Genopathy
Gene-Disorder Association · Article
Gene
GNPTG
N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma
Disorder
Mucolipidosis Ii Alpha/Beta
First reported 2005
Supporting publications 4
Key publication · gene–disorder Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.Human mutation · 2005
Key publication · disorder Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.Science (New York, N.Y.) · 1967
Manually curated
Association Review

In brief

The association between GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma) and Mucolipidosis Ii Alpha/Beta is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 194
Compounds 0
Trials 0
Publications 4
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
GNPTG

The gene

1 source summary

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

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04
Mucolipidosis Ii Alpha/Beta

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

138 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

4 publications

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

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08
Provenance

References & sources

10 references

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

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