Genopathy
Gene-Disorder Association · Article
Gene
CYP2U1
Cytochrome P450 Family 2 Subfamily U Member 1
Disorder
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
First reported 2016
Supporting publications 7
Key publication · gene–disorder CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2016
Key publication · disorder Pseudoxanthoma elasticum.Postgraduate medical journal · 1970
Manually curated
Association Review

In brief

The association between CYP2U1 (Cytochrome P450 Family 2 Subfamily U Member 1) and Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 45
Symptoms 25
Compounds 0
Trials 0
Publications 7
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

3 sources

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

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03
CYP2U1

The gene

1 source summary

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

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04
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum

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
Phenotype

Clinical features

15 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

45 clinical variants

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

7 publications

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

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09
Provenance

References & sources

12 references

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

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