HPDL Chromosome 1
4-hydroxyphenylpyruvate dioxygenase like
Upload your DNA to see your personal genotypes for variants in HPDL.
What This Gene Does
The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Glyoxalase domain containing
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000186603
Associated Conditions (7)
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
HPDL-related disorder
Spastic paraplegia
Inborn genetic diseases
Spastic ataxia
Spastic paraplegia 83
autosomal recessive
Key Variants
RS199632752
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, HPDL-related disorder, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS368625962
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS567130416
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
Health Risk
RS774562729
Conflicting classifications of pathogenicity
Spastic ataxia, Inborn genetic diseases, Spastic ataxia
Health Risk
RS116004018
Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Spastic paraplegia
Health Risk
RS1167901073
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1186696459
Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS1297494568
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1360472871
Likely pathogenic
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS1373645311
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1373689003
Likely pathogenic
Health Risk
RS1446895238
Likely pathogenic
Spastic paraplegia, Spastic paraplegia
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199632752 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, HPDL-related disorder, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS368625962 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS567130416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases |
| RS774562729 | Health Risk | Conflicting classifications of pathogenicity | Spastic ataxia, Inborn genetic diseases, Spastic ataxia |
| RS116004018 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Spastic paraplegia |
| RS1167901073 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1186696459 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1297494568 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1360472871 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1373645311 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1373689003 | Health Risk | Likely pathogenic | — |
| RS1446895238 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS145372387 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1644248738 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1644253428 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1644265859 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS2149081821 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2149081832 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2149081995 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2149082096 | Health Risk | Likely pathogenic | Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia |
| RS2149082406 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS745594303 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS753383257 | Health Risk | Likely pathogenic | — |
| RS756300449 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS758727749 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS776308503 | Health Risk | Likely pathogenic | — |
| RS776909228 | Health Risk | Likely pathogenic | — |
| RS1391712320 | Health Risk | Pathogenic | Spastic paraplegia 83, autosomal recessive, Spastic paraplegia |
| RS1557438186 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1644248782 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1644253602 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1644259400 | Health Risk | Pathogenic | — |
| RS2149081651 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS2149082294 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS2523678676 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2523685586 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS758290491 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS769034963 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS773333490 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS774014588 | Health Risk | Pathogenic | Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia |
| RS1373739660 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS752764598 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS753787033 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS769373772 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS777360560 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia 83 |
| RS777607274 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |