Genopathy
Gene-Disorder Association · Article
Gene
UFSP2
UFM1 Specific Peptidase 2
Disorder
Pontocerebellar Hypoplasia, Type 4
First reported 1990
Key publication · disorder DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation.Genomics · 1990
Association Review

In brief

The association between UFSP2 (UFM1 Specific Peptidase 2) and Pontocerebellar Hypoplasia, Type 4 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 43
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
UFSP2

The gene

1 source summary

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

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04
Pontocerebellar Hypoplasia, Type 4

The disorder

12 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

26 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
Provenance

References & sources

7 references

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

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