-causing (★★) |
| ABCD1 R104H | 104 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R152C | 152 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R152H | 152 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R163H | 163 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 T254M | 254 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 G266R | 266 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 G277W | 277 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 G277R | 277 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 H283Y | 283 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 E291D | 291 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R389C | 389 | Disease-causing (★★) | |
| ABCD1 R401W | 401 | Disease-causing (★★) | |
| ABCD1 R418W | 418 | Disease-causing (★★) | |
| ABCD1 R518Q | 518 | ABC transporter | Disease-causing (★★) |
| ABCD1 P560L | 560 | ABC transporter | Disease-causing (★★) |
| ABCD1 R591W | 591 | ABC transporter | Disease-causing (★★) |
| ABCD1 R617H | 617 | ABC transporter | Disease-causing (★★) |
| ABCD1 R617C | 617 | ABC transporter | Disease-causing (★★) |
| ABCD1 H97R | 97 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 S98L | 98 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R104C | 104 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 A141V | 141 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 N148D | 148 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 N148S | 148 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R163C | 163 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R163G | 163 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 Y174C | 174 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 Y174S | 174 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 G343V | 343 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R389H | 389 | Disease-causing (★★) | |
| ABCD1 R389G | 389 | Disease-causing (★★) | |
| ABCD1 G510D | 510 | ABC transporter | Disease-causing (★★) |
| ABCD1 G512S | 512 | ABC transporter | Disease-causing (★★) |
| ABCD1 R518W | 518 | ABC transporter | Disease-causing (★★) |
| ABCD1 P543L | 543 | ABC transporter | Disease-causing (★★) |
| ABCD1 R591P | 591 | ABC transporter | Disease-causing (★★) |
| ABCD1 G608S | 608 | ABC transporter | Disease-causing (★★) |
| ABCD1 A626T | 626 | ABC transporter | Disease-causing (★★) |
| ABCD1 T632I | 632 | ABC transporter | Disease-causing (★★) |
| ABCD1 P84S | 84 | PEX19 binding site and required for peroxisomal | Disease-causing (★★) |
| ABCD1 S108L | 108 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R152P | 152 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 T198M | 198 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 G298S | 298 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 L493H | 493 | ABC transporter | Disease-causing (★★) |
| ABCD1 G510S | 510 | ABC transporter | Disease-causing (★★) |
| ABCD1 K533Q | 533 | ABC transporter | Disease-causing (★★) |
| ABCD1 P534T | 534 | ABC transporter | Disease-causing (★★) |
| ABCD1 G594S | 594 | ABC transporter | Disease-causing (★★) |
| ABCD1 S606L | 606 | ABC transporter | Disease-causing (★★) |
| ABCD1 S633R | 633 | ABC transporter | Disease-causing (★★) |
| ABCD1 L107P | 107 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 L114P | 114 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 A141T | 141 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 S262W | 262 | ABC transmembrane type-1 | Disease-causing (★★) |
| ABCD1 R401Q | 401 | Disease-causing (★★) | |
| ABCD1 S656F | 656 | ABC transporter | Disease-causing (★★) |
| ABCD1 L516P | 516 | ABC transporter | Disease-causing (★★) |
| ABCD1 Q611H | 611 | ABC transporter | Disease-causing (★★) |
Showing 60 of 174.
