MCID: LKT001
MIFTS: 16

Leukotriene C4 Synthase Deficiency

Categories: Metabolic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Leukotriene C4 Synthase Deficiency

MalaCards integrated aliases for Leukotriene C4 Synthase Deficiency:

Name: Leukotriene C4 Synthase Deficiency 57 58 38 71 75
Hypotonia-Failure to Thrive-Microcephaly Syndrome 58 28
Ltc4 Synthase Deficiency 57 58

Characteristics:


Inheritance:

Leukotriene C4 Synthase Deficiency: Autosomal recessive 57
Hypotonia-Failure to Thrive-Microcephaly Syndrome: Autosomal recessive 58

Prevelance:

Hypotonia-Failure to Thrive-Microcephaly Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypotonia-Failure to Thrive-Microcephaly Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 614037
ICD10 via Orphanet 32 E88.8
UMLS via Orphanet 72 C3279662
Orphanet 58 ORPHA79507
MedGen 40 C3279662
UMLS 71 C3279662

Summaries for Leukotriene C4 Synthase Deficiency

Orphanet: 58 Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

MalaCards based summary: Leukotriene C4 Synthase Deficiency, is also known as hypotonia-failure to thrive-microcephaly syndrome. An important gene associated with Leukotriene C4 Synthase Deficiency is LTC4S (Leukotriene C4 Synthase). Related phenotypes are hypotonia and global developmental delay

Wikipedia: 75 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotonia 30 HP:0001252
2 global developmental delay 30 HP:0001263
3 microcephaly 30 HP:0000252
4 failure to thrive in infancy 30 HP:0001531
5 reduced circulating leukotriene c4 concentration 30 HP:0030390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
leukotriene c4 synthetase deficiency

Clinical features from OMIM®:

614037 (Updated 08-Dec-2022)

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 Hypotonia-Failure to Thrive-Microcephaly Syndrome 28 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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....