Genopathy
Gene-Disorder Association · Article
Gene
AMPD3
Adenosine Monophosphate Deaminase 3
Disorder
Adenosine Monophosphate Deaminase Deficiency
First reported 1977
Supporting publications 2
Key publication · disorder [Exercise-induced muscular weakness, myalgia and contractures. I. A clinical review].Schweizerische medizinische Wochenschrift · 1977
Manually curated
Association Review

In brief

The association between AMPD3 (Adenosine Monophosphate Deaminase 3) and Adenosine Monophosphate Deaminase Deficiency is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 1
Symptoms 8
Compounds 0
Trials 0
Publications 2
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
AMPD3

The gene

1 source summary

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

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04
Adenosine Monophosphate Deaminase Deficiency

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

7 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

2 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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