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MCID: LGH019
MIFTS: 35

Light Fixation Seizure Syndrome

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Aliases & Classifications for Light Fixation Seizure Syndrome

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MalaCards integrated aliases for Light Fixation Seizure Syndrome:

Name: Light Fixation Seizure Syndrome 58 74
M Syndrome 58 56
Lfss 58

External Ids:

OMIM 58 603530
MedGen 43 C1863767
UMLS 74 C1863767
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Summaries for Light Fixation Seizure Syndrome

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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 Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone and t cells.

Description from OMIM: 603530
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Related Diseases for Light Fixation Seizure Syndrome

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 cd40 ligand deficiency 32.2 CD40 CD40LG
2 immunodeficiency with hyper-igm, type 1 31.2 CD40 CD40LG
3 charlie m syndrome 12.4
4 three m syndrome 1 12.3
5 three m syndrome 3 12.2
6 three m syndrome 2 12.2
7 immunodeficiency with hyper-igm, type 4 9.9 CD40 CD40LG
8 hyperimmunoglobulin syndrome 9.9 CD40 CD40LG
9 sulfamethoxazole allergy 9.9 CD40 CD40LG
10 immunodeficiency with hyper-igm, type 3 9.9 CD40 CD40LG
11 exanthema subitum 9.8 CD40 CD40LG
12 immunodeficiency with hyper-igm, type 2 9.8 CD40 CD40LG
13 transient hypogammaglobulinemia of infancy 9.8 CD40 CD40LG
14 agammaglobulinemia, x-linked 9.8 CD40 CD40LG
15 waldenstrom macroglobulinemia 9.8 CD40 CD40LG
16 b cell deficiency 9.8 CD40 CD40LG
17 immune deficiency disease 9.8 CD40 CD40LG
18 toxoplasmosis 9.8 CD40 CD40LG
19 myocarditis 9.8 CD40 CD40LG
20 autoimmune disease 9.7 CD40 CD40LG
21 neutropenia 9.7
22 melanoma 9.7
23 common variable immunodeficiency 9.7 CD40 CD40LG
24 burkitt lymphoma 9.7 CD40 CD40LG
25 ataxia-telangiectasia 9.6
26 telangiectasis 9.6
27 sclerosing cholangitis 9.6
28 neuroendocrine carcinoma 9.6
29 rubella 9.6
30 amyloidosis 9.6
31 cholangitis 9.6
32 congenital rubella 9.6
33 leukemia, chronic lymphocytic 9.6 CD40 CD40LG
34 malaria 9.5 CD40 CD40LG
35 lymphoma, mucosa-associated lymphoid type 9.5
36 lipomatosis, multiple 9.5
37 melanoma, uveal 9.5
38 cyclic neutropenia 9.5
39 charge syndrome 9.5
40 cone dystrophy 3 9.5
41 systemic mastocytosis 9.5
42 cone dystrophy 9.5
43 lymphoma 9.5
44 pleomorphic lipoma 9.5
45 histoplasmosis 9.5
46 cholecystitis 9.5
47 transitional cell carcinoma 9.5
48 acalculous cholecystitis 9.5
49 mastocytosis 9.5
50 combined t cell and b cell immunodeficiency 9.5

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



Diseases related to Light Fixation Seizure Syndrome
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Symptoms & Phenotypes for Light Fixation Seizure Syndrome

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Clinical features from OMIM:

603530
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Drugs & Therapeutics for Light Fixation Seizure Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3
2 Antibodies Phase 3
3 Immunologic Factors Phase 3
4 Immunoglobulin G Phase 3
5
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
6
Melphalan Approved Phase 2 148-82-3 460612 4053
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
9
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
10
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
11
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
12
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
13
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
14 Methylprednisolone Acetate Phase 2
15 Cyclosporins Phase 2
16 Prednisolone acetate 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

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Genetic Tests for Light Fixation Seizure Syndrome

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Anatomical Context for Light Fixation Seizure Syndrome

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MalaCards organs/tissues related to Light Fixation Seizure Syndrome:

42
B Cells, Bone, T Cells, Lymph Node, Liver, Bone Marrow, Small Intestine
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Publications for Light Fixation Seizure Syndrome

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Articles related to Light Fixation Seizure Syndrome:

(show top 50) (show all 77)
# Title Authors Year
1
3-M Syndrome: A Local Case Report. ( 30622233 )
2019
2
Gastrointestinal histoplasmosis ileal stricture successfully treated with through-the-scope balloon dilation in a patient with hyperimmunoglobulin M syndrome. ( 29340926 )
2018
3
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. ( 28675896 )
2017
4
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. ( 28969986 )
2017
5
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. ( 27132808 )
2016
6
A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees. ( 27818686 )
2016
7
Lymphocytic Interstitial Pneumonitis: An Unusual Presentation of X-Linked Hyper Ig M Syndrome. ( 27307965 )
2016
8
2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome. ( 27453585 )
2016
9
Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. ( 26488604 )
2016
10
Pre- and post-natal growth in two sisters with 3-M syndrome. ( 26850509 )
2016
11
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. ( 25923536 )
2015
12
3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. ( 25945256 )
2015
13
An adult with 3-M syndrome. ( 26187869 )
2015
14
Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. ( 25113848 )
2014
15
Transitional cell carcinoma in a patient with X-linked hyperimmunoglobulin M syndrome. ( 25521976 )
2014
16
Clinical utility gene card for: 3-M syndrome - update 2013. ( 23900270 )
2014
17
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. ( 23517720 )
2013
18
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. ( 23911390 )
2013
19
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. ( 23457316 )
2013
20
Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation. ( 23622016 )
2013
21
3-M syndrome: a growth disorder associated with IGF2 silencing. ( 24148222 )
2013
22
Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression. ( 22443339 )
2012
23
Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. ( 22624670 )
2012
24
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. ( 22992148 )
2012
25
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. ( 23018678 )
2012
26
Nodularity of the small intestine in a child with systemic mastocytosis associated with hyperimmunoglobulin M syndrome. ( 21865968 )
2011
27
Hip dislocation in 3-M syndrome: risk of misdiagnosis. ( 21383554 )
2011
28
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? ( 21548126 )
2011
29
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. ( 21737058 )
2011
30
The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. ( 22156540 )
2011
31
Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. ( 20945614 )
2010
32
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. ( 19877176 )
2010
33
Cellular and molecular characterisation of the hyper immunoglobulin M syndrome associated with congenital rubella infection. ( 18663564 )
2009
34
Metastatic cutaneous melanoma to the ciliary body in familial atypical mole-melanoma (fam-m) syndrome. ( 25391060 )
2009
35
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. ( 19481195 )
2009
36
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome. ( 18466034 )
2008
37
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. ( 18805740 )
2008
38
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. ( 17553565 )
2008
39
Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. ( 17591387 )
2007
40
CHARGE association, hyper-immunoglobulin M syndrome, and conjunctival MALT lymphoma. ( 17667624 )
2007
41
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. ( 17244160 )
2007
42
X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family. ( 16508335 )
2006
43
3-M syndrome: a report of three Egyptian cases with review of the literature. ( 16531729 )
2006
44
Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome. ( 16037832 )
2005
45
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. ( 15661021 )
2005
46
Identification of mutations in CUL7 in 3-M syndrome. ( 16142236 )
2005
47
Invasive Cryptococcus laurentii disease in a nine-year-old boy with X-linked hyper-immunoglobulin M syndrome. ( 16220101 )
2005
48
Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin m syndrome with cholangiopathy. ( 14754981 )
2004
49
Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4. ( 15027907 )
2004
50
3-M syndrome in two sisters. ( 12174011 )
2002
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Variations for Light Fixation Seizure Syndrome

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Expression for Light Fixation Seizure Syndrome

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

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Allograft rejection 38 1
Show member pathways
 12.32 CD40 CD40LG
2
NF-KappaB Family Pathway 65
Show member pathways
 12.17 CD40 CD40LG
3
4-1BB Pathway 65
Show member pathways
 12.16 CD40 CD40LG
4
TRAF Pathway 65
Show member pathways
 12.1 CD40 CD40LG
5
Immune response NFAT in immune response 23
Show member pathways
 12.09 CD40 CD40LG
6
ICos-ICosL Pathway in T-Helper Cell 65
Show member pathways
 11.9 CD40 CD40LG
7
Toxoplasmosis 38
Show member pathways
 11.78 CD40 CD40LG
8
Cell adhesion molecules (CAMs) 38
11.66 CD40 CD40LG
9
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 67
11.61 CD40 CD40LG
10
NF-kappa B signaling pathway 38
11.46 CD40 CD40LG
11
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.3 CD40 CD40LG
12
T Cell Co-Signaling Pathway: Ligand-Receptor Interactions 66
11.17 CD40 CD40LG
13
B Cell Development Pathways 66
11.09 CD40 CD40LG
14
Malaria 38
11.01 CD40 CD40LG
15
Primary immunodeficiency 38
10.82 CD40 CD40LG
16
Inflammatory Response Pathway 1
10.67 CD40 CD40LG
17
A-beta Pathways: Uptake and Degradation 66
10.46 CD40 CD40LG
18
CD40/CD40L signaling 1
10.1 CD40 CD40LG
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GO Terms for Light Fixation Seizure Syndrome

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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