MCID: CHT005
MIFTS: 19

Chitotriosidase Deficiency malady

Genetic diseases (common) category

Summaries for Chitotriosidase Deficiency

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34MalaCards
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MalaCards: Chitotriosidase Deficiency is related to niemann-pick disease and amyloidosis. An important gene associated with Chitotriosidase Deficiency is CHIT1 (chitinase 1 (chitotriosidase)). The compounds miglustat and glucosylceramide have been mentioned in the context of this disorder.

Aliases & Classifications for Chitotriosidase Deficiency

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Sources:
21GeneTests, 23GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

chitotriosidase deficiency 21 23


Related Diseases for Chitotriosidase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Chitotriosidase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease10.1
2amyloidosis10.1
3sepsis10.1
4gaucher disease type 110.0CHIT1, GBA
5fabry disease10.0CHIT1, GBA
6splenomegaly10.0CHIT1, GBA
7gaucher's disease10.0GBA, CHIT1
8lysosomal storage disease10.0GBA, CHIT1
9deficiency anemia10.0GBA, CHIT1
10thrombocytopenia10.0CHIT1, GBA
11dementia9.9GBA, CHIT1

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Chitotriosidase Deficiency

Drug clinical trials:

Search ClinicalTrials for Chitotriosidase Deficiency

Search NIH Clinical Center for Chitotriosidase Deficiency

Search CenterWatch for Chitotriosidase Deficiency

Genetic Tests for Chitotriosidase Deficiency

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Chitotriosidase Deficiency:

id Genetic test Affiliating Genes
1 Chitotriosidase Deficiency21 23 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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53PubMed
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Articles related to Chitotriosidase Deficiency:

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

Variations for Chitotriosidase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Chitotriosidase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1CHIT1NM_003465.2(CHIT1): c.220G> A (p.Glu74Lys)single nucleotide variantPathogenicrs137852607GRCh37Chr 1, 203194834: 203194834
2CHIT1NM_003465.2(CHIT1): c.304G> A (p.Gly102Ser)single nucleotide variantPathogenicrs2297950GRCh37Chr 1, 203194186: 203194186

Expression for genes affiliated with Chitotriosidase Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chitotriosidase Deficiency

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Pathways for genes affiliated with Chitotriosidase Deficiency

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Compounds for genes affiliated with Chitotriosidase Deficiency

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Sources:
46Novoseek, 12DrugBank, 25HMDB
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Compounds related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1miglustat46 1210.2CHIT1, GBA
2glucosylceramide46 2510.2CHIT1, GBA
3mannose469.1CHIT1, GBA
4lipid469.1CHIT1, GBA
5polysaccharide469.0GBA, CHIT1
6Water258.8CHIT1, GBA

GO Terms for genes affiliated with Chitotriosidase Deficiency

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Products for genes affiliated with Chitotriosidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chitotriosidase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet