Light Fixation Seizure Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

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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

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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:

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Symptoms & Phenotypes for Light Fixation Seizure Syndrome

Clinical features from OMIM®:

603530 (Updated 08-Dec-2022)

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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

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Genetic Tests for Light Fixation Seizure Syndrome

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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

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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	Rauch A...Opitz JM	9934988	1999
2	Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. ⁵³ ⁶²	Van Hoeyveld E...Bossuyt X	17244160	2007
3	Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. ⁵³ ⁶²	Lougaris V...Plebani A	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	Ameratunga R...Marbrook J	8914765	1996
5	CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. ⁵³ ⁶²	Allen RC...Simoneaux DK	7679801	1993
6	Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3. ⁶²	Nobrega PR...Kok F	36177944	2022
7	Impact of liver fibrosis score on the incidence of stroke: A cohort study. ⁶²	Xiong S...Sun Y	35789194	2022
8	Flap Endonuclease-Induced Steric Hindrance Change Enables the Construction of Multiplex and Versatile Lateral Flow Strips for DNA Detection. ⁶²	Ma Y...Zhou G	36223239	2022
9	Non-Invasive Liver Fibrosis Scores Are Associated With Contrast-Associated Acute Kidney Injury in Patients Undergoing Elective Percutaneous Coronary Intervention. ⁶²	He HM...Guo YS	35642134	2022
10	Community Supported Agriculture, Human Capital, and Community Health. ⁶²	Martinez CL...Soto Mas F	35000406	2022
11	Large differences in carbohydrate degradation and transport potential among lichen fungal symbionts. ⁶²	Resl P...Spribille T	35551185	2022
12	[Realist protocol for implementing integrated care pathways in France (waiver 51 LFSS 2018)]. ⁶²	Launois R...Eymere S	34153238	2022
13	3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients. ⁶²	Akella RRD	34674409	2022
14	Proposed Fatigue Index for the Objective Detection of Muscle Fatigue Using Surface Electromyography and a Double-Step Binary Classifier. ⁶²	Qassim HM...Ismail LI	35271046	2022
15	How to Choose the Optimal Surgical Strategy to Predict and Prevent LFSS Following Liver Transplantation? ⁶²	He D...Jiang L	36133799	2022
16	Rethinking Liver Fibrosis Staging in Patients with Hepatocellular Carcinoma: New Insights from a Large Two-Center Cohort Study. ⁶²	Xu W...Liu Y	35983561	2022
17	Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology. ⁶²	Chiang CJ...Chang CH	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	Hasegawa K...Tsukahara H	34453469	2022
19	[Clinical and molecular genetic analysis of a patient with 3-M syndrome]. ⁶²	Huang Y...Ge Y	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	Wang X...Xiang J	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	Yang X...Gao S	34041767	2021
22	Analysis of Deformation and Stresses of a Lightweight Floor System (LFS) under Thermal Action. ⁶²	Karpiesiuk J...Chyzy T	34640124	2021
23	Impact of liver fibrosis score on prognosis in patients with previous myocardial infarction: A prospective cohort study. ⁶²	Cao YX...Li JJ	33389804	2021
24	Liver fibrosis scores and coronary atherosclerosis: novel findings in patients with stable coronary artery disease. ⁶²	Jin JL...Li JJ	33740211	2021
25	Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases. ⁶²	Zeng Q...Fan H	33743629	2021
26	Three M syndrome 2 in two Indian patients. ⁶²	Jacob P...Girisha KM	33135300	2021
27	Liver Fibrosis Scoring Systems as Novel Tools for Predicting Cardiovascular Outcomes in Patients Following Elective Percutaneous Coronary Intervention. ⁶²	Liu HH...Li JJ	33506689	2021
28	A novel activation-induced cytidine deaminase mutation in an adult with hyper-immunoglobulin M syndrome. ⁶²	Mendoza J...Amornruk N	33127529	2021
29	A Novel Strategy for Preventing Posttransplant Large-For-Size Syndrome in Adult Liver Transplant Recipients: A Pilot Study. ⁶²	Pu X...Jiang L	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	Yang M...Patni N	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	Lee IK...Kim YM	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	Dasouki M...Hawwari A	32691468	2020
33	A case of X-linked agammaglobulinemia masquerading X-linked hyper-immunoglobulin M syndrome. ⁶²	Yousef E	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	Qiu ZZ...Chin KB	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	Jeong KS...In CB	32872041	2020
36	A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon. ⁶²	Guo L...Liu L	32278698	2020
37	Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing. ⁶²	Hu L...Huang S	32141654	2020
38	Flow-cytometry as an auxiliary in the diagnosis of primary humoral immunodeficiencies. ⁶²	Santos-Argumedo L...Moreno-Corona NC	32538998	2020
39	Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer. ⁶²	Pan ZQ	31898234	2020
40	Evaluation of pulmonary findings in patients with humoral immunodeficiency. ⁶²	Karali Z...Gultekin SSK	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	Wu H...Lu C	32655504	2020
42	FATAL cryptococcal meningitis in a child with hyper-immunoglobulin M syndrome, with an emphasis on the agent. ⁶²	Suzuki SML...Svidzinski T	31409527	2019
43	Flow control for lateral flow strips with centrifugal microfluidics. ⁶²	Kainz DM...Paust N	31276132	2019
44	Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. ⁶²	Wang P...Xiong Y	31343991	2019
45	Modulation of the Streaming Potential and Slip Characteristics in Electrolyte Flow over Liquid-Filled Surfaces. ⁶²	Fan B...Bandaru PR	30990691	2019
46	Clinical outcome of percutaneous lumbar foraminoplasty using a safety-improved device in patients with lumbar foraminal spinal stenosis. ⁶²	Yoo Y...Sim SE	30985699	2019
47	Evaluation of physicochemical and textural properties of myofibrillar protein gels and low-fat model sausage containing various levels of curdlan. ⁶²	Lee CH...Chin KB	30612414	2019
48	3-M Syndrome: A Local Case Report. ⁶²	HabibUllah H...Bashir S	30622233	2019
49	The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. ⁶²	Yazdani R...Aghamohammadi A	30439505	2019
50	Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran. ⁶²	Tafakori Delbari M...Aghamohammadi A	31117086	2019

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Genes for Light Fixation Seizure Syndrome

Genes related to Light Fixation Seizure Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CD40LG	CD40 Ligand	Protein Coding	9.12	Novoseek inferred ⁵³	7679801 17244160 8914765
2	CD40	CD40 Molecule	Protein Coding	7.94	Novoseek inferred ⁵³	15661021 8914765

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Variations for Light Fixation Seizure Syndrome

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Expression for Light Fixation Seizure Syndrome

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

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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	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.14	CD40LG CD40
2	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.09	CD40LG CD40
3	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.05	CD40LG CD40
4	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	11.75	CD40LG CD40
5	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.58	CD40LG CD40
6	Allograft rejection ⁷⁴	11.37	CD40LG CD40
7	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.23	CD40LG CD40
8	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.17	CD40LG CD40
9	THC Differentiation Pathway ⁶⁴	11.03	CD40LG CD40
10	Non-genomic actions of 1,25 dihydroxyvitamin D3 ⁷⁴	10.96	CD40LG CD40
11	Inflammatory response pathway ⁷⁴	10.67	CD40LG CD40
12	A-beta Uptake and Degradation ⁶⁵	10.46	CD40LG CD40
13	CD40/CD40L signaling ⁶¹	10.07	CD40LG CD40

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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

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Sources for Light Fixation Seizure Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LFSS MCID: LGH019 MIFTS: 29	Light Fixation Seizure Syndrome (LFSS)	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Drugs Expand all tables

Light Fixation Seizure Syndrome (LFSS)

Aliases & Classifications for Light Fixation Seizure Syndrome

MalaCards integrated aliases for Light Fixation Seizure Syndrome:

External Ids:

Summaries for Light Fixation Seizure Syndrome

Related Diseases for Light Fixation Seizure Syndrome

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

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

Symptoms & Phenotypes for Light Fixation Seizure Syndrome

Clinical features from OMIM®:

Drugs & Therapeutics for Light Fixation Seizure Syndrome

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

Interventional clinical trials:

Genetic Tests for Light Fixation Seizure Syndrome

Anatomical Context for Light Fixation Seizure Syndrome

Organs/tissues related to Light Fixation Seizure Syndrome:

Publications for Light Fixation Seizure Syndrome

Articles related to Light Fixation Seizure Syndrome:

Genes for Light Fixation Seizure Syndrome

Genes related to Light Fixation Seizure Syndrome (0 elite genes):

Variations for Light Fixation Seizure Syndrome

Expression for Light Fixation Seizure Syndrome

Pathways for Light Fixation Seizure Syndrome

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

GO Terms for Light Fixation Seizure Syndrome

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

Sources for Light Fixation Seizure Syndrome