CHITD
MCID: CHT005
MIFTS: 28

Chitotriosidase Deficiency (CHITD)

Categories: Genetic diseases

Aliases & Classifications for Chitotriosidase Deficiency

MalaCards integrated aliases for Chitotriosidase Deficiency:

Name: Chitotriosidase Deficiency 57 29 6 40 73
Chitotriosidase 13
Chitd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
'nondisease'


HPO:

32
chitotriosidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614122
MedGen 42 C3279902
SNOMED-CT via HPO 69 258211005
UMLS 73 C3279902

Summaries for Chitotriosidase Deficiency

MalaCards based summary : Chitotriosidase Deficiency, also known as chitotriosidase, is related to niemann-pick disease and gaucher's disease. An important gene associated with Chitotriosidase Deficiency is CHIT1 (Chitinase 1). Affiliated tissues include lung, liver and breast.

Description from OMIM: 614122

Related Diseases for Chitotriosidase Deficiency

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 29.4 CHIT1 GBA
2 gaucher's disease 29.3 CHIT1 GBA
3 gaucher disease, type iii 11.1
4 multiple sclerosis 10.2
5 beta-thalassemia 10.2
6 thalassemia 10.2
7 amyotrophic lateral sclerosis 1 10.1
8 lateral sclerosis 10.1
9 alzheimer disease 10.1
10 asthma 10.0
11 malaria 10.0
12 intermittent claudication 10.0
13 liver disease 10.0
14 fatty liver disease 10.0
15 arteries, anomalies of 9.9
16 osteoporosis 9.9
17 cystinosis, nephropathic 9.9
18 familial mediterranean fever 9.9
19 niemann-pick disease, type a 9.9
20 pulmonary disease, chronic obstructive 9.9
21 coronary artery anomaly 9.9
22 diabetes mellitus 9.9
23 glycogen storage disease 9.9
24 cystinosis 9.9
25 plasmodium falciparum malaria 9.9
26 pulmonary tuberculosis 9.9
27 ischemia 9.9
28 lung disease 9.9
29 glycogen storage disease due to glycogen branching enzyme deficiency 9.9
30 amyloidosis 9.9
31 splenomegaly 9.8 CHIT1 GBA
32 gaucher disease, type i 9.8 CHIT1 GBA
33 breast cancer 9.8
34 maturity-onset diabetes of the young, type 1 9.8
35 diabetes mellitus, noninsulin-dependent 9.8
36 prostate cancer 9.8
37 sarcoidosis 1 9.8
38 lung cancer 9.8
39 krabbe disease 9.8
40 polycythemia vera 9.8
41 adrenoleukodystrophy 9.8
42 aging 9.8
43 prostatic hyperplasia, benign 9.8
44 allergic rhinitis 9.8
45 niemann-pick disease, type b 9.8
46 arthritis 9.8
47 common variable immunodeficiency 9.8
48 critical limb ischemia 9.8
49 hematopoietic stem cell transplantation 9.8
50 lysosomal storage disease 9.8

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:

57
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 29 CHIT1

Anatomical Context for Chitotriosidase Deficiency

MalaCards organs/tissues related to Chitotriosidase Deficiency:

41
Lung, Liver, Breast, Ovary, Prostate, Bone, Spinal Cord

Publications for Chitotriosidase Deficiency

Articles related to Chitotriosidase Deficiency:

