Genopathy
Gene-Disorder Association · Article
Gene
ITCH
Itchy E3 Ubiquitin Protein Ligase
Disorder
Autoimmune Disease, Multisystem, With Facial Dysmorphism
First reported 2010
Supporting publications 4
Key publication · gene–disorder Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.American journal of human genetics · 2010
Key publication · disorder Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.Neurology · 1975
Manually curated
Association Review

In brief

The association between ITCH (Itchy E3 Ubiquitin Protein Ligase) and Autoimmune Disease, Multisystem, With Facial Dysmorphism is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 424
Symptoms 64
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

2 sources

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

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03
ITCH

The gene

1 source summary

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

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04
Autoimmune Disease, Multisystem, With Facial Dysmorphism

The disorder

5 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

51 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

424 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

4 publications

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

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09
Provenance

References & sources

8 references

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

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