MCID: CHT005
MIFTS: 14

Chitotriosidase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Chitotriosidase Deficiency

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Aliases & Descriptions for Chitotriosidase Deficiency:

Name: Chitotriosidase Deficiency 22 24 65


Classifications:



Summaries for Chitotriosidase Deficiency

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MalaCards based summary: Chitotriosidase Deficiency is related to pick disease and niemann-pick disease. An important gene associated with Chitotriosidase Deficiency is CHIT1 (Chitinase 1 (Chitotriosidase)).

Related Diseases for Chitotriosidase Deficiency

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Diseases related to Chitotriosidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pick disease10.1
2niemann-pick disease10.1
3amyloidosis10.1
4chkb-related muscle diseases9.8CHIT1, GBA
5telogen effluvium9.8CHIT1, GBA
6gaucher disease, type i9.8CHIT1, GBA
7osteoarthritis9.7CHIT1, GBA

Graphical network of diseases related to Chitotriosidase Deficiency:



Diseases related to chitotriosidase deficiency

Symptoms for Chitotriosidase Deficiency

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Drugs & Therapeutics for Chitotriosidase Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 3
2A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 3
3Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseCompletedNCT01614574Phase 3
4Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseCompletedNCT01842841Phase 3
5Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyCompletedNCT00433147Phase 2
6A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher PatientsActive, not recruitingNCT00358150Phase 2
7A Natural History Study of the GangliosidosesRecruitingNCT00668187

Search NIH Clinical Center for Chitotriosidase Deficiency

Genetic Tests for Chitotriosidase Deficiency

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Genetic tests related to Chitotriosidase Deficiency:

id Genetic test Affiliating Genes
1 Chitotriosidase Deficiency22 24 CHIT1

Anatomical Context for Chitotriosidase Deficiency

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Animal Models for Chitotriosidase Deficiency or affiliated genes

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Publications for Chitotriosidase Deficiency

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Articles related to Chitotriosidase Deficiency:

idTitleAuthorsYear
1
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. (25256524)
2014
2
Chitotriosidase deficiency: a mutation update in an african population. (23430794)
2013
3
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. (19819171)
2010
4
Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes. (20178893)
2010
5
Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population. (17765019)
2007
6
Chitotriosidase deficiency in survivors of Candida sepsis. (12482412)
2002
7
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. (8972767)
1996

Variations for Chitotriosidase Deficiency

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Expression for genes affiliated with Chitotriosidase Deficiency

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Search GEO for disease gene expression data for Chitotriosidase Deficiency.

Pathways for genes affiliated with Chitotriosidase Deficiency

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GO Terms for genes affiliated with Chitotriosidase Deficiency

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Biological processes related to Chitotriosidase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:00059759.1CHIT1, GBA

Sources for Chitotriosidase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet