LFSS
MCID: LGH019
MIFTS: 31

Light Fixation Seizure Syndrome (LFSS)

Aliases & Classifications for Light Fixation Seizure Syndrome

MalaCards integrated aliases for Light Fixation Seizure Syndrome:

Name: Light Fixation Seizure Syndrome 57 72
M Syndrome 57 55
Lfss 57

External Ids:

OMIM 57 603530
UMLS 72 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 Allograft rejection and NF-KappaB Family Pathway. The drugs Prednisone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and b cells.

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 75)
# Related Disease Score Top Affiliating Genes
1 cd40 ligand deficiency 32.2 CD40LG CD40
2 immunodeficiency with hyper-igm, type 1 31.8 CD40LG CD40
3 immune deficiency disease 29.5 CD40LG CD40
4 immunodeficiency with hyper-igm, type 3 29.1 CD40LG CD40
5 common variable immunodeficiency 28.9 CD40LG CD40
6 b cell deficiency 28.8 CD40LG CD40
7 autoimmune disease 28.6 CD40LG CD40
8 charlie m syndrome 12.5
9 three m syndrome 1 12.5
10 three m syndrome 3 12.4
11 three m syndrome 2 12.4
12 neutropenia 9.8
13 sclerosing cholangitis 9.8
14 cholangitis 9.8
15 immunodeficiency with hyper-igm, type 4 9.8 CD40LG CD40
16 sulfamethoxazole allergy 9.8 CD40LG CD40
17 ataxia and polyneuropathy, adult-onset 9.8
18 melanoma 9.8
19 exanthema subitum 9.7 CD40LG CD40
20 immunodeficiency with hyper-igm, type 2 9.7 CD40LG CD40
21 transient hypogammaglobulinemia of infancy 9.7 CD40LG CD40
22 agammaglobulinemia, x-linked 9.7 CD40LG CD40
23 melanoma, uveal 9.7
24 ataxia-telangiectasia 9.7
25 telangiectasis 9.7
26 neuroendocrine carcinoma 9.7
27 combined t cell and b cell immunodeficiency 9.7
28 rubella 9.7
29 skin melanoma 9.7
30 amyloidosis 9.7
31 congenital rubella 9.7
32 toxoplasmosis 9.6 CD40LG CD40
33 myocarditis 9.6 CD40LG CD40
34 lymphoma, mucosa-associated lymphoid type 9.5
35 lipomatosis, multiple 9.5
36 cyclic neutropenia 9.5
37 tetralogy of fallot 9.5
38 vesicoureteral reflux 1 9.5
39 charge syndrome 9.5
40 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 9.5
41 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 9.5
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.5
43 graft-versus-host disease 9.5
44 autosomal recessive disease 9.5
45 cone dystrophy 9.5
46 lymphoma 9.5
47 cryptococcal meningitis 9.5
48 hepatic veno-occlusive disease 9.5
49 pleomorphic lipoma 9.5
50 lymphocytic leukemia 9.5

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

Drugs & Therapeutics for Light Fixation Seizure Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
2
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
7
Melphalan Approved Phase 2 148-82-3 460612 4053
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
10 Prednisolone acetate Phase 2
11 Methylprednisolone Acetate Phase 2
12 Cyclosporins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2

Search NIH Clinical Center for Light Fixation Seizure Syndrome

Genetic Tests for Light Fixation Seizure Syndrome

Anatomical Context for Light Fixation Seizure Syndrome

MalaCards organs/tissues related to Light Fixation Seizure Syndrome:

41
Bone, Bone Marrow, B Cells, Lymph Node, Liver, Small Intestine, Thymus

Publications for Light Fixation Seizure Syndrome

Articles related to Light Fixation Seizure Syndrome:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. 38 8
9934988 1999
2
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. 9 38
17244160 2007
3
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. 9 38
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. 9 38
8914765 1996
5
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 9 38
7679801 1993
6
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. 38
31343991 2019
7
FATAL cryptococcal meningitis in a child with hyper-immunoglobulin M syndrome, with an emphasis on the agent. 38
31409527 2019
8
Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran. 38
31117086 2019
9
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. 38
30439505 2019
10
3-M Syndrome: A Local Case Report. 38
30622233 2019
11
Gastrointestinal histoplasmosis ileal stricture successfully treated with through-the-scope balloon dilation in a patient with hyperimmunoglobulin M syndrome. 38
29340926 2018
12
Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. 38
29400703 2018
13
PNMA family: Protein interaction network and cell signalling pathways implicated in cancer and apoptosis. 38
29378289 2018
14
A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and literature review. 38
29245273 2017
15
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. 38
28969986 2017
16
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. 38
28675896 2017
17
2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome. 38
27453585 2016
18
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. 38
27132808 2016
19
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome. 38
26903548 2016
20
Lymphocytic Interstitial Pneumonitis: An Unusual Presentation of X-Linked Hyper Ig M Syndrome. 38
27307965 2016
21
Erratum: Parry EM, Alder JK, Qi X, Chen JJ-L, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood. 2011;117(21):5607-5611. 38
31265491 2016
22
Pre- and post-natal growth in two sisters with 3-M syndrome. 38
26850509 2016
23
Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. 38
26488604 2016
24
A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees. 38
27818686 2016
25
Validity of Primary Immunodeficiency Disease Diagnoses in United States Medicaid Data. 38
26271389 2015
26
An adult with 3-M syndrome. 38
26187869 2015
27
Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations. 38
25817395 2015
28
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. 38
25411237 2015
29
3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. 38
25945256 2015
30
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. 38
25923536 2015
31
Solution NMR structures of immunoglobulin-like domains 7 and 12 from obscurin-like protein 1 contribute to the structural coverage of the Human Cancer Protein Interaction Network. 38
24989974 2014
32
Transitional cell carcinoma in a patient with X-linked hyperimmunoglobulin M syndrome. 38
25521976 2014
33
Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. 38
25113848 2014
34
Cryptococcal meningoencephalitis in a patient with hyper immunoglobulin M (IgM) syndrome: a case report. 38
25155248 2014
35
X-linked Hyper-IgM Syndrome with Bronchiectasis. 38
25328337 2014
36
Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? 38
25280033 2014
37
Identifying biological pathways that underlie primordial short stature using network analysis. 38
24711643 2014
38
Clinical utility gene card for: 3-M syndrome - update 2013. 38
23900270 2014
39
Spectrum of bone marrow failures of myeloid series: new report of neutropenic patients from a referral pediatric center in Iran. 38
23363289 2014
40
Whole exome sequencing to identify genetic causes of short stature. 38
24970356 2014
41
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. 38
23911390 2013
42
Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation. 38
23622016 2013
43
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. 38
23517720 2013
44
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. 38
23457316 2013
45
3-M syndrome: a growth disorder associated with IGF2 silencing. 38
24148222 2013
46
Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children. 38
24260974 2013
47
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. 38
22974575 2013
48
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. 38
23018678 2012
49
Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. 38
22624670 2012
50
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. 38
22992148 2012

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 CD40LG CD40
2
Show member pathways
12.17 CD40LG CD40
3
Show member pathways
12.16 CD40LG CD40
4
Show member pathways
12.1 CD40LG CD40
5
Show member pathways
12.09 CD40LG CD40
6
Show member pathways
11.9 CD40LG CD40
7
Show member pathways
11.78 CD40LG CD40
8 11.66 CD40LG CD40
9 11.61 CD40LG CD40
10 11.47 CD40LG CD40
11
Show member pathways
11.3 CD40LG CD40
12 11.17 CD40LG CD40
13 11.09 CD40LG CD40
14 11.01 CD40LG CD40
15 10.82 CD40LG CD40
16 10.67 CD40LG CD40
17 10.46 CD40LG CD40
18 10.1 CD40LG CD40

GO Terms for Light Fixation Seizure Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 CD40LG CD40
2 external side of plasma membrane GO:0009897 8.62 CD40LG CD40

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.46 CD40LG CD40
2 regulation of immune response GO:0050776 9.43 CD40LG CD40
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.4 CD40LG CD40
4 platelet activation GO:0030168 9.37 CD40LG CD40
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.32 CD40LG CD40
6 B cell proliferation GO:0042100 9.26 CD40LG CD40
7 positive regulation of interleukin-12 production GO:0032735 9.16 CD40LG CD40
8 positive regulation of endothelial cell apoptotic process GO:2000353 8.96 CD40LG CD40
9 regulation of immunoglobulin secretion GO:0051023 8.62 CD40LG CD40

Sources for Light Fixation Seizure Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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