Genopathy
Gene-Disorder Association · Article
Gene
HSPD1
Heat Shock Protein Family D (Hsp60) Member 1
Disorder
Spastic Paraplegia 13, Autosomal Dominant
First reported 2007
Supporting publications 4
Key publication · gene–disorder A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.Journal of neurology · 2007
Key publication · disorder [Nosological classification of bokhoror].Genetika · 1977
Manually curated
Association Review

In brief

The association between HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1) and Spastic Paraplegia 13, Autosomal Dominant is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 47
Symptoms 24
Compounds 0
Trials 0
Publications 4
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

5 sources

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

Request access
03
HSPD1

The gene

1 source summary

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

Request access
04
Spastic Paraplegia 13, Autosomal Dominant

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

47 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

4 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access