Genopathy
Gene-Disorder Association · Article
Gene
PSAP
Prosaposin
Disorder
Metachromatic Leukodystrophy
First reported 1990
Supporting publications 19
Key publication · gene–disorder Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.Proceedings of the National Academy of Sciences of the United States of America · 1990
Key publication · disorder Histochemistry of the eye in metachromatic leukoencephalopathy.A.M.A. archives of ophthalmology · 1958
Manually curated
Association Review

In brief

The association between PSAP (Prosaposin) and Metachromatic Leukodystrophy is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 112
Symptoms 113
Compounds 0
Trials 0
Publications 19
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

3 sources

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

Request access
03
PSAP

The gene

1 source summary

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

Request access
04
Metachromatic Leukodystrophy

The disorder

26 database identifiers

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

Request access
05
Phenotype

Clinical features

90 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

112 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

1 shared pathway

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

Request access
08
Literature

Reading

19 publications

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

Request access
09
Provenance

References & sources

19 references

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

Request access