Genopathy
Gene-Disorder Association · Article
Gene
CIITA
Class II Major Histocompatibility Complex Transactivator
Disorder
Mhc Class Ii Deficiency 1
First reported 1993
Supporting publications 17
Key publication · gene–disorder Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).Cell · 1993
Key publication · disorder Thyroglobulin biosynthesis in a larval (ammocoete) and adult freshwater lamprey (Lampetra planeri Bl.).Comparative biochemistry and physiology. B, Comparative biochemistry · 1978
Manually curated
Association Review

In brief

The association between CIITA (Class II Major Histocompatibility Complex Transactivator) and Mhc Class Ii Deficiency 1 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 1,626
Symptoms 49
Compounds 0
Trials 0
Publications 17
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
CIITA

The gene

1 source summary

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

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04
Mhc Class Ii Deficiency 1

The disorder

21 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

31 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

1,626 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

17 publications

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

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09
Provenance

References & sources

14 references

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

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