MCID: LKT001
MIFTS: 17

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 58 36 29 13 6 39 70
Ltc4 Synthase Deficiency 57 58
Hypotonia-Failure to Thrive-Microcephaly Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
leukotriene c4 synthase deficiency:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 614037
KEGG 36 H02284
UMLS via Orphanet 71 C3279662
Orphanet 58 ORPHA79507
MedGen 41 C3279662
UMLS 70 C3279662

Summaries for Leukotriene C4 Synthase Deficiency

KEGG : 36 Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and the total absence of cysteinyl leukotrienes in body fluids.

MalaCards based summary : Leukotriene C4 Synthase Deficiency, is also known as ltc4 synthase deficiency. An important gene associated with Leukotriene C4 Synthase Deficiency is LTC4S (Leukotriene C4 Synthase), and among its related pathways/superpathways is Arachidonic acid metabolism. Related phenotypes are global developmental delay and microcephaly

Wikipedia : 73 Leukotriene C4 synthase deficiency is an inborn error of... more...

More information from OMIM: 614037

Related Diseases for Leukotriene C4 Synthase Deficiency

Symptoms & Phenotypes for Leukotriene C4 Synthase Deficiency

Human phenotypes related to Leukotriene C4 Synthase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 microcephaly 31 HP:0000252
3 failure to thrive in infancy 31 HP:0001531
4 hypotonia 31 HP:0001252
5 reduced circulating leukotriene c4 concentration 31 HP:0030390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
leukotriene c4 synthetase deficiency

Clinical features from OMIM®:

614037 (Updated 05-Apr-2021)

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

Publications for Leukotriene C4 Synthase Deficiency

Articles related to Leukotriene C4 Synthase Deficiency:

# Title Authors PMID Year
1
Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism. 57
10896305 2000
2
Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome. 57
9820300 1998

Variations for Leukotriene C4 Synthase Deficiency

ClinVar genetic disease variations for Leukotriene C4 Synthase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTC4S NM_145867.2(LTC4S):c.229+1G>A SNV Pathogenic 1027771 GRCh37: 5:179222858-179222858
GRCh38: 5:179795857-179795857
2 LTC4S NM_145867.2(LTC4S):c.311+1G>T SNV Pathogenic 1032473 GRCh37: 5:179223024-179223024
GRCh38: 5:179796023-179796023

Expression for Leukotriene C4 Synthase Deficiency

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

Pathways for Leukotriene C4 Synthase Deficiency

Pathways related to Leukotriene C4 Synthase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Arachidonic acid metabolism hsa00590

GO Terms for Leukotriene C4 Synthase Deficiency

Sources for Leukotriene C4 Synthase 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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