MCID: CHT005
MIFTS: 18

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 27 68
 
Chitotriosidase 12

Classifications:



Summaries for Chitotriosidase Deficiency

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MalaCards based summary: Chitotriosidase Deficiency, also known as chitotriosidase, is related to chromosome breakage syndromes and hypothalamic 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
1chromosome breakage syndromes9.8CHIT1, GBA
2hypothalamic disease9.8CHIT1, GBA
3gaucher disease, type ii9.8CHIT1, GBA
4osteochondrosis9.7CHIT1, GBA
5pick disease9.6
6niemann-pick disease9.6
7amyloidosis9.6

Graphical network of diseases related to Chitotriosidase Deficiency:



Diseases related to chitotriosidase deficiency

Symptoms & Phenotypes 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 Deficiency27 24 CHIT1

Anatomical Context for Chitotriosidase Deficiency

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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
Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes. (20178893)
2010
5
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. (19819171)
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
1lysosomeGO:00057649.1CHIT1, GBA

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

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:00059759.8CHIT1, GBA
2metabolic processGO:00081529.1CHIT1, GBA

Molecular functions related to Chitotriosidase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, acting on glycosyl bondsGO:00167989.1CHIT1, GBA

Sources for Chitotriosidase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet