Febrile Seizures, Familial, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 604352

MedGen ⁴² C1858493

MeSH ⁴⁴ D003294

SNOMED-CT via HPO ⁶⁹ 263681008 54200006 41497008 more

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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

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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

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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 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

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Drugs & Therapeutics for Febrile Seizures, Familial, 4

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

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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

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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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Genes for Febrile Seizures, Familial, 4

Genes related to Febrile Seizures, Familial, 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ADGRV1	Adhesion G Protein-Coupled Receptor V1	Protein Coding	1078.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	12402266

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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

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Expression for Febrile Seizures, Familial, 4

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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