Genopathy
Gene-Disorder Association · Article
Gene
MBTPS2
Membrane Bound Transcription Factor Peptidase, Site 2
Disorder
Ifap Syndrome 1, With Or Without Bresheck Syndrome
First reported 2000
Supporting publications 6
Key publication · gene–disorder Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?European journal of dermatology : EJD · 2000
Key publication · disorder Ichthyosis follicularis.Archives of dermatology · 1959
Manually curated
Association Review

In brief

The association between MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2) and Ifap Syndrome 1, With Or Without Bresheck Syndrome is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 14
Symptoms 93
Compounds 0
Trials 0
Publications 6
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

4 sources

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

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03
MBTPS2

The gene

1 source summary

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

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04
Ifap Syndrome 1, With Or Without Bresheck Syndrome

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

63 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

14 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

6 publications

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

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09
Provenance

References & sources

12 references

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

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