(show top 50) (show all 107)
# Title Authors Year
1
Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis. ( 30134252 )
2018
2
Chitotriosidase (CHIT1) is increased in microglia and macrophages in spinal cord of amyotrophic lateral sclerosis and cerebrospinal fluid levels correlate with disease severity and progression. ( 29142138 )
2018
3
Chitotriosidase: shucking the role of microglia in amyotrophic lateral sclerosis. ( 29180539 )
2018
4
Serum chitotriosidase: a circulating biomarker in polycythemia vera. ( 29993340 )
2018
5
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight. ( 29530534 )
2018
6
Human Chitotriosidase Does Not Catabolize Hyaluronan. ( 29247734 )
2018
7
Chitotriosidase inhibits allergic asthmatic airways via regulation of TGF-β expression and Foxp3+ Treg cells. ( 29420850 )
2018
8
Chitinase mRNA Levels Determined by QPCR in Crab-Eating Monkey (Macaca fascicularis) Tissues: Species-Specific Expression of Acidic Mammalian Chitinase and Chitotriosidase. ( 29747453 )
2018
9
Regulation and Role of Chitotriosidase during Lung Infection with Klebsiella pneumoniae. ( 29891554 )
2018
10
Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders. ( 30205089 )
2018
11
Chitotriosidase enhances TGFβ-Smad signaling and uptake of β-amyloid in N9 microglia. ( 30248366 )
2018
12
Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients. ( 30301968 )
2018
13
Serum chitotriosidase enzyme activity is closely related to HbA1c levels and the complications in patients with diabetes mellitus type 2. ( 28392356 )
2017
14
Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease. ( 28319420 )
2017
15
Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. ( 28427477 )
2017
16
Chitotriosidase as a novel biomarker of early atherosclerosis in hemodialysis patients. ( 27378685 )
2017
17
Chitotriosidase, a marker of innate immunity, is elevated in patients with primary breast cancer. ( 28582842 )
2017
18
Human Chitotriosidase: Catalytic Domain or Carbohydrate Binding Module, Who's Leading HCHT's Biological Function. ( 28584264 )
2017
19
In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase. ( 28736246 )
2017
20
Discovery of selective, orally bioavailable inhibitor of mouse chitotriosidase. ( 29292229 )
2017
21
Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene. ( 27129798 )
2016
22
Decreased Chitotriosidase Activity and Levels in Familial Mediterranean Fever. ( 27822927 )
2016
23
Verifying Sarcoidosis Activity: Chitotriosidase versus ACE in Sarcoidosis - a Case-control Study. ( 28670191 )
2016
24
Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers. ( 27843468 )
2016
25
Serum chitotriosidase in postmenopausal women with severe osteoporosis. ( 26243359 )
2016
26
Changes in glycosylation of human blood plasma chitotriosidase in patients with type 2 diabetes. ( 26494371 )
2016
27
Clinical use of plasma chitotriosidase in severe sepsis. ( 26550788 )
2016
28
Erratum to: Serum chitotriosidase in postmenopausal women with severe osteoporosis. ( 26786257 )
2016
29
Cerebrospinal fluid chitinase-3-like 2 and chitotriosidase are potential prognostic biomarkers in early multiple sclerosis. ( 26872061 )
2016
30
Immunomodulatory Effects of Chitotriosidase Enzyme. ( 26881065 )
2016
31
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India. ( 26975750 )
2016
32
Nasal Microbiome Composition Is Associated with Chitotriosidase (Chit1) Activity in Adult Hutterites. ( 27027937 )
2016
33
Chitotriosidase: A New Inflammatory Marker in Diabetic Complications. ( 27116685 )
2016
34
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis. ( 27234403 )
2016
35
Increased chitotriosidase activity in plasma of patients with type 2 diabetes. ( 27695487 )
2016
36
Functional Properties of Mouse Chitotriosidase Expressed in the Periplasmic Space of Escherichia coli. ( 27716783 )
2016
37
Cord blood and consecutive chitotriosidase activity: Relationship to prematurity and early prognosis. ( 25367205 )
2015
38
Chitotriosidase in the Pathogenesis of Inflammation, Interstitial Lung Diseases and COPD. ( 25553258 )
2015
39
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study. ( 25563799 )
2015
40
The effect of nonsurgical periodontal treatment on serum and saliva chitotriosidase activities in patients with periodontitis and coronary artery disease. ( 25565855 )
2015
41
Chitin recognition via chitotriosidase promotes pathologic type-2 helper T cell responses to cryptococcal infection. ( 25764512 )
2015
42
Serum cystatin C and chitotriosidase in acute P-407 induced dyslipidemia: Can they serve as potential early biomarkers for atherosclerosis? ( 26129870 )
2015
43
The relationship between chitotriosidase activity and tuberculosis. ( 26418349 )
2015
44
Serum chitotriosidase levels in cancer patients undergoing high dose chemotherapy and stem cell transplantation. ( 26439039 )
2015
45
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. ( 25256524 )
2014
46
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. ( 24831585 )
2014
47
Prognostic value of plasma chitotriosidase activity in acute stroke patients. ( 24148838 )
2014
48
Blood spot versus plasma chitotriosidase: a systematic clinical comparison. ( 24177195 )
2014
49
Increased Levels of Chitotriosidase and YKL-40 in Cerebrospinal Fluid from Patients with Alzheimer's Disease. ( 25254036 )
2014
50
Role of changes in serum chitotriosidase activity in mice under conditions of hyperlipidemia and lipid-lowering effect of carboxymethylated (1-3)-β-D-glycan. ( 25257411 )
2014

Variations for Chitotriosidase Deficiency

ClinVar genetic disease variations for Chitotriosidase Deficiency:

6 (show top 50) (show all 115)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHIT1 CHIT1, 24-BP DUP duplication Affects
2 CHIT1 CHIT1, GLY354ARG, LEU385LEU, AND 4-BP DEL deletion Affects
3 CHIT1 NM_003465.2(CHIT1): c.220G> A (p.Glu74Lys) single nucleotide variant Affects rs137852607 GRCh37 Chromosome 1, 203194834: 203194834
4 CHIT1 NM_003465.2(CHIT1): c.220G> A (p.Glu74Lys) single nucleotide variant Affects rs137852607 GRCh38 Chromosome 1, 203225706: 203225706
5 CHIT1 NM_003465.2(CHIT1): c.304G> A (p.Gly102Ser) single nucleotide variant Conflicting interpretations of pathogenicity, Affects rs2297950 GRCh37 Chromosome 1, 203194186: 203194186
6 CHIT1 NM_003465.2(CHIT1): c.304G> A (p.Gly102Ser) single nucleotide variant Conflicting interpretations of pathogenicity, Affects rs2297950 GRCh38 Chromosome 1, 203225058: 203225058
7 CHIT1 NM_003465.2(CHIT1): c.1073G> A (p.Trp358Ter) single nucleotide variant Uncertain significance rs201320385 GRCh37 Chromosome 1, 203186950: 203186950
8 CHIT1 NM_003465.2(CHIT1): c.1073G> A (p.Trp358Ter) single nucleotide variant Uncertain significance rs201320385 GRCh38 Chromosome 1, 203217822: 203217822
9 CHIT1 NM_003465.2(CHIT1): c.1073G> A (p.Trp358Ter) single nucleotide variant Uncertain significance rs201320385 NCBI36 Chromosome 1, 201453573: 201453573
10 CHIT1 NM_003465.2(CHIT1): c.*782C> T single nucleotide variant Uncertain significance rs192633567 GRCh37 Chromosome 1, 203185235: 203185235
11 CHIT1 NM_003465.2(CHIT1): c.*782C> T single nucleotide variant Uncertain significance rs192633567 GRCh38 Chromosome 1, 203216107: 203216107
12 CHIT1 NM_003465.2(CHIT1): c.*599C> G single nucleotide variant Uncertain significance rs376701295 GRCh37 Chromosome 1, 203185418: 203185418
13 CHIT1 NM_003465.2(CHIT1): c.*599C> G single nucleotide variant Uncertain significance rs376701295 GRCh38 Chromosome 1, 203216290: 203216290
14 CHIT1 NM_003465.2(CHIT1): c.1325C> G (p.Ala442Gly) single nucleotide variant Benign/Likely benign rs1065761 GRCh37 Chromosome 1, 203186093: 203186093
15 CHIT1 NM_003465.2(CHIT1): c.1325C> G (p.Ala442Gly) single nucleotide variant Benign/Likely benign rs1065761 GRCh38 Chromosome 1, 203216965: 203216965
16 CHIT1 NM_003465.2(CHIT1): c.1281C> G (p.Leu427=) single nucleotide variant Uncertain significance rs886045832 GRCh37 Chromosome 1, 203186137: 203186137
17 CHIT1 NM_003465.2(CHIT1): c.1281C> G (p.Leu427=) single nucleotide variant Uncertain significance rs886045832 GRCh38 Chromosome 1, 203217009: 203217009
18 CHIT1 NM_003465.2(CHIT1): c.1155_1156+2delGAGT deletion Conflicting interpretations of pathogenicity rs143439055 GRCh38 Chromosome 1, 203217737: 203217740
19 CHIT1 NM_003465.2(CHIT1): c.1155_1156+2delGAGT deletion Conflicting interpretations of pathogenicity rs143439055 GRCh37 Chromosome 1, 203186865: 203186868
20 CHIT1 NM_003465.2(CHIT1): c.1076C> G (p.Ala359Gly) single nucleotide variant Uncertain significance rs201682373 GRCh38 Chromosome 1, 203217819: 203217819
21 CHIT1 NM_003465.2(CHIT1): c.1076C> G (p.Ala359Gly) single nucleotide variant Uncertain significance rs201682373 GRCh37 Chromosome 1, 203186947: 203186947
22 CHIT1 NM_003465.2(CHIT1): c.1049_1072dup24 (p.Trp358_Asn466del) duplication Benign/Likely benign rs150192398 GRCh38 Chromosome 1, 203217823: 203217846
23 CHIT1 NM_003465.2(CHIT1): c.1049_1072dup24 (p.Trp358_Asn466del) duplication Benign/Likely benign rs150192398 GRCh37 Chromosome 1, 203186951: 203186974
24 CHIT1 NM_003465.2(CHIT1): c.422A> C (p.Tyr141Ser) single nucleotide variant Uncertain significance rs183706407 GRCh38 Chromosome 1, 203223553: 203223553
25 CHIT1 NM_003465.2(CHIT1): c.422A> C (p.Tyr141Ser) single nucleotide variant Uncertain significance rs183706407 GRCh37 Chromosome 1, 203192681: 203192681
