FEB4
MCID: FBR069
MIFTS: 20

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 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:



External Ids:

OMIM 58 604352
MeSH 45 D003294
MedGen 43 C1858493

Summaries for Febrile Seizures, Familial, 4

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

Related Diseases for Febrile Seizures, Familial, 4

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

Symptoms & Phenotypes for Febrile Seizures, Familial, 4

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

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 30 ADGRV1

Anatomical Context for Febrile Seizures, Familial, 4

Publications for Febrile Seizures, Familial, 4

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

Variations for Febrile Seizures, Familial, 4

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

Expression for Febrile Seizures, Familial, 4

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