MCID: FBR069
MIFTS: 18

Febrile Seizures, Familial, 4

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 75 29 13 6 40
Feb4 57 75
Convulsions, Familial Febrile, 4 57
Familial Febrile Convulsions 4 75

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:

OMIM 57 604352
MedGen 42 C1858493
MeSH 44 D003294

Summaries for Febrile Seizures, Familial, 4

UniProtKB/Swiss-Prot : 75 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 9.9
2 febrile seizures 9.9

Symptoms & Phenotypes for Febrile Seizures, Familial, 4

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

604352

Human phenotypes related to Febrile Seizures, Familial, 4:

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

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

Variations for Febrile Seizures, Familial, 4

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

6
# 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.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 GRCh37 Chromosome 5, 89930946: 89930946
4 ADGRV1 NM_032119.3(ADGRV1): c.1855T> G (p.Leu619Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202064612 GRCh38 Chromosome 5, 90635129: 90635129
5 ADGRV1 NM_032119.3(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 GRCh37 Chromosome 5, 89938761: 89938761
6 ADGRV1 NM_032119.3(ADGRV1): c.2456G> A (p.Ser819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs182395524 GRCh38 Chromosome 5, 90642944: 90642944
7 ADGRV1 NM_032119.3(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 GRCh37 Chromosome 5, 90049607: 90049607
8 ADGRV1 NM_032119.3(ADGRV1): c.11338C> T (p.Arg3780Cys) single nucleotide variant Uncertain significance rs201742794 GRCh38 Chromosome 5, 90753790: 90753790
9 ADGRV1 NM_032119.3(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 GRCh37 Chromosome 5, 90055317: 90055317
10 ADGRV1 NM_032119.3(ADGRV1): c.12032G> T (p.Gly4011Val) single nucleotide variant Uncertain significance rs369044000 GRCh38 Chromosome 5, 90759500: 90759500

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
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11 DGIdb
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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