Uncertain variants in Adrenoleukodystrophy that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| ABCD1 R660Q | 660 | ABC transporter | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R660L at the same position is pathogenic; seen in 4.7e-06 of gnomAD DNA copies; REVEL 0.954 |
| ABCD1 G608D | 608 | ABC transporter | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; G608A at the same position is pathogenic; seen in 9.2e-07 of gnomAD DNA copies; REVEL 0.953 |
| ABCD1 R189Q | 189 | ABC transmembrane type-1 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R189W at the same position is pathogenic; seen in 3.6e-06 of gnomAD DNA copies; REVEL 0.962 |
| ABCD1 R418Q | 418 | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; R418P at the same position is pathogenic; seen in 2.7e-06 of gnomAD DNA copies; REVEL 0.950 | |
| ABCD1 E292K | 292 | ABC transmembrane type-1 | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; E292D at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.958 |
| ABCD1 G266W | 266 | ABC transmembrane type-1 | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; G266A at the same position is pathogenic; seen in 9.3e-07 of gnomAD DNA copies; REVEL 0.962 |
| ABCD1 S284L | 284 | ABC transmembrane type-1 | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; S284P at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.954 |
| ABCD1 S290L | 290 | ABC transmembrane type-1 | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; S290W at the same position is pathogenic; seen in 6.7e-06 of gnomAD DNA copies; REVEL 0.920 |
| ABCD1 S656P | 656 | ABC transporter | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; S656F at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.946 |
| ABCD1 R554C | 554 | ABC transporter | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R554S at the same position is pathogenic; seen in 9.1e-07 of gnomAD DNA copies; REVEL 0.887 |
| ABCD1 R617L | 617 | ABC transporter | Uncertain (★) | +7: 2 other pathogenic changes within 3 positions; R617H at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.971 |
| ABCD1 P193S | 193 | ABC transmembrane type-1 | Uncertain | +7: 5 other pathogenic changes within 3 positions; P193R at the same position is pathogenic; seen in 8.8e-06 of gnomAD DNA copies; REVEL 0.896 |
| ABCD1 R285S | 285 | ABC transmembrane type-1 | Uncertain (★★) | +7: 5 other pathogenic changes within 3 positions; R285G at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.797 |
| ABCD1 T668P | 668 | ABC transporter | Uncertain (★★) | +7: 3 other pathogenic changes within 3 positions; T668I at the same position is pathogenic; seen in 9.2e-07 of gnomAD DNA copies; REVEL 0.886 |
| ABCD1 S98P | 98 | ABC transmembrane type-1 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; S98L at the same position is pathogenic; seen in 9.4e-07 of gnomAD DNA copies; REVEL 0.897 |
| ABCD1 G512R | 512 | ABC transporter | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; G512S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
| ABCD1 H667Y | 667 | ABC transporter | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; H667D at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
| ABCD1 R617P | 617 | ABC transporter | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R617H at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.97 |
| ABCD1 H283P | 283 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; H283D at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
| ABCD1 S606P | 606 | ABC transporter | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; S606L at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
| ABCD1 E302G | 302 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; E302K at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.97 |
| ABCD1 T254K | 254 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; T254M at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.78 |
| ABCD1 S262L | 262 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; S262W at the same position is pathogenic; REVEL 0.935 |
| ABCD1 R285H | 285 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; R285G at the same position is pathogenic; REVEL 0.909 |
| ABCD1 R285C | 285 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; R285G at the same position is pathogenic; REVEL 0.888 |
| ABCD1 L523P | 523 | ABC transporter | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; L523F at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
| ABCD1 R113C | 113 | ABC transmembrane type-1 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; R113P at the same position is pathogenic; seen in 2.8e-06 of gnomAD DNA copies; REVEL 0.763 |
| ABCD1 Q556H | 556 | ABC transporter | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; Q556R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
| ABCD1 D200E | 200 | ABC transmembrane type-1 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; D200N at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
| ABCD1 P508H | 508 | ABC transporter | Uncertain (★) | +6: 5 other pathogenic changes within 3 positions; P508L at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.96 |
| ABCD1 T416K | 416 | Uncertain (★) | +6: 4 other pathogenic changes within 3 positions; T416R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.95 | |
| ABCD1 T658A | 658 | ABC transporter | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; T658I at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.86 |
| ABCD1 H669Q | 669 | ABC transporter | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; H669R at the same position is pathogenic; seen in 9.2e-07 of gnomAD DNA copies; REVEL 0.677 |
| ABCD1 K533N | 533 | ABC transporter | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; K533Q at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
Which prediction tools work for Adrenoleukodystrophy
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MutPred2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 92 out of 100
- EVE: 91 out of 100
- SIFT: 90 out of 100
- MetaLR: 90 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 87 out of 100
- phyloP: 76 out of 100
Diseases related to Adrenoleukodystrophy
- History of neurodevelopmental disorder, also linked to ABCD1
Frequently asked questions
Which genes are linked to Adrenoleukodystrophy?
In CATVariant, Adrenoleukodystrophy is linked to 1 analyzed protein: ABCD1 (ATP-binding cassette sub-family D member 1).
How many genetic variants are linked to Adrenoleukodystrophy?
610 variants: 174 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 338 are of uncertain significance or have conflicting reports.
Which uncertain variants in Adrenoleukodystrophy look disease-causing?
34 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ABCD1 R660Q, ABCD1 G608D, ABCD1 R189Q, ABCD1 R418Q and ABCD1 E292K. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Adrenoleukodystrophy?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.92, based on 40 disease-causing and 65 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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