MCID: CHT005
MIFTS: 17

Chitotriosidase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Chitotriosidase Deficiency

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Aliases & Descriptions for Chitotriosidase Deficiency:

Name: Chitotriosidase Deficiency 24 26 67
 
Chitotriosidase 12

Classifications:



Summaries for Chitotriosidase Deficiency

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

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 disease9.6
2niemann-pick disease9.6
3amyloidosis9.6
4cholestasis, familial intrahepatic, of pregnancy 19.5CHIT1, GBA
5reproductive organ cancer9.5CHIT1, GBA
6gaucher disease, type i9.5CHIT1, GBA
7osteochondritis dissecans9.3CHIT1, 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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Drugs for Chitotriosidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EliglustatapprovedPhase 211491833-29-523652731
Synonyms:
 
N-[(1R,2R)-1-(2,3-Dihydro-1,4-benzodioxin-6-yl)-1-hydroxy-3-(1-pyrrolidinyl)-2-propanyl]octanamide

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 3
2Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 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 PatientsCompletedNCT00358150Phase 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 Deficiency26 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
Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene. (27129798)
2016
2
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. (25256524)
2014
3
Chitotriosidase deficiency: a mutation update in an african population. (23430794)
2013
4
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. (19819171)
2010
5
Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes. (20178893)
2010
6
Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population. (17765019)
2007
7
Chitotriosidase deficiency in survivors of Candida sepsis. (12482412)
2002
8
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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Cellular components related to Chitotriosidase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056159.1CHIT1, GBA

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet