FEB4
MCID: FBR069
MIFTS: 27

Febrile Seizures, Familial, 4 (FEB4)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 4

MalaCards integrated aliases for Febrile Seizures, Familial, 4:

Name: Febrile Seizures, Familial, 4 57 74 29 13 6 40
Feb4 57 12 74
Familial Febrile Convulsions 4 12 74
Convulsions, Familial Febrile, 4 57
Familial Febrile Seizures 4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset 3 months of age up to 5 years
seizures remit by age 5 years
genetic heterogeneity (see feb1 )
mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14


HPO:

32
febrile seizures, familial, 4:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course infantile onset childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111305
MeSH 44 D003294
MedGen 42 C1858493

Summaries for Febrile Seizures, Familial, 4

UniProtKB/Swiss-Prot : 74 Febrile seizures, familial, 4: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.

MalaCards based summary : Febrile Seizures, Familial, 4, also known as feb4, is related to generalized epilepsy with febrile seizures plus and visual epilepsy. An important gene associated with Febrile Seizures, Familial, 4 is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Related phenotypes are generalized tonic-clonic seizures and generalized tonic seizures

Disease Ontology : 12 A familial febrile seizures that has material basis in heterozygous mutation ADGRV1 on chromosome 5q14.3.

More information from OMIM: 604352 PS121210

Related Diseases for Febrile Seizures, Familial, 4

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 4:



Diseases related to Febrile Seizures, Familial, 4

Symptoms & Phenotypes for Febrile Seizures, Familial, 4

Human phenotypes related to Febrile Seizures, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 generalized tonic seizures 32 HP:0010818
3 febrile seizures 32 HP:0002373
4 atonic seizures 32 HP:0010819

Symptoms via clinical synopsis from OMIM:

57
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:

604352

Drugs & Therapeutics for Febrile Seizures, Familial, 4

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 4

Genetic Tests for Febrile Seizures, Familial, 4

Genetic tests related to Febrile Seizures, Familial, 4:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 4 29 ADGRV1

Anatomical Context for Febrile Seizures, Familial, 4

Publications for Febrile Seizures, Familial, 4

Articles related to Febrile Seizures, Familial, 4:

(show all 15)
# Title Authors PMID Year
1
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. 38 8 71
12402266 2002
2
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation. 38 8
16273391 2006
3
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. 38 8
10587582 2000
4
Structural variety beyond appearance: high-pressure phases of CrB4 in comparison with FeB4. 38
26692374 2016
5
Revealing an unusual transparent phase of superhard iron tetraboride under high pressure. 38
25404295 2014
6
A semiconductive superhard FeBâ‚„ phase from first-principles calculations. 38
25204967 2014
7
Hardness of FeB4: density functional theory investigation. 38
24811644 2014
8
Structural and relative stabilities, electronic properties, and hardness of iron tetraborides from first prinicples. 38
24605919 2014
9
The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures. 38
24668705 2014
10
Discovery of a superhard iron tetraboride superconductor. 38
24160619 2013
11
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less. 38
21567930 2011
12
New superconducting and semiconducting Fe-B compounds predicted with an ab initio evolutionary search. 38
21231344 2010
13
Molecular genetics of febrile seizures. 38
16887333 2006
14
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. 38
11823106 2002
15
Molecular genetics of febrile seizures. 38
12383277 2002

Variations for Febrile Seizures, Familial, 4

ClinVar genetic disease variations for Febrile Seizures, Familial, 4:

6 (show all 38)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADGRV1 NM_032119.4(ADGRV1): c.17062C> T (p.Arg5688Ter) single nucleotide variant Pathogenic rs747622607 5:90144496-90144496 5:90848679-90848679
2 ADGRV1 NM_032119.4(ADGRV1): c.8495C> A (p.Ser2832Ter) single nucleotide variant Pathogenic rs121909761 5:90001325-90001325 5:90705508-90705508
3 ADGRV1 NM_032119.4(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 5:89938703-89938703 5:90642886-90642886
4 ADGRV1 NM_032119.4(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 5:89986808-89986808 5:90690991-90690991
5 ADGRV1 NM_032119.4(ADGRV1): c.3151G> T (p.Asp1051Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs145556097 5:89943443-89943443 5:90647626-90647626
6 ADGRV1 NM_032119.4(ADGRV1): c.3191A> C (p.Glu1064Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs190922596 5:89943483-89943483 5:90647666-90647666
7 ADGRV1 NM_032119.4(ADGRV1): c.6133G> A (p.Gly2045Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41308846 5:89979871-89979871 5:90684054-90684054
8 ADGRV1 NM_032119.4(ADGRV1): c.18273A> G (p.Ala6091=) single nucleotide variant Conflicting interpretations of pathogenicity rs137853918 5:90368384-90368384 5:91072567-91072567
9 ADGRV1 NM_032119.4(ADGRV1): c.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 5:89930946-89930946 5:90635129-90635129
10 ADGRV1 NM_032119.4(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 5:89938761-89938761 5:90642944-90642944
11 ADGRV1 NM_032119.4(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 5:90049607-90049607 5:90753790-90753790
12 ADGRV1 NM_032119.4(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 5:90055317-90055317 5:90759500-90759500
13 ADGRV1 NM_032119.4(ADGRV1): c.7873C> T (p.Arg2625Cys) single nucleotide variant Uncertain significance rs201583659 5:89990446-89990446 5:90694629-90694629
14 ADGRV1 NM_032119.4(ADGRV1): c.12181G> T (p.Val4061Phe) single nucleotide variant Uncertain significance rs200816323 5:90059182-90059182 5:90763365-90763365
15 ADGRV1 NM_032119.4(ADGRV1): c.8369A> G (p.Tyr2790Cys) single nucleotide variant Uncertain significance rs751129081 5:90000288-90000288 5:90704471-90704471
16 ADGRV1 NM_032119.4(ADGRV1): c.12349C> T (p.Arg4117Cys) single nucleotide variant Uncertain significance rs138908576 5:90070066-90070066 5:90774249-90774249
17 ADGRV1 NM_032119.4(ADGRV1): c.16331C> A (p.Thr5444Lys) single nucleotide variant Uncertain significance rs370906851 5:90119376-90119376 5:90823559-90823559
18 ADGRV1 NM_032119.4(ADGRV1): c.7571T> A (p.Val2524Glu) single nucleotide variant Uncertain significance rs191036195 5:89990144-89990144 5:90694327-90694327
19 ADGRV1 NM_032119.4(ADGRV1): c.12128T> C (p.Ile4043Thr) single nucleotide variant Uncertain significance rs375632680 5:90059129-90059129 5:90763312-90763312
20 ADGRV1 NM_032119.4(ADGRV1): c.14303C> T (p.Ser4768Leu) single nucleotide variant Uncertain significance rs200130204 5:90086949-90086949 5:90791132-90791132
21 ADGRV1 NM_032119.4(ADGRV1): c.17758C> A (p.Leu5920Ile) single nucleotide variant Uncertain significance rs202110635 5:90159576-90159576 5:90863759-90863759
22 ADGRV1 NM_032119.4(ADGRV1): c.15169C> T (p.Pro5057Ser) single nucleotide variant Uncertain significance rs183633457 5:90106246-90106246 5:90810429-90810429
23 ADGRV1 NM_032119.4(ADGRV1): c.4487A> G (p.Tyr1496Cys) single nucleotide variant Uncertain significance rs376401006 5:89953830-89953830 5:90658013-90658013
24 ADGRV1 NM_032119.4(ADGRV1): c.9635T> C (p.Ile3212Thr) single nucleotide variant Uncertain significance rs199833843 5:90016763-90016763 5:90720946-90720946
25 ADGRV1 NM_032119.4(ADGRV1): c.7413C> A (p.Ser2471Arg) single nucleotide variant Uncertain significance 5:89989986-89989986 5:90694169-90694169
26 ADGRV1 NM_032119.4(ADGRV1): c.8471G> T (p.Gly2824Val) single nucleotide variant Uncertain significance 5:90001301-90001301 5:90705484-90705484
27 ADGRV1 NM_032119.4(ADGRV1): c.14602A> G (p.Ile4868Val) single nucleotide variant Uncertain significance 5:90098640-90098640 5:90802823-90802823
28 ADGRV1 NM_032119.4(ADGRV1): c.8110A> T (p.Ile2704Phe) single nucleotide variant Uncertain significance rs376318779 5:89992918-89992918 5:90697101-90697101
29 ADGRV1 NM_032119.4(ADGRV1): c.9643G> A (p.Glu3215Lys) single nucleotide variant Uncertain significance rs199499672 5:90016771-90016771 5:90720954-90720954
30 ADGRV1 NM_032119.4(ADGRV1): c.3509A> G (p.Tyr1170Cys) single nucleotide variant Uncertain significance rs188772875 5:89948255-89948255 5:90652438-90652438
31 ADGRV1 NM_032119.4(ADGRV1): c.3775T> A (p.Ser1259Thr) single nucleotide variant Uncertain significance rs376900429 5:89949166-89949166 5:90653349-90653349
32 ADGRV1 NM_032119.4(ADGRV1): c.5576A> G (p.His1859Arg) single nucleotide variant Uncertain significance rs200974394 5:89977183-89977183 5:90681366-90681366
33 ADGRV1 NM_032119.4(ADGRV1): c.13382A> G (p.His4461Arg) single nucleotide variant Uncertain significance rs182698253 5:90079091-90079091 5:90783274-90783274
34 ADGRV1 NM_032119.4(ADGRV1): c.13358A> G (p.His4453Arg) single nucleotide variant Uncertain significance rs200212083 5:90079067-90079067 5:90783250-90783250
35 ADGRV1 NM_032119.4(ADGRV1): c.12982G> A (p.Glu4328Lys) single nucleotide variant Uncertain significance rs182452385 5:90074814-90074814 5:90778997-90778997
36 ADGRV1 NM_032119.4(ADGRV1): c.12704A> G (p.Tyr4235Cys) single nucleotide variant Uncertain significance rs200644004 5:90074281-90074281 5:90778464-90778464
37 ADGRV1 NM_032119.4(ADGRV1): c.14719G> T (p.Val4907Phe) single nucleotide variant Uncertain significance rs373391623 5:90101158-90101158 5:90805341-90805341
38 ADGRV1 NM_032119.4(ADGRV1): c.3974C> T (p.Thr1325Met) single nucleotide variant Uncertain significance rs756414393 5:89949365-89949365 5:90653548-90653548

Expression for Febrile Seizures, Familial, 4

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GO Terms for Febrile Seizures, Familial, 4

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