Genopathy
Gene-Disorder Association · Article
Gene
FLAD1
Flavin Adenine Dinucleotide Synthetase 1
Disorder
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
First reported 1969
Supporting publications 3
Key publication · disorder Myopathy associated with abnormal lipid metabolism in skeletal muscle.Lancet (London, England) · 1969
Manually curated
Association Review

In brief

The association between FLAD1 (Flavin Adenine Dinucleotide Synthetase 1) and Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 16
Symptoms 28
Compounds 0
Trials 0
Publications 3
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

4 sources

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

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03
FLAD1

The gene

1 source summary

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

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04
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency

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
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

16 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

3 publications

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

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09
Provenance

References & sources

9 references

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

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