MCID: CHT005
MIFTS: 19

Chitotriosidase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Chitotriosidase Deficiency

MalaCards integrated aliases for Chitotriosidase Deficiency:

Name: Chitotriosidase Deficiency 53 28 69
Chitotriosidase 13
Chitd 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
'nondisease'


HPO:

31
chitotriosidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614122
MedGen 39 C3279902
SNOMED-CT via HPO 65 258211005
UMLS 69 C3279902

Summaries for Chitotriosidase Deficiency

MalaCards based summary : Chitotriosidase Deficiency, also known as chitotriosidase, is related to niemann-pick disease and ancylostomiasis. An important gene associated with Chitotriosidase Deficiency is CHIT1 (Chitinase 1).

Description from OMIM: 614122

Related Diseases for Chitotriosidase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 28.6 CHIT1 GBA
2 ancylostomiasis 9.7
3 amyloidosis 9.7
4 gaucher disease, type i 9.6 CHIT1 GBA
5 gaucher's disease 9.5 CHIT1 GBA

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



Diseases related to Chitotriosidase Deficiency

Symptoms & Phenotypes for Chitotriosidase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
no detectable chitotriosidase activity


Clinical features from OMIM:

614122

Drugs & Therapeutics for Chitotriosidase Deficiency

Search Clinical Trials , NIH Clinical Center for Chitotriosidase Deficiency

Genetic Tests for Chitotriosidase Deficiency

Genetic tests related to Chitotriosidase Deficiency:

# Genetic test Affiliating Genes
1 Chitotriosidase Deficiency 28 CHIT1

Anatomical Context for Chitotriosidase Deficiency

Publications for Chitotriosidase Deficiency

Articles related to Chitotriosidase Deficiency:

# 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
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. ( 19819171 )
2010
5
Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes. ( 20178893 )
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.62 CHIT1 GBA

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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