MCID: CHT005
MIFTS: 18

Chitotriosidase Deficiency malady

Summaries for Chitotriosidase Deficiency

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32MalaCards
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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)), 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

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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 disease10.0
2amyloidosis10.0
3niemann–pick disease10.0CHIT1
4gaucher disease type 110.0CHIT1, GBA
5gaucher's disease10.0CHIT1, GBA
6fabry disease10.0GBA, CHIT1
7lysosomal storage disease10.0CHIT1, GBA
8splenomegaly10.0GBA, CHIT1

Graphical network of diseases related to Chitotriosidase Deficiency:



Diseases related to chitotriosidase deficiency

Clinical Features for Chitotriosidase Deficiency

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Drugs & Therapeutics for Chitotriosidase Deficiency

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Sources:
5CenterWatch, 41NIH 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

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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

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Animal Models for Chitotriosidase Deficiency or affiliated genes

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Publications for Chitotriosidase Deficiency

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Genetic Variations for Chitotriosidase Deficiency

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Expression for genes affiliated with Chitotriosidase Deficiency

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Sources:
1BioGPS, 15Gene 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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29KEGG
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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

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

idCompoundScoreTop Affiliating Genes
1N-Acetyl-D-glucosamine11 2410.5CHIT1, CHIA
2miglustat44 1110.2GBA, CHIT1
3mannose449.2GBA, CHIT1
4chitin44 2410.2CHIA, CHIT1, CHI3L1
5glucosylceramide44 249.9GBA, CHIT1

GO Terms for genes affiliated with Chitotriosidase Deficiency

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet