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 58 30 6 41 74
Chitotriosidase 13
Chitd 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
'nondisease'


HPO:

33
chitotriosidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614122
MedGen 43 C3279902
SNOMED-CT via HPO 70 258211005
UMLS 74 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, bone and liver.

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 79)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 29.2 CHIT1 GBA
2 gaucher's disease 29.0 CHIT1 GBA
3 gaucher disease, type iii 11.2
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 intermittent claudication 10.1
11 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 10.1
12 asthma 10.0
13 malaria 10.0
14 liver disease 10.0
15 nonalcoholic fatty liver disease 10.0
16 fatty liver disease 10.0
17 arteries, anomalies of 9.9
18 osteoporosis 9.9
19 sarcoidosis 1 9.9
20 cystinosis, nephropathic 9.9
21 familial mediterranean fever 9.9
22 niemann-pick disease, type a 9.9
23 pulmonary disease, chronic obstructive 9.9
24 coronary artery anomaly 9.9
25 diabetes mellitus 9.9
26 glycogen storage disease 9.9
27 cystinosis 9.9
28 brucellosis 9.9
29 plasmodium falciparum malaria 9.9
30 pulmonary tuberculosis 9.9
31 ischemia 9.9
32 lung disease 9.9
33 glycogen storage disease due to glycogen branching enzyme deficiency 9.9
34 amyloidosis 9.9
35 spondyloarthropathy 1 9.8
36 breast cancer 9.8
37 prostate cancer 9.8
38 lung cancer 9.8
39 krabbe disease 9.8
40 niemann-pick disease, type c1 9.8
41 polycythemia vera 9.8
42 adrenoleukodystrophy 9.8
43 aging 9.8
44 prostatic hyperplasia, benign 9.8
45 prostate cancer, hereditary, 8 9.8
46 allergic rhinitis 9.8
47 niemann-pick disease, type b 9.8
48 prostate cancer, hereditary, 6 9.8
49 arthritis 9.8
50 common variable immunodeficiency 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:

58
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 30 CHIT1

Anatomical Context for Chitotriosidase Deficiency

MalaCards organs/tissues related to Chitotriosidase Deficiency:

42
Lung, Bone, Liver, Breast, Ovary, Spinal Cord, Pancreas

Publications for Chitotriosidase Deficiency

Articles related to Chitotriosidase Deficiency:

(show top 50) (show all 100)
# Title Authors Year
1
Serum chitotriosidase and neopterin levels in patients with ankylosing spondylitis. ( 30854031 )
2019
2
Identification of Active Sarcoidosis Using Chitotriosidase and Angiotensin-Converting Enzyme. ( 30888491 )
2019
3
Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study. ( 30695688 )
2019
4
Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis. ( 30134252 )
2018
5
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
6
Chitotriosidase: shucking the role of microglia in amyotrophic lateral sclerosis. ( 29180539 )
2018
7
Serum chitotriosidase: a circulating biomarker in polycythemia vera. ( 29993340 )
2018
8
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight. ( 29530534 )
2018
9
Human Chitotriosidase Does Not Catabolize Hyaluronan. ( 29247734 )
2018
10
Chitotriosidase inhibits allergic asthmatic airways via regulation of TGF-β expression and Foxp3+ Treg cells. ( 29420850 )
2018
11
Chitinase mRNA Levels Determined by QPCR in Crab-Eating Monkey (Macaca fascicularis) Tissues: Species-Specific Expression of Acidic Mammalian Chitinase and Chitotriosidase. ( 29747453 )
2018
12
Regulation and Role of Chitotriosidase during Lung Infection with Klebsiella pneumoniae. ( 29891554 )
2018
13
Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders. ( 30205089 )
2018
14
Chitotriosidase enhances TGFβ-Smad signaling and uptake of β-amyloid in N9 microglia. ( 30248366 )
2018
15
Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients. ( 30301968 )
2018
16
Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease. ( 28319420 )
2017
17
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
18
Chitotriosidase as a novel biomarker of early atherosclerosis in hemodialysis patients. ( 27378685 )
2017
19
Serum chitotriosidase enzyme activity is closely related to HbA1c levels and the complications in patients with diabetes mellitus type 2. ( 28392356 )
2017
20
Chitotriosidase, a marker of innate immunity, is elevated in patients with primary breast cancer. ( 28582842 )
2017
21
Human Chitotriosidase: Catalytic Domain or Carbohydrate Binding Module, Who's Leading HCHT's Biological Function. ( 28584264 )
2017
22
In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase. ( 28736246 )
2017
23
Discovery of selective, orally bioavailable inhibitor of mouse chitotriosidase. ( 29292229 )
2017
24
Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene. ( 27129798 )
2016
25
Decreased Chitotriosidase Activity and Levels in Familial Mediterranean Fever. ( 27822927 )
2016
26
Verifying Sarcoidosis Activity: Chitotriosidase versus ACE in Sarcoidosis - a Case-control Study. ( 28670191 )
2016
27
Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers. ( 27843468 )
2016
28
Serum chitotriosidase in postmenopausal women with severe osteoporosis. ( 26243359 )
2016
29
Changes in glycosylation of human blood plasma chitotriosidase in patients with type 2 diabetes. ( 26494371 )
2016
30
Clinical use of plasma chitotriosidase in severe sepsis. ( 26550788 )
2016
31
Erratum to: Serum chitotriosidase in postmenopausal women with severe osteoporosis. ( 26786257 )
2016
32
Cerebrospinal fluid chitinase-3-like 2 and chitotriosidase are potential prognostic biomarkers in early multiple sclerosis. ( 26872061 )
2016
33
Immunomodulatory Effects of Chitotriosidase Enzyme. ( 26881065 )
2016
34
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India. ( 26975750 )
2016
35
Nasal Microbiome Composition Is Associated with Chitotriosidase (Chit1) Activity in Adult Hutterites. ( 27027937 )
2016
36
Chitotriosidase: A New Inflammatory Marker in Diabetic Complications. ( 27116685 )
2016
37
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
38
Increased chitotriosidase activity in plasma of patients with type 2 diabetes. ( 27695487 )
2016
39
Functional Properties of Mouse Chitotriosidase Expressed in the Periplasmic Space of Escherichia coli. ( 27716783 )
2016
40
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study. ( 25563799 )
2015
41
The effect of nonsurgical periodontal treatment on serum and saliva chitotriosidase activities in patients with periodontitis and coronary artery disease. ( 25565855 )
2015
42
Cord blood and consecutive chitotriosidase activity: Relationship to prematurity and early prognosis. ( 25367205 )
2015
43
Chitotriosidase in the Pathogenesis of Inflammation, Interstitial Lung Diseases and COPD. ( 25553258 )
2015
44
Chitin recognition via chitotriosidase promotes pathologic type-2 helper T cell responses to cryptococcal infection. ( 25764512 )
2015
45
Serum cystatin C and chitotriosidase in acute P-407 induced dyslipidemia: Can they serve as potential early biomarkers for atherosclerosis? ( 26129870 )
2015
46
The relationship between chitotriosidase activity and tuberculosis. ( 26418349 )
2015
47
Serum chitotriosidase levels in cancer patients undergoing high dose chemotherapy and stem cell transplantation. ( 26439039 )
2015
48
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. ( 25256524 )
2014
49
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. ( 24831585 )
2014
50
Prognostic value of plasma chitotriosidase activity in acute stroke patients. ( 24148838 )
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, GLY354ARG, LEU385LEU, AND 4-BP DEL deletion Affects
2 CHIT1 CHIT1, 24-BP DUP duplication 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 GRCh38 Chromosome 1, 203216107: 203216107
11 CHIT1 NM_003465.2(CHIT1): c.*782C> T single nucleotide variant Uncertain significance rs192633567 GRCh37 Chromosome 1, 203185235: 203185235
12 CHIT1 NM_003465.2(CHIT1): c.*599C> G single nucleotide variant Uncertain significance rs376701295 GRCh38 Chromosome 1, 203216290: 203216290
13 CHIT1 NM_003465.2(CHIT1): c.*599C> G single nucleotide variant Uncertain significance rs376701295 GRCh37 Chromosome 1, 203185418: 203185418
14 CHIT1 NM_003465.2(CHIT1): c.1325C> G (p.Ala442Gly) single nucleotide variant Benign/Likely benign rs1065761 GRCh38 Chromosome 1, 203216965: 203216965
15 CHIT1 NM_003465.2(CHIT1): c.1325C> G (p.Ala442Gly) single nucleotide variant Benign/Likely benign rs1065761 GRCh37 Chromosome 1, 203186093: 203186093
16 CHIT1 NM_003465.2(CHIT1): c.1281C> G (p.Leu427=) single nucleotide variant Uncertain significance rs886045832 GRCh38 Chromosome 1, 203217009: 203217009
17 CHIT1 NM_003465.2(CHIT1): c.1281C> G (p.Leu427=) single nucleotide variant Uncertain significance rs886045832 GRCh37 Chromosome 1, 203186137: 203186137
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_1072dup (p.Trp358_Asn466del) duplication Benign/Likely benign rs3831317 GRCh38 Chromosome 1, 203217823: 203217846
23 CHIT1 NM_003465.2(CHIT1): c.1049_1072dup (p.Trp358_Asn466del) duplication Benign/Likely benign rs3831317 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 GRCh38 Chromosome 1, 203228566: 203228566
35 CHIT1 NM_003465.2(CHIT1): c.26-4C> A single nucleotide variant Uncertain significance rs753899130 GRCh37 Chromosome 1, 203197694: 203197694
36 CHIT1 NM_003465.2(CHIT1): c.-13G> A single nucleotide variant Uncertain significance rs370076959 GRCh38 Chromosome 1, 203229649: 203229649
37 CHIT1 NM_003465.2(CHIT1): c.-13G> A single nucleotide variant Uncertain significance rs370076959 GRCh37 Chromosome 1, 203198777: 203198777
38 CHIT1 NM_003465.2(CHIT1): c.*534T> G single nucleotide variant Likely benign rs73066394 GRCh38 Chromosome 1, 203216355: 203216355
39 CHIT1 NM_003465.2(CHIT1): c.*534T> G single nucleotide variant Likely benign rs73066394 GRCh37 Chromosome 1, 203185483: 203185483
40 CHIT1 NM_003465.2(CHIT1): c.*280G> C single nucleotide variant Uncertain significance rs140728916 GRCh38 Chromosome 1, 203216609: 203216609
41 CHIT1 NM_003465.2(CHIT1): c.*280G> C single nucleotide variant Uncertain significance rs140728916 GRCh37 Chromosome 1, 203185737: 203185737
42 CHIT1 NM_003465.2(CHIT1): c.*124A> C single nucleotide variant Uncertain significance rs761217387 GRCh38 Chromosome 1, 203216765: 203216765
43 CHIT1 NM_003465.2(CHIT1): c.*124A> C single nucleotide variant Uncertain significance rs761217387 GRCh37 Chromosome 1, 203185893: 203185893
44 CHIT1 NM_003465.2(CHIT1): c.*99G> A single nucleotide variant Uncertain significance rs770846687 GRCh38 Chromosome 1, 203216790: 203216790
45 CHIT1 NM_003465.2(CHIT1): c.*99G> A single nucleotide variant Uncertain significance rs770846687 GRCh37 Chromosome 1, 203185918: 203185918
46 CHIT1 NM_003465.2(CHIT1): c.1351C> T (p.Pro451Ser) single nucleotide variant Uncertain significance rs141079733 GRCh38 Chromosome 1, 203216939: 203216939
47 CHIT1 NM_003465.2(CHIT1): c.1351C> T (p.Pro451Ser) single nucleotide variant Uncertain significance rs141079733 GRCh37 Chromosome 1, 203186067: 203186067
48 CHIT1 NM_003465.2(CHIT1): c.1265G> A (p.Gly422Asp) single nucleotide variant Uncertain significance rs144422918 GRCh38 Chromosome 1, 203217025: 203217025
49 CHIT1 NM_003465.2(CHIT1): c.1265G> A (p.Gly422Asp) single nucleotide variant Uncertain significance rs144422918 GRCh37 Chromosome 1, 203186153: 203186153
50 CHIT1 NM_003465.2(CHIT1): c.1156+4A> G single nucleotide variant Uncertain significance rs2297947 GRCh38 Chromosome 1, 203217735: 203217735

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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