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FEB4
MCID: FBR069
MIFTS: 20

Febrile Seizures, Familial, 4 (FEB4)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Febrile Seizures, Familial, 4

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MalaCards integrated aliases for Febrile Seizures, Familial, 4:

Name: Febrile Seizures, Familial, 4 58 76 30 13 6 41
Feb4 58 76
Convulsions, Familial Febrile, 4 58
Familial Febrile Convulsions 4 76

Characteristics:

OMIM:

58
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:

33
febrile seizures, familial, 4:
Onset and clinical course infantile onset childhood onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 604352
MeSH 45 D003294
MedGen 43 C1858493
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Summaries for Febrile Seizures, Familial, 4

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UniProtKB/Swiss-Prot : 76 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 epilepsy and febrile seizures. 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

Description from OMIM: 604352
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Related Diseases for Febrile Seizures, Familial, 4

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Diseases in the Febrile Seizures family:

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

Diseases related to Febrile Seizures, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.1
2 febrile seizures 10.1

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Symptoms & Phenotypes for Febrile Seizures, Familial, 4

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Human phenotypes related to Febrile Seizures, Familial, 4:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 generalized tonic seizures 33 HP:0010818
3 febrile seizures 33 HP:0002373
4 atonic seizures 33 HP:0010819

Symptoms via clinical synopsis from OMIM:

58
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
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Drugs & Therapeutics for Febrile Seizures, Familial, 4

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

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Genetic Tests for Febrile Seizures, Familial, 4

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Genetic tests related to Febrile Seizures, Familial, 4:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 4 30 ADGRV1
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Anatomical Context for Febrile Seizures, Familial, 4

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Publications for Febrile Seizures, Familial, 4

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Articles related to Febrile Seizures, Familial, 4:

# Title Authors Year
1
Structural variety beyond appearance: high-pressure phases of CrB4 in comparison with FeB4. ( 26692374 )
2016
2
Hardness of FeB4: density functional theory investigation. ( 24811644 )
2014
3
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation. ( 16273391 )
2006
4
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. ( 12402266 )
2002
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Variations for Febrile Seizures, Familial, 4

