Genopathy
Gene-Disorder Association · Article
Gene
SUMF1
Sulfatase Modifying Factor 1
Disorder
Lysosomal Storage Disease
First reported 2003
Supporting publications 1
Key publication · gene–disorder The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.Gene · 2003
Key publication · disorder Electron microscopy of intestinal suction-biopsy specimens as an aid in the diagnosis of mucopolysaccharidoses and other lysosomal storage diseases.Maandschrift voor kindergeneeskunde · 1971
Manually curated
Association Review

In brief

The association between SUMF1 (Sulfatase Modifying Factor 1) and Lysosomal Storage Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
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
SUMF1

The gene

1 source summary

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

Request access
04
Lysosomal Storage Disease

The disorder

6 database identifiers

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

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

3 references

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

Request access