Genopathy
Gene-Disorder Association · Article
Gene
PHKA1
Phosphorylase Kinase Regulatory Subunit Alpha 1
Disorder
Glycogen Storage Disease Of Heart, Lethal Congenital
First reported 1973
Key publication · disorder Normal pregnancy and successful delivery in myophosphorylase deficiency (McArdle's disease).Journal of neurology, neurosurgery, and psychiatry · 1973
Manually curated
Association Review

In brief

The association between PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1) and Glycogen Storage Disease Of Heart, Lethal Congenital is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 48
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
PHKA1

The gene

1 source summary

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

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04
Glycogen Storage Disease Of Heart, Lethal Congenital

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

34 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

5 references

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

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