Genopathy
Gene-Disorder Association · Article
Gene
CHIT1
Chitinase 1
Disorder
Chitotriosidase Deficiency
First reported 1998
Key publication · gene–disorder The human chitotriosidase gene. Nature of inherited enzyme deficiency.The Journal of biological chemistry · 1998
Key publication · disorder Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.The Journal of clinical investigation · 1994
Manually curated
Association Review

In brief

The association between CHIT1 (Chitinase 1) and Chitotriosidase Deficiency is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis.

Sources 2
Clinical variants 175
Symptoms 1
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.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
CHIT1

The gene

1 source summary

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

Request access
04
Chitotriosidase Deficiency

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

1 clinical feature

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

Request access
06
ClinVar and variant evidence

Genetic basis

175 clinical variants

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

Request access
07
Provenance

References & sources

4 references

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

Request access