Genopathy
Gene-Disorder Association · Article
Gene
AMPD1
Adenosine Monophosphate Deaminase 1
Disorder
Adenosine Monophosphate Deaminase Deficiency
First reported 1992
Key publication · gene–disorder Molecular basis of AMP deaminase deficiency in skeletal muscle.Proceedings of the National Academy of Sciences of the United States of America · 1992
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 AMPD1 (Adenosine Monophosphate Deaminase 1) and Adenosine Monophosphate Deaminase Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 457
Symptoms 8
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

3 sources

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

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03
AMPD1

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

457 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
Provenance

References & sources

7 references

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

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