Genopathy
Gene-Disorder Association · Article
Gene
HACE1
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1
Disorder
Hereditary Spastic Paraplegia
First reported 1950
Key publication · disorder Hereditary spastic paraplegia.Journal of neurology, neurosurgery, and psychiatry · 1950
Manually curated
Association Review

In brief

The association between HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) and Hereditary Spastic Paraplegia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 3
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
HACE1

The gene

1 source summary

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

Request access
04
Hereditary Spastic Paraplegia

The disorder

10 database identifiers

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

Request access
05
Provenance

References & sources

4 references

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

Request access