LFSS
MCID: LGH019
MIFTS: 29

Light Fixation Seizure Syndrome (LFSS)

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Aliases & Classifications for Light Fixation Seizure Syndrome

MalaCards integrated aliases for Light Fixation Seizure Syndrome:

Name: Light Fixation Seizure Syndrome 57 71
M Syndrome 57 53
Lfss 57

External Ids:

OMIM® 57 603530
MedGen 40 C1863767
UMLS 71 C1863767

Summaries for Light Fixation Seizure Syndrome

MalaCards based summary: Light Fixation Seizure Syndrome, also known as m syndrome, is related to cd40 ligand deficiency and immunodeficiency with hyper-igm, type 1. An important gene associated with Light Fixation Seizure Syndrome is CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-KappaB Family Pathway and 4-1BB Pathway. The drugs Immunoglobulins, Intravenous and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and liver.

More information from OMIM: 603530

Related Diseases for Light Fixation Seizure Syndrome

Diseases related to Light Fixation Seizure Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 cd40 ligand deficiency 31.8 CD40LG CD40
2 immunodeficiency with hyper-igm, type 1 31.4 CD40LG CD40
3 immune deficiency disease 29.8 CD40LG CD40
4 immunodeficiency with hyper-igm, type 3 29.4 CD40LG CD40
5 combined immunodeficiency 29.2 CD40LG CD40
6 agammaglobulinemia, x-linked 29.2 CD40LG CD40
7 agammaglobulinemia 29.2 CD40LG CD40
8 b cell deficiency 29.2 CD40LG CD40
9 common variable immunodeficiency 29.1 CD40LG CD40
10 severe combined immunodeficiency 29.0 CD40LG CD40
11 vascular disease 29.0 CD40LG CD40
12 three m syndrome 1 11.9
13 charlie m syndrome 11.5
14 three m syndrome 2 11.4
15 three m syndrome 3 11.3
16 oro-mandibular-limb hypogenesis syndrome 11.1
17 isolated growth hormone deficiency, type ia 9.9
18 cholangitis, primary sclerosing 9.9
19 sclerosing cholangitis 9.9
20 cholangitis 9.9
21 silver-russell syndrome 1 9.9
22 neutropenia 9.9
23 melanoma 9.9
24 diencephalic syndrome 9.9
25 immunodeficiency with hyper-igm, type 4 9.8 CD40LG CD40
26 goat milk allergy 9.8 CD40LG CD40
27 immunodeficiency with hyper-igm, type 5 9.8 CD40LG CD40
28 immunodeficiency with hyper-igm, type 2 9.8 CD40LG CD40
29 autoimmune disease 9.8 CD40LG CD40
30 autoimmune disease of exocrine system 9.8 CD40LG CD40
31 coccidiosis 9.8 CD40LG CD40
32 pemphigus foliaceus 9.8 CD40LG CD40
33 waldenstroem's macroglobulinemia 9.8 CD40LG CD40
34 macroglobulinemia 9.8 CD40LG CD40
35 neuromyelitis optica 9.8 CD40LG CD40
36 potocki-shaffer syndrome 9.8 CD40LG CD40
37 kawasaki disease 9.8 CD40LG CD40
38 sjogren syndrome 9.8 CD40LG CD40
39 craniosynostosis 1 9.8
40 melanoma, uveal 9.8
41 ataxia-telangiectasia 9.8
42 insulin-like growth factor i 9.8
43 microcephaly 9.8
44 respiratory failure 9.8
45 visual epilepsy 9.8
46 telangiectasis 9.8
47 ocular melanoma 9.8
48 neuroendocrine carcinoma 9.8
49 osteochondrodysplasia 9.8
50 rubella 9.8

Graphical network of the top 20 diseases related to Light Fixation Seizure Syndrome:



Diseases related to Light Fixation Seizure Syndrome

Symptoms & Phenotypes for Light Fixation Seizure Syndrome

Clinical features from OMIM®:

603530 (Updated 08-Dec-2022)

Drugs & Therapeutics for Light Fixation Seizure Syndrome

Drugs for Light Fixation Seizure Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 3
2 Immunoglobulins Phase 3
3 Immunoglobulin G Phase 3
4 Antibodies Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3

Search NIH Clinical Center for Light Fixation Seizure Syndrome

Genetic Tests for Light Fixation Seizure Syndrome

Anatomical Context for Light Fixation Seizure Syndrome

Organs/tissues related to Light Fixation Seizure Syndrome:

MalaCards : Bone Marrow, Lymph Node, Liver, B Cells, Small Intestine, Thymus, Bone

Publications for Light Fixation Seizure Syndrome

Articles related to Light Fixation Seizure Syndrome:

(show top 50) (show all 198)
# Title Authors PMID Year
1
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. 62 57
9934988 1999
2
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. 53 62
17244160 2007
3
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. 53 62
15661021 2005
4
Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand. 53 62
8914765 1996
5
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 53 62
7679801 1993
6
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3. 62
36177944 2022
7
Impact of liver fibrosis score on the incidence of stroke: A cohort study. 62
35789194 2022
8
Flap Endonuclease-Induced Steric Hindrance Change Enables the Construction of Multiplex and Versatile Lateral Flow Strips for DNA Detection. 62
36223239 2022
9
Non-Invasive Liver Fibrosis Scores Are Associated With Contrast-Associated Acute Kidney Injury in Patients Undergoing Elective Percutaneous Coronary Intervention. 62
35642134 2022
10
Community Supported Agriculture, Human Capital, and Community Health. 62
35000406 2022
11
Large differences in carbohydrate degradation and transport potential among lichen fungal symbionts. 62
35551185 2022
12
[Realist protocol for implementing integrated care pathways in France (waiver 51 LFSS 2018)]. 62
34153238 2022
13
3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients. 62
34674409 2022
14
Proposed Fatigue Index for the Objective Detection of Muscle Fatigue Using Surface Electromyography and a Double-Step Binary Classifier. 62
35271046 2022
15
How to Choose the Optimal Surgical Strategy to Predict and Prevent LFSS Following Liver Transplantation? 62
36133799 2022
16
Rethinking Liver Fibrosis Staging in Patients with Hepatocellular Carcinoma: New Insights from a Large Two-Center Cohort Study. 62
35983561 2022
17
Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology. 62
35181035 2022
18
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome. 62
34453469 2022
19
[Clinical and molecular genetic analysis of a patient with 3-M syndrome]. 62
34839515 2021
20
Low frequency sound stimulation greatly improved the outcome of a refractory postherpetic neuralgia patient with mood and sleep disorder: a case report. 62
34763480 2021
21
Establishment of a visualized isothermal nucleic acid amplification method for on-site diagnosis of acute hepatopancreatic necrosis disease in shrimp farm. 62
34041767 2021
22
Analysis of Deformation and Stresses of a Lightweight Floor System (LFS) under Thermal Action. 62
34640124 2021
23
Impact of liver fibrosis score on prognosis in patients with previous myocardial infarction: A prospective cohort study. 62
33389804 2021
24
Liver fibrosis scores and coronary atherosclerosis: novel findings in patients with stable coronary artery disease. 62
33740211 2021
25
Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases. 62
33743629 2021
26
Three M syndrome 2 in two Indian patients. 62
33135300 2021
27
Liver Fibrosis Scoring Systems as Novel Tools for Predicting Cardiovascular Outcomes in Patients Following Elective Percutaneous Coronary Intervention. 62
33506689 2021
28
A novel activation-induced cytidine deaminase mutation in an adult with hyper-immunoglobulin M syndrome. 62
33127529 2021
29
A Novel Strategy for Preventing Posttransplant Large-For-Size Syndrome in Adult Liver Transplant Recipients: A Pilot Study. 62
35185367 2021
30
Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation. 62
32924381 2020
31
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings. 62
33107243 2020
32
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity. 62
32691468 2020
33
A case of X-linked agammaglobulinemia masquerading X-linked hyper-immunoglobulin M syndrome. 62
32553778 2020
34
Physicochemical properties and shelf-life of low-fat pork sausages wrapped with active film manufactured by sodium alginate and cherry tomato powder. 62
32777907 2020
35
Effectiveness of percutaneous lumbar foraminoplasty in patients with lumbar foraminal spinal stenosis accompanying redundant nerve root syndrome: A retrospective observational study. 62
32872041 2020
36
A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon. 62
32278698 2020
37
Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing. 62
32141654 2020
38
Flow-cytometry as an auxiliary in the diagnosis of primary humoral immunodeficiencies. 62
32538998 2020
39
Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer. 62
31898234 2020
40
Evaluation of pulmonary findings in patients with humoral immunodeficiency. 62
32684763 2020
41
A Recombinase Polymerase Amplification and Lateral Flow Strip Combined Method That Detects Salmonella enterica Serotype Typhimurium With No Worry of Primer-Dependent Artifacts. 62
32655504 2020
42
FATAL cryptococcal meningitis in a child with hyper-immunoglobulin M syndrome, with an emphasis on the agent. 62
31409527 2019
43
Flow control for lateral flow strips with centrifugal microfluidics. 62
31276132 2019
44
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. 62
31343991 2019
45
Modulation of the Streaming Potential and Slip Characteristics in Electrolyte Flow over Liquid-Filled Surfaces. 62
30990691 2019
46
Clinical outcome of percutaneous lumbar foraminoplasty using a safety-improved device in patients with lumbar foraminal spinal stenosis. 62
30985699 2019
47
Evaluation of physicochemical and textural properties of myofibrillar protein gels and low-fat model sausage containing various levels of curdlan. 62
30612414 2019
48
3-M Syndrome: A Local Case Report. 62
30622233 2019
49
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. 62
30439505 2019
50
Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran. 62
31117086 2019

Variations for Light Fixation Seizure Syndrome

Expression for Light Fixation Seizure Syndrome

Search GEO for disease gene expression data for Light Fixation Seizure Syndrome.

Pathways for Light Fixation Seizure Syndrome

Pathways related to Light Fixation Seizure Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 CD40LG CD40
2
Show member pathways
12.09 CD40LG CD40
3
Show member pathways
12.05 CD40LG CD40
4
Show member pathways
11.75 CD40LG CD40
5 11.58 CD40LG CD40
6 11.37 CD40LG CD40
7
Show member pathways
11.23 CD40LG CD40
8 11.17 CD40LG CD40
9 11.03 CD40LG CD40
10 10.96 CD40LG CD40
11 10.67 CD40LG CD40
12 10.46 CD40LG CD40
13 10.07 CD40LG CD40

GO Terms for Light Fixation Seizure Syndrome

Biological processes related to Light Fixation Seizure Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.71 CD40LG CD40
2 platelet activation GO:0030168 9.67 CD40LG CD40
3 B cell proliferation GO:0042100 9.62 CD40LG CD40
4 positive regulation of interleukin-12 production GO:0032735 9.56 CD40LG CD40
5 positive regulation of endothelial cell apoptotic process GO:2000353 9.46 CD40LG CD40
6 CD40 signaling pathway GO:0023035 9.26 CD40LG CD40
7 regulation of immunoglobulin production GO:0002637 8.8 CD40LG CD40

Sources for Light Fixation Seizure Syndrome

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
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