Genopathy
Gene-Disorder Association · Article
Gene
HPDL
4-Hydroxyphenylpyruvate Dioxygenase Like
Disorder
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
First reported 2021
Supporting publications 8
Key publication · gene–disorder Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.Brain communications · 2021
Key publication · disorder Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait?European journal of pediatrics · 1977
Manually curated
Association Review

In brief

The association between HPDL (4-Hydroxyphenylpyruvate Dioxygenase Like) and Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 32
Symptoms 77
Compounds 0
Trials 0
Publications 8
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
HPDL

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

34 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

32 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

8 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

15 references

Every source and publication cited across this dossier, as one numbered reference list.

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