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

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.8495C> A (p.Ser2832Ter) single nucleotide variant Pathogenic rs121909761 GRCh37 Chromosome 5, 90001325: 90001325
2 ADGRV1 NM_032119.3(ADGRV1): c.8495C> A (p.Ser2832Ter) single nucleotide variant Pathogenic rs121909761 GRCh38 Chromosome 5, 90705508: 90705508
3 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
4 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh38 Chromosome 5, 90690991: 90690991
5 ADGRV1 NM_032119.4(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 GRCh37 Chromosome 5, 89938703: 89938703
6 ADGRV1 NM_032119.4(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 GRCh38 Chromosome 5, 90642886: 90642886
7 ADGRV1 NM_032119.4(ADGRV1): c.3151G> T (p.Asp1051Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs145556097 GRCh37 Chromosome 5, 89943443: 89943443
8 ADGRV1 NM_032119.4(ADGRV1): c.3151G> T (p.Asp1051Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs145556097 GRCh38 Chromosome 5, 90647626: 90647626
9 ADGRV1 NM_032119.3(ADGRV1): c.3191A> C (p.Glu1064Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs190922596 GRCh37 Chromosome 5, 89943483: 89943483
10 ADGRV1 NM_032119.3(ADGRV1): c.3191A> C (p.Glu1064Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs190922596 GRCh38 Chromosome 5, 90647666: 90647666
11 ADGRV1 NM_032119.3(ADGRV1): c.3509A> G (p.Tyr1170Cys) single nucleotide variant Uncertain significance rs188772875 GRCh37 Chromosome 5, 89948255: 89948255
12 ADGRV1 NM_032119.3(ADGRV1): c.3509A> G (p.Tyr1170Cys) single nucleotide variant Uncertain significance rs188772875 GRCh38 Chromosome 5, 90652438: 90652438
13 ADGRV1 NM_032119.3(ADGRV1): c.3775T> A (p.Ser1259Thr) single nucleotide variant Uncertain significance rs376900429 GRCh37 Chromosome 5, 89949166: 89949166
14 ADGRV1 NM_032119.3(ADGRV1): c.3775T> A (p.Ser1259Thr) single nucleotide variant Uncertain significance rs376900429 GRCh38 Chromosome 5, 90653349: 90653349
15 ADGRV1 NM_032119.3(ADGRV1): c.5576A> G (p.His1859Arg) single nucleotide variant Uncertain significance rs200974394 GRCh37 Chromosome 5, 89977183: 89977183
16 ADGRV1 NM_032119.3(ADGRV1): c.5576A> G (p.His1859Arg) single nucleotide variant Uncertain significance rs200974394 GRCh38 Chromosome 5, 90681366: 90681366
17 ADGRV1 NM_032119.3(ADGRV1): c.6133G> A (p.Gly2045Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41308846 GRCh37 Chromosome 5, 89979871: 89979871
18 ADGRV1 NM_032119.3(ADGRV1): c.6133G> A (p.Gly2045Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41308846 GRCh38 Chromosome 5, 90684054: 90684054
19 ADGRV1 NM_032119.3(ADGRV1): c.8110A> T (p.Ile2704Phe) single nucleotide variant Uncertain significance rs376318779 GRCh37 Chromosome 5, 89992918: 89992918
20 ADGRV1 NM_032119.3(ADGRV1): c.8110A> T (p.Ile2704Phe) single nucleotide variant Uncertain significance rs376318779 GRCh38 Chromosome 5, 90697101: 90697101
21 ADGRV1 NM_032119.3(ADGRV1): c.9643G> A (p.Glu3215Lys) single nucleotide variant Uncertain significance rs199499672 GRCh37 Chromosome 5, 90016771: 90016771
22 ADGRV1 NM_032119.3(ADGRV1): c.9643G> A (p.Glu3215Lys) single nucleotide variant Uncertain significance rs199499672 GRCh38 Chromosome 5, 90720954: 90720954
23 ADGRV1 NM_032119.4(ADGRV1): c.18273A> G (p.Ala6091=) single nucleotide variant Conflicting interpretations of pathogenicity rs137853918 GRCh37 Chromosome 5, 90368384: 90368384
24 ADGRV1 NM_032119.4(ADGRV1): c.18273A> G (p.Ala6091=) single nucleotide variant Conflicting interpretations of pathogenicity rs137853918 GRCh38 Chromosome 5, 91072567: 91072567
25 ADGRV1 NM_032119.3(ADGRV1): c.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 GRCh37 Chromosome 5, 89930946: 89930946
26 ADGRV1 NM_032119.3(ADGRV1): c.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 GRCh38 Chromosome 5, 90635129: 90635129
27 ADGRV1 NM_032119.3(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 GRCh37 Chromosome 5, 90055317: 90055317
28 ADGRV1 NM_032119.3(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 GRCh37 Chromosome 5, 89938761: 89938761
