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 57 29 6 39 70
Chitd 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
'nondisease'


HPO:

31
chitotriosidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614122
MedGen 41 C3279902
SNOMED-CT via HPO 68 258211005
UMLS 70 C3279902

Summaries for Chitotriosidase Deficiency

MalaCards based summary : Chitotriosidase Deficiency, also known as chitd, is related to gaucher's disease and gaucher disease, type i. An important gene associated with Chitotriosidase Deficiency is CHIT1 (Chitinase 1). Affiliated tissues include brain.

More information from OMIM: 614122

Related Diseases for Chitotriosidase Deficiency

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 29.7 GBA CHIT1
2 gaucher disease, type i 29.5 GBA CHIT1
3 niemann-pick disease 29.5 GBA CHIT1
4 pick disease of brain 9.9
5 malaria 9.9
6 filariasis 9.9
7 amyloidosis 9.9
8 gaucher disease, type ii 9.8 GBA CHIT1
9 niemann-pick disease, type a 9.8 GBA CHIT1
10 splenomegaly 9.8 GBA CHIT1
11 gm1 gangliosidosis 9.8 GBA CHIT1
12 krabbe disease 9.8 GBA CHIT1
13 sphingolipidosis 9.8 GBA CHIT1
14 tay-sachs disease 9.7 GBA CHIT1
15 mucopolysaccharidosis-plus syndrome 9.7 GBA CHIT1
16 fabry disease 9.7 GBA CHIT1
17 lipid storage disease 9.7 GBA CHIT1
18 lysosomal storage disease 9.6 GBA CHIT1
19 hemochromatosis, type 1 9.6 GBA CHIT1
20 deficiency anemia 9.5 GBA CHIT1

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 (Updated 20-May-2021)
Laboratory Abnormalities:
no detectable chitotriosidase activity

Clinical features from OMIM®:

614122 (Updated 20-May-2021)

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:

40
Brain

Publications for Chitotriosidase Deficiency

Articles related to Chitotriosidase Deficiency:

(show all 17)
# Title Authors PMID Year
1
The human chitotriosidase gene. Nature of inherited enzyme deficiency. 61 57 6
9748235 1998
2
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. 6 57
17464953 2007
3
Elevated plasma chitotriosidase activity in various lysosomal storage disorders. 57
8750610 1995
4
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. 57
8132768 1994
5
[Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease]. 61
33142401 2020
6
Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene. 61
27129798 2016
7
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India. 61
26975750 2016
8
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. 61
25256524 2014
9
Chitotriosidase deficiency: a mutation update in an african population. 61
23430794 2013
10
Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes. 61
20178893 2010
11
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. 61
19819171 2010
12
Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population. 61
17765019 2007
13
Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. 61
17693102 2007
14
Plasma chitotriosidase activity in acute Plasmodium falciparum malaria. 61
12691867 2003
15
Chitotriosidase deficiency in survivors of Candida sepsis. 61
12482412 2002
16
Thaumatin-like proteins and chitinases, the haze-forming proteins of wine, accumulate during ripening of grape (Vitis vinifera) berries and drought stress does not affect the final levels per berry at maturity. 61
10820071 2000
17
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. 61
8972767 1996

Variations for Chitotriosidase Deficiency

ClinVar genetic disease variations for Chitotriosidase Deficiency:

6 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHIT1 CHIT1, 24-BP DUP Duplication Affects 9523 GRCh37:
GRCh38:
2 CHIT1 CHIT1, GLY354ARG, LEU385LEU, AND 4-BP DEL Deletion Affects 9524 GRCh37:
GRCh38:
3 CHIT1 NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys) SNV Conflicting interpretations of pathogenicity 9525 rs137852607 GRCh37: 1:203194834-203194834
GRCh38: 1:203225706-203225706
4 CHIT1 NM_003465.3(CHIT1):c.56-8C>T SNV Conflicting interpretations of pathogenicity 294940 rs116389839 GRCh37: 1:203195006-203195006
GRCh38: 1:203225878-203225878
5 CHIT1 NM_003465.3(CHIT1):c.1155_1156+2del Deletion Conflicting interpretations of pathogenicity 294917 rs143439055 GRCh37: 1:203186865-203186868
GRCh38: 1:203217737-203217740
6 CHIT1 NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser) SNV Conflicting interpretations of pathogenicity 294938 rs146692911 GRCh37: 1:203194965-203194965
GRCh38: 1:203225837-203225837
7 CHIT1 NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser) SNV Conflicting interpretations of pathogenicity 294909 rs141079733 GRCh37: 1:203186067-203186067
GRCh38: 1:203216939-203216939
8 CHIT1 NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val) SNV Conflicting interpretations of pathogenicity 472286 rs1065761 GRCh37: 1:203186093-203186093
GRCh38: 1:203216965-203216965
9 CHIT1 NM_003465.3(CHIT1):c.314+1G>T SNV Uncertain significance 631588 rs201510066 GRCh37: 1:203194175-203194175
GRCh38: 1:203225047-203225047
10 CHIT1 NM_003465.3(CHIT1):c.838A>T (p.Arg280Ter) SNV Uncertain significance 632098 rs745573331 GRCh37: 1:203188869-203188869
GRCh38: 1:203219741-203219741
11 CHIT1 NM_003465.3(CHIT1):c.605+1G>A SNV Uncertain significance 632099 rs1558161210 GRCh37: 1:203192262-203192262
GRCh38: 1:203223134-203223134
12 CHIT1 NM_003465.3(CHIT1):c.*99G>A SNV Uncertain significance 294906 rs770846687 GRCh37: 1:203185918-203185918
GRCh38: 1:203216790-203216790
13 CHIT1 NM_003465.3(CHIT1):c.807C>T (p.Arg269=) SNV Uncertain significance 294922 rs560698644 GRCh37: 1:203188900-203188900
GRCh38: 1:203219772-203219772
14 CHIT1 NM_003465.3(CHIT1):c.1265G>A (p.Gly422Asp) SNV Uncertain significance 294914 rs144422918 GRCh37: 1:203186153-203186153
GRCh38: 1:203217025-203217025
15 CHIT1 NM_003465.3(CHIT1):c.107_108del (p.Gln36fs) Deletion Uncertain significance 294937 rs756858939 GRCh37: 1:203194946-203194947
GRCh38: 1:203225818-203225819
16 CHIT1 NM_003465.3(CHIT1):c.*280G>C SNV Uncertain significance 294903 rs140728916 GRCh37: 1:203185737-203185737
GRCh38: 1:203216609-203216609
17 CHIT1 NM_003465.3(CHIT1):c.*729T>C SNV Uncertain significance 294900 rs886045830 GRCh37: 1:203185288-203185288
GRCh38: 1:203216160-203216160
18 CHIT1 NM_003465.3(CHIT1):c.-13G>A SNV Uncertain significance 294944 rs370076959 GRCh37: 1:203198777-203198777
GRCh38: 1:203229649-203229649
19 CHIT1 NM_003465.3(CHIT1):c.55G>A (p.Gly19Ser) SNV Uncertain significance 294941 rs201347216 GRCh37: 1:203197661-203197661
GRCh38: 1:203228533-203228533
20 CHIT1 NM_003465.3(CHIT1):c.605+10A>T SNV Uncertain significance 294925 rs368307246 GRCh37: 1:203192253-203192253
GRCh38: 1:203223125-203223125
21 CHIT1 NM_003465.3(CHIT1):c.480+12C>T SNV Uncertain significance 294928 rs201180236 GRCh37: 1:203192611-203192611
GRCh38: 1:203223483-203223483
22 CHIT1 NM_003465.3(CHIT1):c.346C>T (p.Arg116Cys) SNV Uncertain significance 294934 rs780332677 GRCh37: 1:203192757-203192757
GRCh38: 1:203223629-203223629
23 CHIT1 NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln) SNV Uncertain significance 294912 rs202003206 GRCh37: 1:203186123-203186123
GRCh38: 1:203216995-203216995
24 CHIT1 NM_003465.3(CHIT1):c.383G>A (p.Arg128His) SNV Uncertain significance 294931 rs772756608 GRCh37: 1:203192720-203192720
GRCh38: 1:203223592-203223592
25 CHIT1 NM_003465.2(CHIT1):c.-71G>A SNV Uncertain significance 294947 rs11800196 GRCh37: 1:203198835-203198835
GRCh38: 1:203229707-203229707
26 CHIT1 NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn) SNV Uncertain significance 294921 rs140228721 GRCh37: 1:203186979-203186979
GRCh38: 1:203217851-203217851
27 CHIT1 NM_003465.3(CHIT1):c.1076C>G (p.Ala359Gly) SNV Uncertain significance 294919 rs201682373 GRCh37: 1:203186947-203186947
GRCh38: 1:203217819-203217819
28 CHIT1 NM_003465.3(CHIT1):c.26-4C>A SNV Uncertain significance 294943 rs753899130 GRCh37: 1:203197694-203197694
GRCh38: 1:203228566-203228566
29 CHIT1 NM_003465.3(CHIT1):c.*782C>T SNV Uncertain significance 294899 rs192633567 GRCh37: 1:203185235-203185235
GRCh38: 1:203216107-203216107
30 CHIT1 NM_003465.3(CHIT1):c.*124A>C SNV Uncertain significance 294905 rs761217387 GRCh37: 1:203185893-203185893
GRCh38: 1:203216765-203216765
31 CHIT1 NM_003465.2(CHIT1):c.-54G>A SNV Uncertain significance 294946 rs772846697 GRCh37: 1:203198818-203198818
GRCh38: 1:203229690-203229690
32 CHIT1 NM_003465.3(CHIT1):c.400G>A (p.Gly134Ser) SNV Uncertain significance 294930 rs374580719 GRCh37: 1:203192703-203192703
GRCh38: 1:203223575-203223575
33 CHIT1 NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser) SNV Uncertain significance 294927 rs151004649 GRCh37: 1:203192360-203192360
GRCh38: 1:203223232-203223232
34 CHIT1 NM_003465.3(CHIT1):c.1309T>C (p.Phe437Leu) SNV Uncertain significance 294911 rs769451842 GRCh37: 1:203186109-203186109
GRCh38: 1:203216981-203216981
35 CHIT1 NM_003465.3(CHIT1):c.1352C>G (p.Pro451Arg) SNV Uncertain significance 294908 rs200995061 GRCh37: 1:203186066-203186066
GRCh38: 1:203216938-203216938
36 CHIT1 NM_003465.3(CHIT1):c.767C>T (p.Pro256Leu) SNV Uncertain significance 294924 rs182143561 GRCh37: 1:203188940-203188940
GRCh38: 1:203219812-203219812
37 CHIT1 NM_003465.3(CHIT1):c.366G>A (p.Ser122=) SNV Uncertain significance 294933 rs367910344 GRCh37: 1:203192737-203192737
GRCh38: 1:203223609-203223609
38 CHIT1 NM_003465.3(CHIT1):c.169G>A (p.Ala57Thr) SNV Uncertain significance 294936 rs200630872 GRCh37: 1:203194885-203194885
GRCh38: 1:203225757-203225757
39 CHIT1 NM_003465.3(CHIT1):c.1073G>A (p.Trp358Ter) SNV Uncertain significance 73491 rs201320385 GRCh37: 1:203186950-203186950
GRCh38: 1:203217822-203217822
40 CHIT1 NM_003465.3(CHIT1):c.1090G>A (p.Asp364Asn) SNV Uncertain significance 294918 rs770731880 GRCh37: 1:203186933-203186933
GRCh38: 1:203217805-203217805
41 CHIT1 NM_003465.3(CHIT1):c.*599C>G SNV Uncertain significance 294901 rs376701295 GRCh37: 1:203185418-203185418
GRCh38: 1:203216290-203216290
42 CHIT1 NM_003465.3(CHIT1):c.1161T>C (p.Leu387=) SNV Uncertain significance 294915 rs73066400 GRCh37: 1:203186257-203186257
GRCh38: 1:203217129-203217129
43 CHIT1 NM_003465.3(CHIT1):c.56-6G>A SNV Uncertain significance 294939 rs190551025 GRCh37: 1:203195004-203195004
GRCh38: 1:203225876-203225876
44 CHIT1 NM_003465.3(CHIT1):c.*57C>T SNV Uncertain significance 294907 rs886045831 GRCh37: 1:203185960-203185960
GRCh38: 1:203216832-203216832
45 CHIT1 NM_003465.3(CHIT1):c.*143A>G SNV Uncertain significance 294904 rs368913199 GRCh37: 1:203185874-203185874
GRCh38: 1:203216746-203216746
46 CHIT1 NM_003465.2(CHIT1):c.-77C>T SNV Uncertain significance 294948 rs375445198 GRCh37: 1:203198841-203198841
GRCh38: 1:203229713-203229713
47 CHIT1 NM_003465.2(CHIT1):c.-40G>A SNV Uncertain significance 294945 rs375531046 GRCh37: 1:203198804-203198804
GRCh38: 1:203229676-203229676
48 CHIT1 NM_003465.3(CHIT1):c.422A>C (p.Tyr141Ser) SNV Uncertain significance 294929 rs183706407 GRCh37: 1:203192681-203192681
GRCh38: 1:203223553-203223553
49 CHIT1 NM_003465.3(CHIT1):c.52T>C (p.Trp18Arg) SNV Uncertain significance 294942 rs886045833 GRCh37: 1:203197664-203197664
GRCh38: 1:203228536-203228536
50 CHIT1 NM_003465.3(CHIT1):c.549G>A (p.Ala183=) SNV Uncertain significance 294926 rs371464440 GRCh37: 1:203192319-203192319
GRCh38: 1:203223191-203223191

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 GBA CHIT1

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 GBA CHIT1

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 GBA CHIT1

Sources for Chitotriosidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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