MCID: CHT005
MIFTS: 21

Chitotriosidase Deficiency malady

Summaries for Chitotriosidase Deficiency

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33MalaCards
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MalaCards: Chitotriosidase Deficiency is related to niemann–pick disease and niemann-pick disease. An important gene associated with Chitotriosidase Deficiency is CHIT1 (chitinase 1 (chitotriosidase)), and among its related pathways is Amino sugar and nucleotide sugar metabolism. The compounds N-Acetyl-D-glucosamine and miglustat have been mentioned in the context of this disorder.

Aliases & Classifications for Chitotriosidase Deficiency

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20GeneTests, 22GTR
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Aliases & Descriptions:

chitotriosidase deficiency 20 22


Related Diseases for Chitotriosidase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Chitotriosidase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1niemann–pick disease30.0CHIT1
2niemann-pick disease10.1
3amyloidosis10.1
4sepsis10.1
5gaucher disease type 110.0GBA, CHIT1
6gaucher's disease10.0GBA, CHIT1
7fabry disease10.0GBA, CHIT1
8lysosomal storage disease10.0GBA, CHIT1
9splenomegaly10.0GBA, CHIT1

Graphical network of diseases related to Chitotriosidase Deficiency:



Diseases related to chitotriosidase deficiency

Clinical Features for Chitotriosidase Deficiency

Drugs & Therapeutics for Chitotriosidase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests, 22GTR
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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

Animal Models for Chitotriosidase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Chitotriosidase Deficiency

Sources:
51PubMed
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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
The human chitotriosidase gene. Nature of inherited enzyme deficiency. (9748235)
1998
7
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. (8972767)
1996

Genetic Variations for Chitotriosidase Deficiency

Expression for genes affiliated with Chitotriosidase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
30KEGG
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Pathways related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CHIA, CHIT1

Compounds for genes affiliated with Chitotriosidase Deficiency

Sources:
11DrugBank, 24HMDB, 45Novoseek
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Compounds related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1N-Acetyl-D-glucosamine11 2410.5CHIT1, CHIA
2miglustat45 1110.2GBA, CHIT1
3mannose459.2GBA, CHIT1
4chitin45 2410.2CHIA, CHIT1, CHI3L1
5glucosylceramide45 249.9GBA, CHIT1

GO Terms for genes affiliated with Chitotriosidase Deficiency

Sources:
16Gene Ontology
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Cellular components related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.5CHIA, CHIT1, CHI3L2, CHI3L1

Biological processes related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polysaccharide catabolic processGO:0002729.5CHIT1, CHIA
2cellular response to tumor necrosis factorGO:0713569.1GBA, CHI3L1
3chitin catabolic processGO:0060327.9OVGP1, CHIA, CHIT1, CHI3L2, CHI3L1
4carbohydrate metabolic processGO:0059757.7OVGP1, GBA, CHI3L2, CHI3L1

Molecular functions related to Chitotriosidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chitin bindingGO:0080618.5CHIA, CHIT1, CHI3L2, CHI3L1
2chitinase activityGO:0045687.6OVGP1, CHIA, CHIT1, CHI3L2, CHI3L1

Products for genes affiliated with Chitotriosidase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chitotriosidase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet