MCID: LGH019
MIFTS: 33

Light Fixation Seizure Syndrome

Categories: Ear diseases

Aliases & Classifications for Light Fixation Seizure Syndrome

MalaCards integrated aliases for Light Fixation Seizure Syndrome:

Name: Light Fixation Seizure Syndrome 57 73
M Syndrome 57 55
Lfss 57

Classifications:



External Ids:

OMIM 57 603530
MedGen 42 C1863767
ICD10 33 H81.0
UMLS 73 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 Antibodies and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include b cells, small intestine and lymph node.

Description 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 all 42)
# Related Disease Score Top Affiliating Genes
1 cd40 ligand deficiency 31.7 CD40 CD40LG
2 immunodeficiency with hyper-igm, type 1 30.8 CD40 CD40LG
3 combined immunodeficiency, x-linked 28.6 CD40 CD40LG
4 charlie m syndrome 12.2
5 three m syndrome 1 12.1
6 three m syndrome 3 12.0
7 three m syndrome 2 12.0
8 immunodeficiency with hyper-igm, type 4 9.8 CD40 CD40LG
9 hyperimmunoglobulin syndrome 9.8 CD40 CD40LG
10 immunodeficiency with hyper-igm, type 3 9.7 CD40 CD40LG
11 exanthema subitum 9.7 CD40 CD40LG
12 waldenstrom macroglobulinemia 9.7 CD40 CD40LG
13 immunodeficiency with hyper-igm, type 2 9.7 CD40 CD40LG
14 mature b-cell neoplasm 9.7 CD40 CD40LG
15 b cell deficiency 9.7 CD40 CD40LG
16 toxoplasmosis 9.7 CD40 CD40LG
17 myocarditis 9.6 CD40 CD40LG
18 immune deficiency disease 9.6 CD40 CD40LG
19 mantle cell lymphoma 9.6 CD40 CD40LG
20 common variable immunodeficiency 9.6 CD40 CD40LG
21 ataxia-telangiectasia 9.5
22 neutropenia 9.5
23 rubella 9.5
24 congenital rubella 9.5
25 myeloma, multiple 9.5 CD40 CD40LG
26 burkitt lymphoma 9.5 CD40 CD40LG
27 lymphoma, non-hodgkin, familial 9.4 CD40 CD40LG
28 lymphoma, mucosa-associated lymphoid type 9.4
29 cyclic neutropenia 9.4
30 cone dystrophy 3 9.4
31 systemic mastocytosis 9.4
32 cone dystrophy 9.4
33 lymphoma 9.4
34 sclerosing cholangitis 9.4
35 histoplasmosis 9.4
36 cholecystitis 9.4
37 acalculous cholecystitis 9.4
38 retinitis 9.4
39 cholangitis 9.4
40 autoimmune disease 9.3 CD40 CD40LG
41 leukemia, chronic lymphocytic 9.2 CD40 CD40LG
42 malaria 9.0 CD40 CD40LG

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Immunoglobulin G Phase 3
3 Immunoglobulins Phase 3
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
Melphalan Approved Phase 2 148-82-3 4053 460612
7
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10 Cyclosporins Phase 2
11 Methylprednisolone acetate Phase 2
12 Methylprednisolone Hemisuccinate Phase 2
13 Prednisolone acetate Phase 2
14 Prednisolone hemisuccinate Phase 2
15 Prednisolone phosphate Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
2 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (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
B Cells, Small Intestine, Lymph Node

Publications for Light Fixation Seizure Syndrome

Articles related to Light Fixation Seizure Syndrome:

(show all 25)
# Title Authors Year
1
Gastrointestinal histoplasmosis ileal stricture successfully treated with through-the-scope balloon dilation in a patient with hyperimmunoglobulin M syndrome. ( 29340926 )
2018
2
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. ( 27132808 )
2016
3
Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. ( 25113848 )
2014
4
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. ( 23911390 )
2013
5
Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression. ( 22443339 )
2012
6
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. ( 22992148 )
2012
7
Nodularity of the small intestine in a child with systemic mastocytosis associated with hyperimmunoglobulin M syndrome. ( 21865968 )
2011
8
Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. ( 20945614 )
2010
9
Cellular and molecular characterisation of the hyper immunoglobulin M syndrome associated with congenital rubella infection. ( 18663564 )
2009
10
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. ( 17553565 )
2008
11
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome. ( 18466034 )
2008
12
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. ( 18805740 )
2008
13
CHARGE association, hyper-immunoglobulin M syndrome, and conjunctival MALT lymphoma. ( 17667624 )
2007
14
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. ( 17244160 )
2007
15
Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. ( 17591387 )
2007
16
X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family. ( 16508335 )
2006
17
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. ( 15661021 )
2005
18
Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome. ( 16037832 )
2005
19
Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. ( 15661022 )
2005
20
Non-X-linked hyperimmunoglobulin M syndrome with chronic interstitial pneumonitis. ( 11206940 )
2000
21
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. ( 9934988 )
1999
22
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. ( 8914765 )
1996
23
Intrinsic defect in B cells of patients with hyper-immunoglobulin M syndrome. ( 7583916 )
1995
24
[Successful treatment of cyclic neutropenia associated with hyperimmunoglobulin M syndrome using recombinant granulocyte-colony stimulating factor]. ( 7566951 )
1995
25
Successful treatment of neutropenia in the hyper-immunoglobulin M syndrome with granulocyte colony-stimulating factor. ( 7513136 )
1994

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 CD40 CD40LG
2
Show member pathways
12.15 CD40 CD40LG
3
Show member pathways
12.04 CD40 CD40LG
4
Show member pathways
11.92 CD40 CD40LG
5
Show member pathways
11.8 CD40 CD40LG
6 11.65 CD40 CD40LG
7 11.61 CD40 CD40LG
8 11.43 CD40 CD40LG
9
Show member pathways
11.3 CD40 CD40LG
10 11.17 CD40 CD40LG
11 11.09 CD40 CD40LG
12 11.01 CD40 CD40LG
13 10.82 CD40 CD40LG
14 10.67 CD40 CD40LG
15 10.46 CD40 CD40LG
16 10.1 CD40 CD40LG

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 external side of plasma membrane GO:0009897 8.62 CD40 CD40LG

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.48 CD40 CD40LG
2 inflammatory response GO:0006954 9.46 CD40 CD40LG
3 regulation of immune response GO:0050776 9.43 CD40 CD40LG
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.4 CD40 CD40LG
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.37 CD40 CD40LG
6 platelet activation GO:0030168 9.32 CD40 CD40LG
7 B cell proliferation GO:0042100 9.26 CD40 CD40LG
8 positive regulation of interleukin-12 production GO:0032735 9.16 CD40 CD40LG
9 positive regulation of endothelial cell apoptotic process GO:2000353 8.96 CD40 CD40LG
10 regulation of immunoglobulin secretion GO:0051023 8.62 CD40 CD40LG

Sources for Light Fixation Seizure Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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