26 CHIT1 NM_003465.2(CHIT1): c.400G> A (p.Gly134Ser) single nucleotide variant Uncertain significance rs374580719 GRCh38 Chromosome 1, 203223575: 203223575
27 CHIT1 NM_003465.2(CHIT1): c.400G> A (p.Gly134Ser) single nucleotide variant Uncertain significance rs374580719 GRCh37 Chromosome 1, 203192703: 203192703
28 CHIT1 NM_003465.2(CHIT1): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs377403883 GRCh38 Chromosome 1, 203223593: 203223593
29 CHIT1 NM_003465.2(CHIT1): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs377403883 GRCh37 Chromosome 1, 203192721: 203192721
30 CHIT1 NM_003465.2(CHIT1): c.56-6G> A single nucleotide variant Uncertain significance rs190551025 GRCh38 Chromosome 1, 203225876: 203225876
31 CHIT1 NM_003465.2(CHIT1): c.56-6G> A single nucleotide variant Uncertain significance rs190551025 GRCh37 Chromosome 1, 203195004: 203195004
32 CHIT1 NM_003465.2(CHIT1): c.56-8C> T single nucleotide variant Uncertain significance rs116389839 GRCh38 Chromosome 1, 203225878: 203225878
33 CHIT1 NM_003465.2(CHIT1): c.56-8C> T single nucleotide variant Uncertain significance rs116389839 GRCh37 Chromosome 1, 203195006: 203195006
34 CHIT1 NM_003465.2(CHIT1): c.26-4C> A single nucleotide variant Uncertain significance rs753899130 GRCh37 Chromosome 1, 203197694: 203197694
35 CHIT1 NM_003465.2(CHIT1): c.26-4C> A single nucleotide variant Uncertain significance rs753899130 GRCh38 Chromosome 1, 203228566: 203228566
36 CHIT1 NM_003465.2(CHIT1): c.-13G> A single nucleotide variant Uncertain significance rs370076959 GRCh37 Chromosome 1, 203198777: 203198777
37 CHIT1 NM_003465.2(CHIT1): c.-13G> A single nucleotide variant Uncertain significance rs370076959 GRCh38 Chromosome 1, 203229649: 203229649
38 CHIT1 NM_003465.2(CHIT1): c.*534T> G single nucleotide variant Likely benign rs73066394 GRCh37 Chromosome 1, 203185483: 203185483
39 CHIT1 NM_003465.2(CHIT1): c.*534T> G single nucleotide variant Likely benign rs73066394 GRCh38 Chromosome 1, 203216355: 203216355
40 CHIT1 NM_003465.2(CHIT1): c.*280G> C single nucleotide variant Uncertain significance rs140728916 GRCh37 Chromosome 1, 203185737: 203185737
41 CHIT1 NM_003465.2(CHIT1): c.*280G> C single nucleotide variant Uncertain significance rs140728916 GRCh38 Chromosome 1, 203216609: 203216609
42 CHIT1 NM_003465.2(CHIT1): c.*124A> C single nucleotide variant Uncertain significance rs761217387 GRCh37 Chromosome 1, 203185893: 203185893
43 CHIT1 NM_003465.2(CHIT1): c.*124A> C single nucleotide variant Uncertain significance rs761217387 GRCh38 Chromosome 1, 203216765: 203216765
44 CHIT1 NM_003465.2(CHIT1): c.*99G> A single nucleotide variant Uncertain significance rs770846687 GRCh37 Chromosome 1, 203185918: 203185918
45 CHIT1 NM_003465.2(CHIT1): c.*99G> A single nucleotide variant Uncertain significance rs770846687 GRCh38 Chromosome 1, 203216790: 203216790
46 CHIT1 NM_003465.2(CHIT1): c.1351C> T (p.Pro451Ser) single nucleotide variant Uncertain significance rs141079733 GRCh37 Chromosome 1, 203186067: 203186067
47 CHIT1 NM_003465.2(CHIT1): c.1351C> T (p.Pro451Ser) single nucleotide variant Uncertain significance rs141079733 GRCh38 Chromosome 1, 203216939: 203216939
48 CHIT1 NM_003465.2(CHIT1): c.1265G> A (p.Gly422Asp) single nucleotide variant Uncertain significance rs144422918 GRCh37 Chromosome 1, 203186153: 203186153
49 CHIT1 NM_003465.2(CHIT1): c.1265G> A (p.Gly422Asp) single nucleotide variant Uncertain significance rs144422918 GRCh38 Chromosome 1, 203217025: 203217025
50 CHIT1 NM_003465.2(CHIT1): c.1156+4A> G single nucleotide variant Uncertain significance rs2297947 GRCh37 Chromosome 1, 203186863: 203186863

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....