Genopathy
Gene-Disorder Association · Article
Gene
MBTPS1
Membrane Bound Transcription Factor Peptidase, Site 1
Disorder
Congenital Disorder Of Glycosylation, Type In
First reported 1979
Key publication · disorder Antifertility efficacy of twice daily oral administration of 6-chloro-6-deoxy-D-glucose (6 CDG) in male rats.Contraception · 1979
Manually curated
Association Review

In brief

The association between MBTPS1 (Membrane Bound Transcription Factor Peptidase, Site 1) and Congenital Disorder Of Glycosylation, Type In is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 50
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.

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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
MBTPS1

The gene

1 source summary

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

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04
Congenital Disorder Of Glycosylation, Type In

The disorder

16 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

36 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
Provenance

References & sources

7 references

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

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