Genopathy
Gene-Disorder Association · Article
Gene
MFSD8
Major Facilitator Superfamily Domain Containing 8
Disorder
Neuronal Ceroid Lipofuscinosis
First reported 2009
Supporting publications 20
Key publication · gene–disorder Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Brain : a journal of neurology · 2009
Key publication · disorder Familial idiocy due to neuronal lipidosis (so-called late amaurotic idiocy).The American journal of psychiatry · 1950
Manually curated
Association Review

In brief

The association between MFSD8 (Major Facilitator Superfamily Domain Containing 8) and Neuronal Ceroid Lipofuscinosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 9
Symptoms 4
Compounds 0
Trials 0
Publications 20
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

2 sources

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

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03
MFSD8

The gene

1 source summary

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

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04
Neuronal Ceroid Lipofuscinosis

The disorder

10 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

9 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

20 publications

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

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07
Provenance

References & sources

13 references

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

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