Genopathy
Gene-Disorder Association · Article
Gene
MFSD8
Major Facilitator Superfamily Domain Containing 8
Disorder
Ceroid Lipofuscinosis, Neuronal, 5
First reported 1950
Key publication · disorder [Northern boundary of propagation of ticks Ixodes ricinus and Ixodes persulcatus in Karelian-Finnish Socialist Soviet Republic].Zoologicheskii zhurnal · 1950
Manually curated
Association Review

In brief

The association between MFSD8 (Major Facilitator Superfamily Domain Containing 8) and Ceroid Lipofuscinosis, Neuronal, 5 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 39
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
MFSD8

The gene

1 source summary

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

Request access
04
Ceroid Lipofuscinosis, Neuronal, 5

The disorder

15 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

23 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

6 references

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

Request access