Genopathy
Gene-Disorder Association · Article
Gene
PAPSS2
3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2
Disorder
Brachyolmia
First reported 1973
Key publication · disorder Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).Biochemical medicine · 1973
Association Review

In brief

The association between PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2) and Brachyolmia is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
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
PAPSS2

The gene

1 source summary

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

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04
Brachyolmia

The disorder

5 database identifiers

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

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05
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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06
Mechanism overlap

Shared mechanisms

1 shared pathway

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

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07
Provenance

References & sources

7 references

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

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