Genopathy
Gene-Disorder Association · Article
Gene
MBTPS2
Membrane Bound Transcription Factor Peptidase, Site 2
Disorder
Congenital Nonbullous Ichthyosiform Erythroderma
First reported 1950
Key publication · disorder Congenital ichthyosiform erythroderma.A.M.A. archives of dermatology and syphilology · 1950
Manually curated
Association Review

In brief

The association between MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2) and Congenital Nonbullous Ichthyosiform Erythroderma is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 14
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
MBTPS2

The gene

1 source summary

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

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04
Congenital Nonbullous Ichthyosiform Erythroderma

The disorder

8 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

13 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

5 references

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

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