MCID: CHT005
MIFTS: 18

Chitotriosidase Deficiency malady

Categories: Genetic diseases

Aliases & Classifications for Chitotriosidase Deficiency

Aliases & Descriptions for Chitotriosidase Deficiency:

Name: Chitotriosidase Deficiency 24 29 69
Chitotriosidase 13

Classifications:



Summaries for Chitotriosidase Deficiency

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). The drug Eliglustat has been mentioned in the context of this disorder.

Related Diseases for Chitotriosidase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 chromosome breakage syndromes 9.8 CHIT1 GBA
2 hypothalamic disease 9.8 CHIT1 GBA
3 gaucher disease, type ii 9.8 CHIT1 GBA
4 osteochondrosis 9.7 CHIT1 GBA
5 pick disease 9.6
6 niemann-pick disease 9.6
7 amyloidosis 9.6

Graphical network of the top 20 diseases related to Chitotriosidase Deficiency:



Diseases related to Chitotriosidase Deficiency

Symptoms & Phenotypes for Chitotriosidase Deficiency

Drugs & Therapeutics for Chitotriosidase Deficiency

Drugs for Chitotriosidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eliglustat Approved Phase 2 491833-29-5 23652731

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
2 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
3 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
4 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3
5 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2
6 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2
7 A Natural History Study of the Gangliosidoses Recruiting NCT00668187

Search NIH Clinical Center for Chitotriosidase Deficiency

Genetic Tests for Chitotriosidase Deficiency

Genetic tests related to Chitotriosidase Deficiency:

id Genetic test Affiliating Genes
1 Chitotriosidase Deficiency 29 24 CHIT1

Anatomical Context for Chitotriosidase Deficiency

Publications for Chitotriosidase Deficiency

Articles related to Chitotriosidase Deficiency:

id Title Authors Year
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

Expression for Chitotriosidase Deficiency

Search GEO for disease gene expression data for Chitotriosidase Deficiency.

Pathways for Chitotriosidase Deficiency

GO Terms for Chitotriosidase Deficiency

Cellular components related to Chitotriosidase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.62 CHIT1 GBA

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.96 CHIT1 GBA
2 carbohydrate metabolic process GO:0005975 8.62 CHIT1 GBA

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.62 CHIT1 GBA

Sources for Chitotriosidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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