FEB4
MCID: FBR069
MIFTS: 18

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 febrile 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 febrile seizures 33 HP:0002373
3 generalized tonic seizures 33 HP:0010818
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
Hardness of FeB4: density functional theory investigation. ( 24811644 )
2014

Variations for Febrile Seizures, Familial, 4

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 GRCh37 Chromosome 5, 89930946: 89930946
2 ADGRV1 NM_032119.3(ADGRV1): c.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 GRCh38 Chromosome 5, 90635129: 90635129
3 ADGRV1 NM_032119.3(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 GRCh37 Chromosome 5, 89938761: 89938761
4 ADGRV1 NM_032119.3(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 GRCh38 Chromosome 5, 90642944: 90642944
5 ADGRV1 NM_032119.3(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 GRCh37 Chromosome 5, 90049607: 90049607
6 ADGRV1 NM_032119.3(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 GRCh38 Chromosome 5, 90753790: 90753790
7 ADGRV1 NM_032119.3(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 GRCh37 Chromosome 5, 90055317: 90055317
8 ADGRV1 NM_032119.3(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 GRCh38 Chromosome 5, 90759500: 90759500
9 ADGRV1 NM_032119.3(ADGRV1): c.8495C> A (p.Ser2832Ter) single nucleotide variant Pathogenic rs121909761 GRCh37 Chromosome 5, 90001325: 90001325
10 ADGRV1 NM_032119.3(ADGRV1): c.8495C> A (p.Ser2832Ter) single nucleotide variant Pathogenic rs121909761 GRCh38 Chromosome 5, 90705508: 90705508
11 ADGRV1 NM_032119.4(ADGRV1): c.3151G> T (p.Asp1051Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs145556097 GRCh37 Chromosome 5, 89943443: 89943443
12 ADGRV1 NM_032119.4(ADGRV1): c.3151G> T (p.Asp1051Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs145556097 GRCh38 Chromosome 5, 90647626: 90647626
13 ADGRV1 NM_032119.3(ADGRV1): c.3191A> C (p.Glu1064Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs190922596 GRCh37 Chromosome 5, 89943483: 89943483
14 ADGRV1 NM_032119.3(ADGRV1): c.3191A> C (p.Glu1064Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs190922596 GRCh38 Chromosome 5, 90647666: 90647666
15 ADGRV1 NM_032119.3(ADGRV1): c.6133G> A (p.Gly2045Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41308846 GRCh37 Chromosome 5, 89979871: 89979871
16 ADGRV1 NM_032119.3(ADGRV1): c.6133G> A (p.Gly2045Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41308846 GRCh38 Chromosome 5, 90684054: 90684054
17 ADGRV1 NM_032119.4(ADGRV1): c.18273A> G (p.Ala6091=) single nucleotide variant Conflicting interpretations of pathogenicity rs137853918 GRCh37 Chromosome 5, 90368384: 90368384
18 ADGRV1 NM_032119.4(ADGRV1): c.18273A> G (p.Ala6091=) single nucleotide variant Conflicting interpretations of pathogenicity rs137853918 GRCh38 Chromosome 5, 91072567: 91072567
19 ADGRV1 NM_032119.4(ADGRV1): c.7413C> A (p.Ser2471Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 90694169: 90694169
20 ADGRV1 NM_032119.4(ADGRV1): c.7413C> A (p.Ser2471Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 89989986: 89989986
21 ADGRV1 NM_032119.4(ADGRV1): c.8471G> T (p.Gly2824Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 90705484: 90705484
22 ADGRV1 NM_032119.4(ADGRV1): c.8471G> T (p.Gly2824Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 90001301: 90001301
23 ADGRV1 NM_032119.4(ADGRV1): c.14602A> G (p.Ile4868Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 90802823: 90802823
24 ADGRV1 NM_032119.4(ADGRV1): c.14602A> G (p.Ile4868Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 90098640: 90098640

Expression for Febrile Seizures, Familial, 4

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

Pathways for Febrile Seizures, Familial, 4

GO Terms for Febrile Seizures, Familial, 4

Sources for Febrile Seizures, Familial, 4

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
Content
Loading form....