CHITD
MCID: CHT005
MIFTS: 24

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 prostate, lung 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 91)
# 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 sarcoidosis 1 10.2
6 beta-thalassemia 10.2
7 thalassemia 10.2
8 amyotrophic lateral sclerosis 1 10.1
9 lateral sclerosis 10.1
10 alzheimer disease 10.1
11 intermittent claudication 10.1
12 asthma 10.0
13 malaria 10.0
14 liver disease 10.0
15 nonalcoholic fatty liver disease 10.0
16 lung disease 10.0
17 fatty liver disease 10.0
18 bowenoid papulosis 10.0
19 arteries, anomalies of 9.9
20 osteoporosis 9.9
21 cystinosis, nephropathic 9.9
22 glycogen storage disease iv 9.9
23 familial mediterranean fever 9.9
24 niemann-pick disease, type a 9.9
25 pulmonary disease, chronic obstructive 9.9
26 coronary artery anomaly 9.9
27 diabetes mellitus 9.9
28 glycogen storage disease 9.9
29 lysosomal storage disease 9.9
30 cystinosis 9.9
31 plasmodium falciparum malaria 9.9
32 pulmonary tuberculosis 9.9
33 ischemia 9.9
34 glycogen storage disease due to glycogen branching enzyme deficiency 9.9
35 amyloidosis 9.9
36 spondyloarthropathy 1 9.8
37 breast cancer 9.8
38 ige responsiveness, atopic 9.8
39 prostate cancer 9.8
40 lung cancer 9.8
41 krabbe disease 9.8
42 leprosy 3 9.8
43 niemann-pick disease, type c1 9.8
44 polycythemia vera 9.8
45 adrenoleukodystrophy 9.8
46 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8
47 aging 9.8
48 prostatic hyperplasia, benign 9.8
49 prostate cancer, hereditary, 8 9.8
50 allergic rhinitis 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
Prostate, Lung, Liver

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
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. ( 17464953 )
2007
8
Chitotriosidase deficiency in survivors of Candida sepsis. ( 12482412 )
2002
9
The human chitotriosidase gene. Nature of inherited enzyme deficiency. ( 9748235 )
1998
10
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. ( 8972767 )
1996

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 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_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 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 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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