FEB9
MCID: FBR067
MIFTS: 22

Febrile Seizures, Familial, 9 (FEB9)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 9

MalaCards integrated aliases for Febrile Seizures, Familial, 9:

Name: Febrile Seizures, Familial, 9 57 13
Familial Febrile Seizures 9 12 15
Feb9 57 12
Febrile Convulsions, Familial, 9; Feb9 57
Febrile Convulsions, Familial, 9 57
Familial Febrile Convulsions 9 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
febrile seizures show onset between 6 months and 3 years
febrile seizures remit by age 5 or 6
absence seizures show onset between 3.5 and 4 years
absence seizures usually remit by puberty


HPO:

31
febrile seizures, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111303
OMIM® 57 611634
OMIM Phenotypic Series 57 PS121210
MedGen 41 C1968846

Summaries for Febrile Seizures, Familial, 9

Disease Ontology : 12 A familial febrile seizures that has material basis in variation in a region on chromosome 3p24.2-p23.

MalaCards based summary : Febrile Seizures, Familial, 9, also known as familial febrile seizures 9, is related to familial febrile seizures and corneal dystrophy, band-shaped. An important gene associated with Febrile Seizures, Familial, 9 is FEB9 (Febrile Convulsions, Familial, 9). Related phenotypes are eeg with spike-wave complexes (>3.5 hz) and febrile seizure (within the age range of 3 months to 6 years)

More information from OMIM: 611634 PS121210

Related Diseases for Febrile Seizures, Familial, 9

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 9:



Diseases related to Febrile Seizures, Familial, 9

Symptoms & Phenotypes for Febrile Seizures, Familial, 9

Human phenotypes related to Febrile Seizures, Familial, 9:

31
# Description HPO Frequency HPO Source Accession
1 eeg with spike-wave complexes (>3.5 hz) 31 HP:0010849
2 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
3 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
febrile seizures
childhood absence seizures
eeg shows 3-hz spike-wave discharges

Clinical features from OMIM®:

611634 (Updated 05-Mar-2021)

Drugs & Therapeutics for Febrile Seizures, Familial, 9

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 9

Genetic Tests for Febrile Seizures, Familial, 9

Anatomical Context for Febrile Seizures, Familial, 9

Publications for Febrile Seizures, Familial, 9

Articles related to Febrile Seizures, Familial, 9:

# Title Authors PMID Year
1
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p. 57
17452582 2007

Variations for Febrile Seizures, Familial, 9

Expression for Febrile Seizures, Familial, 9

Search GEO for disease gene expression data for Febrile Seizures, Familial, 9.

Pathways for Febrile Seizures, Familial, 9

GO Terms for Febrile Seizures, Familial, 9

Biological processes related to Febrile Seizures, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of intracellular pH GO:0051453 9.26 SLC4A8 SLC4A7
2 anion transport GO:0006820 9.16 SLC4A8 SLC4A7
3 ion homeostasis GO:0050801 8.96 SLC4A8 SLC4A7
4 bicarbonate transport GO:0015701 8.8 SLC4A8 SLC4A7 CA5A

Molecular functions related to Febrile Seizures, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anion transmembrane transporter activity GO:0008509 9.16 SLC4A8 SLC4A7
2 inorganic anion exchanger activity GO:0005452 8.96 SLC4A8 SLC4A7
3 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A8 SLC4A7

Sources for Febrile Seizures, Familial, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....