MCID: LKT001
MIFTS: 27

Leukotriene C4 Synthase Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Leukotriene C4 Synthase Deficiency

MalaCards integrated aliases for Leukotriene C4 Synthase Deficiency:

Name: Leukotriene C4 Synthase Deficiency 57 59 29 13 40 73
Ltc4 Synthase Deficiency 57 59
Hypotonia-Failure to Thrive-Microcephaly Syndrome 59
Leukotriene C4 Synthase 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
leukotriene c4 synthase deficiency:
Inheritance autosomal recessive inheritance
Mortality/Aging death in infancy


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 614037
Orphanet 59 ORPHA79507
UMLS via Orphanet 74 C3279662
MedGen 42 C3279662
UMLS 73 C3279662

Summaries for Leukotriene C4 Synthase Deficiency

MalaCards based summary : Leukotriene C4 Synthase Deficiency, also known as ltc4 synthase deficiency, is related to asthma and osteoarthritis. An important gene associated with Leukotriene C4 Synthase Deficiency is LTC4S (Leukotriene C4 Synthase). Affiliated tissues include neutrophil, monocytes and myeloid, and related phenotypes are microcephaly and muscular hypotonia

Wikipedia : 76 Leukotriene C4 synthase deficiency is an inborn error of... more...

Description from OMIM: 614037

Related Diseases for Leukotriene C4 Synthase Deficiency

Diseases related to Leukotriene C4 Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 asthma 10.5
2 osteoarthritis 10.4
3 aortic aneurysm, familial abdominal, 1 9.9
4 allergic rhinitis 9.9
5 leukemia 9.9
6 sinusitis 9.9
7 urticaria 9.9
8 aortic aneurysm 9.9
9 rhinitis 9.9
10 cerebrovascular disease 9.9
11 myeloid leukemia 9.9
12 aneurysm 9.9

Graphical network of the top 20 diseases related to Leukotriene C4 Synthase Deficiency:



Diseases related to Leukotriene C4 Synthase Deficiency

Symptoms & Phenotypes for Leukotriene C4 Synthase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
leukotriene c4 synthetase deficiency


Clinical features from OMIM:

614037

Human phenotypes related to Leukotriene C4 Synthase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 muscular hypotonia 32 HP:0001252
3 global developmental delay 32 HP:0001263
4 failure to thrive in infancy 32 HP:0001531

Drugs & Therapeutics for Leukotriene C4 Synthase Deficiency

Search Clinical Trials , NIH Clinical Center for Leukotriene C4 Synthase Deficiency

Genetic Tests for Leukotriene C4 Synthase Deficiency

Genetic tests related to Leukotriene C4 Synthase Deficiency:

# Genetic test Affiliating Genes
1 Leukotriene C4 Synthase Deficiency 29 LTC4S

Anatomical Context for Leukotriene C4 Synthase Deficiency

MalaCards organs/tissues related to Leukotriene C4 Synthase Deficiency:

41
Neutrophil, Monocytes, Myeloid, Lung

Publications for Leukotriene C4 Synthase Deficiency

Articles related to Leukotriene C4 Synthase Deficiency:

(show top 50) (show all 81)
# Title Authors Year
1
Phosphorylation of Leukotriene C4 Synthase at Serine 36 Impairs Catalytic Activity. ( 27365393 )
2016
2
Crystal structures of leukotriene C4 synthase in complex with product analogs: implications for the enzyme mechanism. ( 24366866 )
2014
3
Elevated levels of leukotriene C4 synthase mRNA distinguish a subpopulation of eosinophilic oesophagitis patients. ( 23889244 )
2013
4
The catalytic architecture of leukotriene C4 synthase with two arginine residues. ( 21454538 )
2011
5
Seleno-detergent MAD phasing of leukotriene C4 synthase in complex with dodecyl-I^-D-selenomaltoside. ( 22139193 )
2011
6
Novel mutations in leukotriene C4 synthase and risk of cardiovascular disease based on genotypes from 50,000 individuals. ( 20456754 )
2010
7
Arginine 104 is a key catalytic residue in leukotriene C4 synthase. ( 20980252 )
2010
8
Increased expression of leukotriene C4 synthase and predominant formation of cysteinyl-leukotrienes in human abdominal aortic aneurysm. ( 21078989 )
2010
9
The A-444C polymorphism in the leukotriene C4 synthase gene is associated with aspirin-induced urticaria. ( 19862937 )
2009
10
Protective effects of asiatic acid against D-galactosamine/lipopolysaccharide-induced hepatotoxicity in hepatocytes and kupffer cells co-cultured system via redox-regulated leukotriene C4 synthase expression pathway. ( 19087874 )
2009
11
Leukotriene C4 synthase and ischemic cardiovascular disease and obstructive pulmonary disease in 13,000 individuals. ( 19280718 )
2009
12
Promotor polymorphisms in leukotriene C4 synthase and risk of ischemic cerebrovascular disease. ( 18276912 )
2008
13
TNF-alpha downregulates the leukotriene C4 synthase gene in mononuclear phagocytes. ( 16980379 )
2007
14
Responsiveness to montelukast is associated with bronchial hyperresponsiveness and total immunoglobulin E but not polymorphisms in the leukotriene C4 synthase and cysteinyl leukotriene receptor 1 genes in Korean children with exercise-induced asthma (EIA). ( 17883728 )
2007
15
Structural basis for synthesis of inflammatory mediators by human leukotriene C4 synthase. ( 17632546 )
2007
16
Association between a leukotriene C4 synthase gene promoter polymorphism and coronary artery calcium in young women: the Muscatine Study. ( 17110605 )
2007
17
The A-444C polymorphism of leukotriene C4 synthase gene is associated with IgE antibodies to Dermatophagoides pteronyssinus in a Colombian population. ( 17291864 )
2007
18
Lack of an association between a newly identified promoter polymorphism (-1702G > A) of the leukotriene C4 synthase gene and aspirin-intolerant asthma in a Korean population. ( 16340173 )
2006
19
Identification of regions of leukotriene C4 synthase which direct the enzyme to its nuclear envelope localization. ( 16552728 )
2006
20
Leukotriene C4 synthase A-444C gene polymorphism in patients with allergic rhinitis. ( 16730545 )
2006
21
The leukotriene C4 synthase (A-444C) promoter polymorphism is associated with the severity of exercise-induced asthma in Korean children. ( 16675353 )
2006
22
Expression of leukotriene C4 synthase and plasminogen activator inhibitor 1 gene promoter polymorphisms in sinusitis. ( 17063752 )
2006
23
Uncertain biologic relevance of polymorphisms of leukotriene C4 synthase in asthma. ( 15637573 )
2005
24
Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans. ( 16024972 )
2005
25
A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases. ( 16211251 )
2005
26
Inhibition of 5-lipoxygenase and leukotriene C4 synthase in human blood cells by thymoquinone. ( 15648658 )
2004
27
Characterization of two polymorphisms in the leukotriene C4 synthase gene in an Australian population of subjects with mild, moderate, and severe asthma. ( 15131571 )
2004
28
Leukotriene C4 synthase homo-oligomers detected in living cells by bioluminescence resonance energy transfer. ( 12880868 )
2003
29
Leukotriene C4 synthase polymorphisms and responsiveness to leukotriene antagonists in asthma. ( 12968987 )
2003
30
Leukotriene synthesis is increased by transcriptional up-regulation of 5-lipoxygenase, leukotriene A4 hydrolase, and leukotriene C4 synthase in asthmatic children. ( 12765316 )
2003
31
Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma. ( 12728163 )
2003
32
Inverse relationship between myeloid maturation and leukotriene C4 synthase expression in normal and leukemic myelopoiesis-consistent overexpression of the enzyme in myeloid cells from patients with chronic myeloid leukemia. ( 12591277 )
2003
33
Leukotriene C4 synthase promoter polymorphism in Japanese patients with aspirin-induced asthma. ( 12063521 )
2002
34
Regulation of leukotriene C4 synthase gene expression by SP1 and SP3 in mononuclear phagocytes. ( 12664565 )
2002
35
Membrane localization and topology of leukotriene C4 synthase. ( 12023288 )
2002
36
Uncoupled regulation of leukotriene C4 synthase in platelets from aspirin-intolerant asthmatics and healthy volunteers after aspirin treatment. ( 12569976 )
2002
37
Leukotriene C4 synthase gene A(-444)C polymorphism and clinical response to a CYS-LT(1) antagonist, pranlukast, in Japanese patients with moderate asthma. ( 12360108 )
2002
38
Leukotriene C4 synthase polymorphism and aspirin-induced asthma. ( 11240968 )
2001
39
Fluorogenic probes to detect the A(-444)C transversion in the leukotriene C4 synthase promoter. ( 10973883 )
2000
40
Leukotriene C4 synthase. A pivotal enzyme in the biosynthesis of the cysteinyl leukotrienes. ( 10673220 )
2000
41
5' flanking region polymorphism of the gene encoding leukotriene C4 synthase does not correlate with the aspirin-intolerant asthma phenotype in the United States. ( 10887308 )
2000
42
A random rapid equilibrium mechanism for leukotriene C4 synthase. ( 10667349 )
1999
43
TGF-beta increases leukotriene C4 synthase expression in the monocyte-like cell line, THP-1. ( 9916739 )
1999
44
The biochemical, molecular, and genomic aspects of leukotriene C4 synthase. ( 10591082 )
1999
45
Leukotriene C4 synthase: a candidate gene for the aspirin-intolerant asthmatic phenotype. ( 10624490 )
1999
46
Overexpression of leukotriene C4 synthase in bronchial biopsies from patients with aspirin-intolerant asthma. ( 9466979 )
1998
47
Leukotriene A4 hydrolase and leukotriene C4 synthase activities in human chondrocytes: transcellular biosynthesis of Leukotrienes during granulocyte-chondrocyte interaction. ( 9751098 )
1998
48
Kinetic mechanism of glutathione conjugation to leukotriene A4 by leukotriene C4 synthase. ( 9554994 )
1998
49
Novel enzymatic abnormalities in AML and CML in blast crisis: elevated leucocyte leukotriene C4 synthase activity paralleled by deficient leukotriene biosynthesis from endogenous substrate. ( 9674747 )
1998
50
Leukotriene C4 synthase: a critical enzyme for the biosynthesis of SRS-A. ( 9230064 )
1997

Variations for Leukotriene C4 Synthase Deficiency

Expression for Leukotriene C4 Synthase Deficiency

Search GEO for disease gene expression data for Leukotriene C4 Synthase Deficiency.

Pathways for Leukotriene C4 Synthase Deficiency

GO Terms for Leukotriene C4 Synthase Deficiency

Sources for Leukotriene C4 Synthase Deficiency

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