29 ADGRV1 NM_032119.3(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 GRCh38 Chromosome 5, 90642944: 90642944
30 ADGRV1 NM_032119.3(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 GRCh37 Chromosome 5, 90049607: 90049607
31 ADGRV1 NM_032119.3(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 GRCh38 Chromosome 5, 90753790: 90753790
32 ADGRV1 NM_032119.3(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 GRCh38 Chromosome 5, 90759500: 90759500
33 ADGRV1 NM_032119.3(ADGRV1): c.7873C> T (p.Arg2625Cys) single nucleotide variant Uncertain significance rs201583659 GRCh38 Chromosome 5, 90694629: 90694629
34 ADGRV1 NM_032119.3(ADGRV1): c.7873C> T (p.Arg2625Cys) single nucleotide variant Uncertain significance rs201583659 GRCh37 Chromosome 5, 89990446: 89990446
35 ADGRV1 NM_032119.4(ADGRV1): c.12181G> T (p.Val4061Phe) single nucleotide variant Uncertain significance rs200816323 GRCh37 Chromosome 5, 90059182: 90059182
36 ADGRV1 NM_032119.4(ADGRV1): c.12181G> T (p.Val4061Phe) single nucleotide variant Uncertain significance rs200816323 GRCh38 Chromosome 5, 90763365: 90763365
37 ADGRV1 NM_032119.4(ADGRV1): c.8369A> G (p.Tyr2790Cys) single nucleotide variant Uncertain significance rs751129081 GRCh37 Chromosome 5, 90000288: 90000288
38 ADGRV1 NM_032119.4(ADGRV1): c.8369A> G (p.Tyr2790Cys) single nucleotide variant Uncertain significance rs751129081 GRCh38 Chromosome 5, 90704471: 90704471
39 ADGRV1 NM_032119.4(ADGRV1): c.12349C> T (p.Arg4117Cys) single nucleotide variant Uncertain significance rs138908576 GRCh37 Chromosome 5, 90070066: 90070066
40 ADGRV1 NM_032119.4(ADGRV1): c.12349C> T (p.Arg4117Cys) single nucleotide variant Uncertain significance rs138908576 GRCh38 Chromosome 5, 90774249: 90774249
41 ADGRV1 NM_032119.4(ADGRV1): c.16331C> A (p.Thr5444Lys) single nucleotide variant Uncertain significance rs370906851 GRCh37 Chromosome 5, 90119376: 90119376
42 ADGRV1 NM_032119.4(ADGRV1): c.16331C> A (p.Thr5444Lys) single nucleotide variant Uncertain significance rs370906851 GRCh38 Chromosome 5, 90823559: 90823559
43 ADGRV1 NM_032119.4(ADGRV1): c.7571T> A (p.Val2524Glu) single nucleotide variant Uncertain significance rs191036195 GRCh37 Chromosome 5, 89990144: 89990144
44 ADGRV1 NM_032119.4(ADGRV1): c.7571T> A (p.Val2524Glu) single nucleotide variant Uncertain significance rs191036195 GRCh38 Chromosome 5, 90694327: 90694327
45 ADGRV1 NM_032119.4(ADGRV1): c.12128T> C (p.Ile4043Thr) single nucleotide variant Uncertain significance rs375632680 GRCh37 Chromosome 5, 90059129: 90059129
46 ADGRV1 NM_032119.4(ADGRV1): c.12128T> C (p.Ile4043Thr) single nucleotide variant Uncertain significance rs375632680 GRCh38 Chromosome 5, 90763312: 90763312
47 ADGRV1 NM_032119.3(ADGRV1): c.14303C> T (p.Ser4768Leu) single nucleotide variant Uncertain significance rs200130204 GRCh37 Chromosome 5, 90086949: 90086949
48 ADGRV1 NM_032119.3(ADGRV1): c.14303C> T (p.Ser4768Leu) single nucleotide variant Uncertain significance rs200130204 GRCh38 Chromosome 5, 90791132: 90791132
49 ADGRV1 NM_032119.4(ADGRV1): c.17758C> A (p.Leu5920Ile) single nucleotide variant Uncertain significance rs202110635 GRCh37 Chromosome 5, 90159576: 90159576
50 ADGRV1 NM_032119.4(ADGRV1): c.17758C> A (p.Leu5920Ile) single nucleotide variant Uncertain significance rs202110635 GRCh38 Chromosome 5, 90863759: 90863759
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Expression for Febrile Seizures, Familial, 4

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Search GEO for disease gene expression data for Febrile Seizures, Familial, 4.
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Pathways for Febrile Seizures, Familial, 4

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GO Terms for Febrile Seizures, Familial, 4

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Sources for Febrile Seizures, Familial, 4

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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
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