Genopathy
Gene-Disorder Association · Article
Gene
PPT1
Palmitoyl-Protein Thioesterase 1
Disorder
Lysosomal Storage Disease
First reported 1998
Key publication · gene–disorder Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.Journal of neurochemistry · 1998
Key publication · disorder Electron microscopy of intestinal suction-biopsy specimens as an aid in the diagnosis of mucopolysaccharidoses and other lysosomal storage diseases.Maandschrift voor kindergeneeskunde · 1971
Manually curated
Association Review

In brief

The association between PPT1 (Palmitoyl-Protein Thioesterase 1) and Lysosomal Storage Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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.

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02
Provenance

Evidence and sources

1 source

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

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03
PPT1

The gene

1 source summary

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

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04
Lysosomal Storage Disease

The disorder

6 database identifiers

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

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05
Provenance

References & sources

2 references

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

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