Genopathy
Gene-Disorder Association · Article
Gene
PPT1
Palmitoyl-Protein Thioesterase 1
Disorder
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
First reported 2000
Supporting publications 3
Key publication · disorder Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain.American journal of human genetics · 2000
Association Review

In brief

The association between PPT1 (Palmitoyl-Protein Thioesterase 1) and Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 52
Compounds 0
Trials 0
Publications 3
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
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies

The disorder

7 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

27 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

1 clinical variant

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

3 publications

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

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09
Provenance

References & sources

8 references

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

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