MCID: CHT005
MIFTS: 19

Chitotriosidase Deficiency malady

Genetic diseases (common) category
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Summaries for Chitotriosidase Deficiency

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MalaCards based summary: 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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Chitotriosidase Deficiency, Aliases & Descriptions:

Name: Chitotriosidase Deficiency 20 22 62


Classifications:

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


Related Diseases for Chitotriosidase Deficiency

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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 disease10.0GBA, CHIT1
6splenomegaly9.9CHIT1, GBA
7gaucher's disease9.9GBA, CHIT1
8lysosomal storage disease9.9CHIT1, GBA
9deficiency anemia9.9CHIT1, GBA
10thrombocytopenia9.8CHIT1, GBA
11dementia9.8GBA, 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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Drug clinical trials:

Search ClinicalTrials for Chitotriosidase Deficiency

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 Deficiency20 22 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
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. (25256524)
2014
2
Chitotriosidase deficiency: a mutation update in an african population. (23430794)
2013
3
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. (19819171)
2010
4
Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes. (20178893)
2010
5
Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population. (17765019)
2007
6
Chitotriosidase deficiency in survivors of Candida sepsis. (12482412)
2002
7
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. (8972767)
1996

Variations for Chitotriosidase Deficiency

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Clinvar genetic disease variations for Chitotriosidase Deficiency:

6
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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Expression patterns in normal tissues for genes affiliated with Chitotriosidase Deficiency

Search GEO for disease gene expression data for Chitotriosidase Deficiency.

Pathways for genes affiliated with Chitotriosidase Deficiency

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Compounds for genes affiliated with Chitotriosidase Deficiency

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1miglustat44 1110.2CHIT1, GBA
2glucosylceramide44 2410.2CHIT1, GBA
3mannose449.1CHIT1, GBA
4lipid449.1CHIT1, GBA
5polysaccharide449.0GBA, CHIT1
6Water248.8CHIT1, 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

Sources for Chitotriosidase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet