FEB5
MCID: FBR071
MIFTS: 29

Febrile Seizures, Familial, 5 (FEB5)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 5

MalaCards integrated aliases for Febrile Seizures, Familial, 5:

Name: Febrile Seizures, Familial, 5 57 13
Familial Febrile Seizures 5 12 15
Feb5 57 12
Convulsions, Familial Febrile, 5 57
Familial Febrile Convulsions 5 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset 3 months of age up to 5 years
seizures remit by age 5 years
genetic heterogeneity (see feb1 )


HPO:

31
febrile seizures, familial, 5:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111306
OMIM® 57 609255
OMIM Phenotypic Series 57 PS121210
MedGen 41 C1836507

Summaries for Febrile Seizures, Familial, 5

Disease Ontology : 12 A familial febrile seizures that has material basis in variation in a region on chromosome 6q22-q24.

MalaCards based summary : Febrile Seizures, Familial, 5, also known as familial febrile seizures 5, is related to myoclonic epilepsy of infancy and verbal auditory agnosia. An important gene associated with Febrile Seizures, Familial, 5 is FEB5 (Febrile Convulsions 5), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and L1CAM interactions. Related phenotypes are atonic seizure and bilateral tonic-clonic seizure

More information from OMIM: 609255 PS121210

Related Diseases for Febrile Seizures, Familial, 5

Diseases in the Febrile Seizures family:

Febrile Seizures, Familial, 1 Febrile Seizures, Familial, 2
Febrile Seizures, Familial, 4 Febrile Seizures, Familial, 8
Febrile Seizures, Familial, 6 Febrile Seizures, Familial, 5
Febrile Seizures, Familial, 7 Febrile Seizures, Familial, 9
Febrile Seizures, Familial, 10 Febrile Seizures, Familial, 11
Familial Febrile Seizures

Diseases related to Febrile Seizures, Familial, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
2 verbal auditory agnosia 10.2 SCN1B GABRG2
3 juvenile absence epilepsy 10.1 SCN1A GABRG2
4 generalized epilepsy with febrile seizures plus, type 1 10.1 SCN1B SCN1A
5 sturge-weber syndrome 10.1 SCN1A GABRG2
6 genetic epilepsy with febrile seizures plus 10.1 SCN2A SCN1A
7 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1B SCN1A GABRG2
8 partial motor epilepsy 10.1 SCN2A SCN1A
9 developmental and epileptic encephalopathy 14 10.0 SCN2A SCN1A
10 low-grade astrocytoma 10.0 SCN2A SCN1A
11 long qt syndrome 3 10.0 SCN1B SCN1A
12 trigeminal nerve disease 10.0 SCN2A SCN1A
13 unverricht-lundborg syndrome 10.0 SCN1B SCN1A GABRG2
14 reflex epilepsy 10.0 SCN2A SCN1A GABRG2
15 landau-kleffner syndrome 10.0 SCN2A SCN1A GABRG2
16 hyperkalemic periodic paralysis 10.0 SCN2A SCN1A
17 developmental and epileptic encephalopathy 13 9.9 SCN2A SCN1B SCN1A
18 infancy electroclinical syndrome 9.9 SCN2A SCN1B SCN1A
19 benign neonatal seizures 9.9 SCN2A SCN1B SCN1A
20 focal epilepsy 9.9 SCN2A SCN1A GABRG2
21 migraine, familial hemiplegic, 3 9.9 SCN2A SCN1A
22 paramyotonia congenita of von eulenburg 9.9 SCN2A SCN1B SCN1A
23 paroxysmal extreme pain disorder 9.9 SCN2A SCN1B SCN1A
24 malignant migrating partial seizures of infancy 9.9 SCN2A SCN1A
25 generalized epilepsy with febrile seizures plus, type 4 9.8 TSPYL4 TBC1D22A
26 epilepsy, familial temporal lobe, 5 9.8 TBC1D22A SCN1B SCN1A GABRG2
27 febrile seizures, familial, 4 9.8 TBC1D22A SCN1B SCN1A GABRG2
28 generalized epilepsy with febrile seizures plus, type 2 9.8 TBC1D22A SCN1B SCN1A GABRG2
29 generalized epilepsy with febrile seizures plus, type 7 9.8 TBC1D22A SCN1B SCN1A GABRG2
30 febrile seizures 9.8 SCN2A SCN1B SCN1A GABRG2
31 febrile seizures, familial, 2 9.8 SCN2A SCN1B SCN1A GABRG2
32 early onset absence epilepsy 9.8 SCN2A SCN1B SCN1A GABRG2
33 epilepsy with generalized tonic-clonic seizures 9.8 SCN2A SCN1B SCN1A GABRG2
34 adolescence-adult electroclinical syndrome 9.8 SCN2A SCN1B SCN1A GABRG2
35 photosensitive epilepsy 9.8 SCN2A SCN1B SCN1A GABRG2
36 benign familial neonatal epilepsy 9.8 SCN2A SCN1B SCN1A GABRG2
37 childhood electroclinical syndrome 9.8 SCN2A SCN1B SCN1A GABRG2
38 neonatal period electroclinical syndrome 9.8 SCN2A SCN1B SCN1A GABRG2
39 benign familial infantile epilepsy 9.8 SCN2A SCN1B SCN1A GABRG2
40 lennox-gastaut syndrome 9.8 SCN2A SCN1B SCN1A GABRG2
41 early myoclonic encephalopathy 9.8 SCN2A SCN1B SCN1A GABRG2
42 autosomal dominant nocturnal frontal lobe epilepsy 9.8 SCN2A SCN1B SCN1A GABRG2
43 epilepsy, myoclonic juvenile 9.8 SCN2A SCN1B SCN1A GABRG2
44 dravet syndrome 9.8 SCN2A SCN1B SCN1A GABRG2
45 epilepsy, idiopathic generalized 9.8 SCN2A SCN1B SCN1A GABRG2
46 childhood absence epilepsy 9.8 SCN2A SCN1B SCN1A GABRG2
47 erythromelalgia 9.8 SCN2A SCN1A
48 benign epilepsy with centrotemporal spikes 9.8 SCN2A SCN1B SCN1A GABRG2
49 west syndrome 9.7 SCN2A SCN1B SCN1A GABRG2
50 febrile seizures, familial, 10 9.7 TXNDC15 TSPYL4

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 5:



Diseases related to Febrile Seizures, Familial, 5

Symptoms & Phenotypes for Febrile Seizures, Familial, 5

Human phenotypes related to Febrile Seizures, Familial, 5:

31
# Description HPO Frequency HPO Source Accession
1 atonic seizure 31 HP:0010819
2 bilateral tonic-clonic seizure 31 HP:0002069
3 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
4 generalized tonic seizure 31 HP:0010818

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
hypertonic seizures
hypotonic seizures
seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
more

Clinical features from OMIM®:

609255 (Updated 05-Apr-2021)

Drugs & Therapeutics for Febrile Seizures, Familial, 5

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 5

Genetic Tests for Febrile Seizures, Familial, 5

Anatomical Context for Febrile Seizures, Familial, 5

Publications for Febrile Seizures, Familial, 5

Articles related to Febrile Seizures, Familial, 5:

# Title Authors PMID Year
1
A locus for simple pure febrile seizures maps to chromosome 6q22-q24. 57
12429594 2002
2
Molecular genetics of febrile seizures. 61
16887333 2006

Variations for Febrile Seizures, Familial, 5

Expression for Febrile Seizures, Familial, 5

Search GEO for disease gene expression data for Febrile Seizures, Familial, 5.

Pathways for Febrile Seizures, Familial, 5

Pathways related to Febrile Seizures, Familial, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 SCN2A SCN1B SCN1A CLIC6
2
Show member pathways
11.43 SCN2A SCN1B SCN1A
3
Show member pathways
11.01 SCN2A SCN1B SCN1A
4 10.28 SCN2A SCN1B SCN1A

GO Terms for Febrile Seizures, Familial, 5

Cellular components related to Febrile Seizures, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.65 SCN2A SCN1B SCN1A GABRG2 ABR
2 intercalated disc GO:0014704 9.54 SCN2A SCN1B SCN1A
3 T-tubule GO:0030315 9.5 SCN2A SCN1B SCN1A
4 chloride channel complex GO:0034707 9.4 GABRG2 CLIC6
5 voltage-gated sodium channel complex GO:0001518 9.33 SCN2A SCN1B SCN1A
6 node of Ranvier GO:0033268 9.13 SCN2A SCN1B SCN1A
7 sodium channel complex GO:0034706 8.8 SCN2A SCN1B SCN1A

Biological processes related to Febrile Seizures, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.61 SCN2A SCN1B SCN1A
2 sodium ion transmembrane transport GO:0035725 9.5 SCN2A SCN1B SCN1A
3 neuronal action potential GO:0019228 9.48 SCN2A SCN1A
4 action potential GO:0001508 9.46 SCN1A AKAP7
5 regulation of ion transmembrane transport GO:0034765 9.46 SCN2A SCN1B SCN1A CLIC6
6 ion transport GO:0006811 9.43 SCN2A SCN1B SCN1A GABRG2 CLIC6 AKAP7
7 membrane depolarization during action potential GO:0086010 9.4 SCN2A SCN1A
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.37 SCN1B SCN1A
9 neuronal action potential propagation GO:0019227 9.26 SCN1B SCN1A
10 ion transmembrane transport GO:0034220 9.02 SCN2A SCN1B SCN1A GABRG2 CLIC6

Molecular functions related to Febrile Seizures, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.46 SCN2A SCN1B SCN1A CLIC6
2 ion channel activity GO:0005216 9.43 SCN2A SCN1A GABRG2
3 sodium channel activity GO:0005272 9.13 SCN2A SCN1B SCN1A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN2A SCN1B SCN1A

Sources for Febrile Seizures, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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