MCID: CHT005
MIFTS: 19

Chitotriosidase Deficiency

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).

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 28.4 CHIT1 GBA
2 gaucher's disease 28.1 CHIT1 GBA
3 gaucher disease, type iii 11.0
4 ancylostomiasis 9.7
5 amyloidosis 9.7
6 type i 9.7
7 ankylostomiasis 9.7
8 gaucher disease, type i 9.3 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:

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

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

ClinVar genetic disease variations for Chitotriosidase Deficiency:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHIT1 NM_003465.2(CHIT1): c.*782C> T single nucleotide variant Uncertain significance rs192633567 GRCh37 Chromosome 1, 203185235: 203185235
2 CHIT1 NM_003465.2(CHIT1): c.*782C> T single nucleotide variant Uncertain significance rs192633567 GRCh38 Chromosome 1, 203216107: 203216107
3 CHIT1 NM_003465.2(CHIT1): c.*599C> G single nucleotide variant Uncertain significance rs376701295 GRCh37 Chromosome 1, 203185418: 203185418
4 CHIT1 NM_003465.2(CHIT1): c.*599C> G single nucleotide variant Uncertain significance rs376701295 GRCh38 Chromosome 1, 203216290: 203216290
5 CHIT1 NM_003465.2(CHIT1): c.1325C> G (p.Ala442Gly) single nucleotide variant Likely benign rs1065761 GRCh37 Chromosome 1, 203186093: 203186093
6 CHIT1 NM_003465.2(CHIT1): c.1325C> G (p.Ala442Gly) single nucleotide variant Likely benign rs1065761 GRCh38 Chromosome 1, 203216965: 203216965
7 CHIT1 NM_003465.2(CHIT1): c.1281C> G (p.Leu427=) single nucleotide variant Uncertain significance rs886045832 GRCh37 Chromosome 1, 203186137: 203186137
8 CHIT1 NM_003465.2(CHIT1): c.1281C> G (p.Leu427=) single nucleotide variant Uncertain significance rs886045832 GRCh38 Chromosome 1, 203217009: 203217009
9 CHIT1 NM_003465.2(CHIT1): c.1155_1156+2delGAGT deletion Conflicting interpretations of pathogenicity rs143439055 GRCh38 Chromosome 1, 203217737: 203217740
10 CHIT1 NM_003465.2(CHIT1): c.1155_1156+2delGAGT deletion Conflicting interpretations of pathogenicity rs143439055 GRCh37 Chromosome 1, 203186865: 203186868
11 CHIT1 NM_003465.2(CHIT1): c.1076C> G (p.Ala359Gly) single nucleotide variant Uncertain significance rs201682373 GRCh37 Chromosome 1, 203186947: 203186947
12 CHIT1 NM_003465.2(CHIT1): c.1076C> G (p.Ala359Gly) single nucleotide variant Uncertain significance rs201682373 GRCh38 Chromosome 1, 203217819: 203217819
13 CHIT1 NM_003465.2(CHIT1): c.1049_1072dup24 (p.Trp358_Asn466del) duplication Benign/Likely benign rs150192398 GRCh38 Chromosome 1, 203217823: 203217846
14 CHIT1 NM_003465.2(CHIT1): c.1049_1072dup24 (p.Trp358_Asn466del) duplication Benign/Likely benign rs150192398 GRCh37 Chromosome 1, 203186951: 203186974
15 CHIT1 NM_003465.2(CHIT1): c.422A> C (p.Tyr141Ser) single nucleotide variant Uncertain significance rs183706407 GRCh38 Chromosome 1, 203223553: 203223553
16 CHIT1 NM_003465.2(CHIT1): c.422A> C (p.Tyr141Ser) single nucleotide variant Uncertain significance rs183706407 GRCh37 Chromosome 1, 203192681: 203192681
17 CHIT1 NM_003465.2(CHIT1): c.400G> A (p.Gly134Ser) single nucleotide variant Uncertain significance rs374580719 GRCh38 Chromosome 1, 203223575: 203223575
18 CHIT1 NM_003465.2(CHIT1): c.400G> A (p.Gly134Ser) single nucleotide variant Uncertain significance rs374580719 GRCh37 Chromosome 1, 203192703: 203192703
19 CHIT1 NM_003465.2(CHIT1): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs377403883 GRCh38 Chromosome 1, 203223593: 203223593
20 CHIT1 NM_003465.2(CHIT1): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs377403883 GRCh37 Chromosome 1, 203192721: 203192721
21 CHIT1 NM_003465.2(CHIT1): c.56-6G> A single nucleotide variant Uncertain significance rs190551025 GRCh38 Chromosome 1, 203225876: 203225876
22 CHIT1 NM_003465.2(CHIT1): c.56-6G> A single nucleotide variant Uncertain significance rs190551025 GRCh37 Chromosome 1, 203195004: 203195004
23 CHIT1 NM_003465.2(CHIT1): c.56-8C> T single nucleotide variant Uncertain significance rs116389839 GRCh38 Chromosome 1, 203225878: 203225878
24 CHIT1 NM_003465.2(CHIT1): c.56-8C> T single nucleotide variant Uncertain significance rs116389839 GRCh37 Chromosome 1, 203195006: 203195006
25 CHIT1 NM_003465.2(CHIT1): c.26-4C> A single nucleotide variant Uncertain significance rs753899130 GRCh37 Chromosome 1, 203197694: 203197694
26 CHIT1 NM_003465.2(CHIT1): c.26-4C> A single nucleotide variant Uncertain significance rs753899130 GRCh38 Chromosome 1, 203228566: 203228566
27 CHIT1 NM_003465.2(CHIT1): c.-13G> A single nucleotide variant Uncertain significance rs370076959 GRCh37 Chromosome 1, 203198777: 203198777
28 CHIT1 NM_003465.2(CHIT1): c.-13G> A single nucleotide variant Uncertain significance rs370076959 GRCh38 Chromosome 1, 203229649: 203229649
29 CHIT1 NM_003465.2(CHIT1): c.*534T> G single nucleotide variant Likely benign rs73066394 GRCh37 Chromosome 1, 203185483: 203185483
30 CHIT1 NM_003465.2(CHIT1): c.*534T> G single nucleotide variant Likely benign rs73066394 GRCh38 Chromosome 1, 203216355: 203216355
31 CHIT1 NM_003465.2(CHIT1): c.*280G> C single nucleotide variant Uncertain significance rs140728916 GRCh37 Chromosome 1, 203185737: 203185737
32 CHIT1 NM_003465.2(CHIT1): c.*280G> C single nucleotide variant Uncertain significance rs140728916 GRCh38 Chromosome 1, 203216609: 203216609
33 CHIT1 NM_003465.2(CHIT1): c.*124A> C single nucleotide variant Uncertain significance rs761217387 GRCh37 Chromosome 1, 203185893: 203185893
34 CHIT1 NM_003465.2(CHIT1): c.*124A> C single nucleotide variant Uncertain significance rs761217387 GRCh38 Chromosome 1, 203216765: 203216765
35 CHIT1 NM_003465.2(CHIT1): c.*99G> A single nucleotide variant Uncertain significance rs770846687 GRCh37 Chromosome 1, 203185918: 203185918
36 CHIT1 NM_003465.2(CHIT1): c.*99G> A single nucleotide variant Uncertain significance rs770846687 GRCh38 Chromosome 1, 203216790: 203216790
37 CHIT1 NM_003465.2(CHIT1): c.1351C> T (p.Pro451Ser) single nucleotide variant Uncertain significance rs141079733 GRCh37 Chromosome 1, 203186067: 203186067
38 CHIT1 NM_003465.2(CHIT1): c.1351C> T (p.Pro451Ser) single nucleotide variant Uncertain significance rs141079733 GRCh38 Chromosome 1, 203216939: 203216939
39 CHIT1 NM_003465.2(CHIT1): c.1265G> A (p.Gly422Asp) single nucleotide variant Uncertain significance rs144422918 GRCh37 Chromosome 1, 203186153: 203186153
40 CHIT1 NM_003465.2(CHIT1): c.1265G> A (p.Gly422Asp) single nucleotide variant Uncertain significance rs144422918 GRCh38 Chromosome 1, 203217025: 203217025
41 CHIT1 NM_003465.2(CHIT1): c.1156+4A> G single nucleotide variant Uncertain significance rs2297947 GRCh37 Chromosome 1, 203186863: 203186863
42 CHIT1 NM_003465.2(CHIT1): c.1156+4A> G single nucleotide variant Uncertain significance rs2297947 GRCh38 Chromosome 1, 203217735: 203217735
43 CHIT1 NM_003465.2(CHIT1): c.807C> T (p.Arg269=) single nucleotide variant Uncertain significance rs560698644 GRCh38 Chromosome 1, 203219772: 203219772
44 CHIT1 NM_003465.2(CHIT1): c.807C> T (p.Arg269=) single nucleotide variant Uncertain significance rs560698644 GRCh37 Chromosome 1, 203188900: 203188900
45 CHIT1 NM_003465.2(CHIT1): c.605+10A> T single nucleotide variant Uncertain significance rs368307246 GRCh37 Chromosome 1, 203192253: 203192253
46 CHIT1 NM_003465.2(CHIT1): c.605+10A> T single nucleotide variant Uncertain significance rs368307246 GRCh38 Chromosome 1, 203223125: 203223125
47 CHIT1 NM_003465.2(CHIT1): c.383G> A (p.Arg128His) single nucleotide variant Uncertain significance rs772756608 GRCh38 Chromosome 1, 203223592: 203223592
48 CHIT1 NM_003465.2(CHIT1): c.383G> A (p.Arg128His) single nucleotide variant Uncertain significance rs772756608 GRCh37 Chromosome 1, 203192720: 203192720
49 CHIT1 NM_003465.2(CHIT1): c.366G> A (p.Ser122=) single nucleotide variant Uncertain significance rs367910344 GRCh38 Chromosome 1, 203223609: 203223609
50 CHIT1 NM_003465.2(CHIT1): c.366G> A (p.Ser122=) single nucleotide variant Uncertain significance rs367910344 GRCh37 Chromosome 1, 203192737: 203192737

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
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