LFSS
MCID: LGH019
MIFTS: 35

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 73
M Syndrome 57 55
Lfss 57

External Ids:

OMIM 57 603530
MedGen 42 C1863767
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 Allograft rejection and NF-KappaB Family Pathway. The drugs Immunoglobulin G and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, lymph node and t cells.

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 49)
# 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 12.2
5 three m syndrome 3 12.1
6 three m syndrome 2 12.1
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 9.9 CD40 CD40LG
12 immunodeficiency with hyper-igm, type 2 9.9 CD40 CD40LG
13 transient hypogammaglobulinemia of infancy 9.9 CD40 CD40LG
14 b cell deficiency 9.9 CD40 CD40LG
15 agammaglobulinemia, x-linked 9.9 CD40 CD40LG
16 immune deficiency disease 9.9 CD40 CD40LG
17 waldenstrom macroglobulinemia 9.9 CD40 CD40LG
18 toxoplasmosis 9.9 CD40 CD40LG
19 immune system disease 9.9 CD40 CD40LG
20 myocarditis 9.8 CD40LG CD40
21 common variable immunodeficiency 9.8 CD40LG CD40
22 burkitt lymphoma 9.8 CD40LG CD40
23 autoimmune disease 9.8 CD40LG CD40
24 leukemia, chronic lymphocytic 9.8 CD40LG CD40
25 neutropenia 9.7
26 melanoma 9.7
27 malaria 9.7 CD40LG CD40
28 ataxia-telangiectasia 9.7
29 sclerosing cholangitis 9.7
30 rubella 9.7
31 amyloidosis 9.7
32 cholangitis 9.7
33 congenital rubella 9.7
34 lymphoma, mucosa-associated lymphoid type 9.5
35 lipomatosis, multiple 9.5
36 melanoma, uveal 9.5
37 cyclic neutropenia 9.5
38 cone dystrophy 3 9.5
39 systemic mastocytosis 9.5
40 cone dystrophy 9.5
41 lymphoma 9.5
42 pleomorphic lipoma 9.5
43 histoplasmosis 9.5
44 cholecystitis 9.5
45 transitional cell carcinoma 9.5
46 acalculous cholecystitis 9.5
47 mastocytosis 9.5
48 combined t cell and b cell immunodeficiency 9.5
49 skin melanoma 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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin G Phase 3
2 Antibodies Phase 3
3 Immunologic Factors Phase 3
4 Immunoglobulins Phase 3
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
7
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
8
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
11
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
14 Methylprednisolone acetate Phase 2
15 Prednisolone acetate Phase 2
16 Cyclosporins 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
Bone, Lymph Node, T Cells, B Cells, Bone Marrow, Small Intestine, Skin

Publications for Light Fixation Seizure Syndrome

Articles related to Light Fixation Seizure Syndrome:

(show top 50) (show all 77)
# 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
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. ( 28675896 )
2017
3
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. ( 28969986 )
2017
4
Pre- and post-natal growth in two sisters with 3-M syndrome. ( 26850509 )
2016
5
Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. ( 26488604 )
2016
6
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. ( 27132808 )
2016
7
A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees. ( 27818686 )
2016
8
Lymphocytic Interstitial Pneumonitis: An Unusual Presentation of X-Linked Hyper Ig M Syndrome. ( 27307965 )
2016
9
2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome. ( 27453585 )
2016
10
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. ( 25923536 )
2015
11
3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. ( 25945256 )
2015
12
An adult with 3-M syndrome. ( 26187869 )
2015
13
Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. ( 25113848 )
2014
14
Transitional cell carcinoma in a patient with X-linked hyperimmunoglobulin M syndrome. ( 25521976 )
2014
15
Clinical Utility Gene Card for: 3-M syndrome - Update 2013. ( 23900270 )
2013
16
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. ( 23457316 )
2013
17
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. ( 23911390 )
2013
18
3-M syndrome: a growth disorder associated with IGF2 silencing. ( 24148222 )
2013
19
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. ( 23517720 )
2013
20
Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation. ( 23622016 )
2013
21
Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression. ( 22443339 )
2012
22
Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. ( 22624670 )
2012
23
Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. ( 22992148 )
2012
24
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. ( 23018678 )
2012
25
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? ( 21548126 )
2011
26
Nodularity of the small intestine in a child with systemic mastocytosis associated with hyperimmunoglobulin M syndrome. ( 21865968 )
2011
27
The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. ( 22156540 )
2011
28
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
29
Hip dislocation in 3-M syndrome: risk of misdiagnosis. ( 21383554 )
2011
30
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. ( 19877176 )
2010
31
Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. ( 20945614 )
2010
32
Cellular and molecular characterisation of the hyper immunoglobulin M syndrome associated with congenital rubella infection. ( 18663564 )
2009
33
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. ( 19481195 )
2009
34
Metastatic cutaneous melanoma to the ciliary body in familial atypical mole-melanoma (fam-m) syndrome. ( 25391060 )
2009
35
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. ( 17553565 )
2008
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
CHARGE association, hyper-immunoglobulin M syndrome, and conjunctival MALT lymphoma. ( 17667624 )
2007
39
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. ( 17244160 )
2007
40
Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. ( 17591387 )
2007
41
X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family. ( 16508335 )
2006
42
3-M syndrome: a report of three Egyptian cases with review of the literature. ( 16531729 )
2006
43
Identification of mutations in CUL7 in 3-M syndrome. ( 16142236 )
2005
44
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. ( 15661021 )
2005
45
Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome. ( 16037832 )
2005
46
Invasive Cryptococcus laurentii disease in a nine-year-old boy with X-linked hyper-immunoglobulin M syndrome. ( 16220101 )
2005
47
Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin m syndrome with cholangiopathy. ( 14754981 )
2004
48
Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4. ( 15027907 )
2004
49
3-M syndrome in two sisters. ( 12174011 )
2002
50
3-M syndrome: description of six new patients with review of the literature. ( 11665997 )
2001

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 CD40 CD40LG
2
Show member pathways
12.17 CD40 CD40LG
3
Show member pathways
12.16 CD40 CD40LG
4
Show member pathways
12.1 CD40 CD40LG
5
Show member pathways
12.09 CD40 CD40LG
6
Show member pathways
11.9 CD40 CD40LG
7
Show member pathways
11.78 CD40 CD40LG
8 11.65 CD40 CD40LG
9 11.61 CD40 CD40LG
10 11.43 CD40 CD40LG
11
Show member pathways
11.3 CD40 CD40LG
12 11.17 CD40 CD40LG
13 11.09 CD40 CD40LG
14 11.01 CD40 CD40LG
15 10.82 CD40 CD40LG
16 10.67 CD40 CD40LG
17 10.46 CD40 CD40LG
18 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 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

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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