MCID: CHT005
MIFTS: 13

Chitotriosidase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Chitotriosidase Deficiency

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Aliases & Descriptions for Chitotriosidase Deficiency:

Name: Chitotriosidase Deficiency 22 24 65

Classifications:



External Ids:

UMLS65 C3279902

Summaries for Chitotriosidase Deficiency

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MalaCards based summary: Chitotriosidase Deficiency is related to lung cancer and hepatitis. An important gene associated with Chitotriosidase Deficiency is CHIT1 (Chitinase 1). Affiliated tissues include brain, t cells and tongue.

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
1lung cancer10.1
2hepatitis10.1
3hepatitis b10.1
4keloids10.1
5ectopic pregnancy10.1
6sirenomelia10.1

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
eliglustat tartrate

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 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 Deficiency22 CHIT1

Anatomical Context for Chitotriosidase Deficiency

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MalaCards organs/tissues related to Chitotriosidase Deficiency:

33
Brain, T cells, Tongue

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
SNX17 affects T cell activation by regulating TCR and integrin recycling. (25825439)
2015
2
De Novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations. (22415356)
2012
3
HER family receptors expression in squamous cell carcinoma of the tongue: study of the possible prognostic and biological significance. (19691460)
2010
4
Increased LIS1 expression affects human and mouse brain development. (19136950)
2009
5
Progestin suppresses matrix metalloproteinase production in endometrial cancer. (12713999)
2003
6
Treatment of bacillary dysentery in Vietnamese children: two doses of ofloxacin versus 5-days nalidixic acid. (10975012)
2000
7
Cyclin T1 domains involved in complex formation with Tat and TAR RNA are critical for tat-activation. (10329125)
1999

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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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