FEB7
MCID: FBR076
MIFTS: 18

Febrile Seizures, Familial, 7 (FEB7)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 7

MalaCards integrated aliases for Febrile Seizures, Familial, 7:

Name: Febrile Seizures, Familial, 7 57 13
Familial Febrile Seizures 7 12 15
Feb7 57 12
Febrile Convulsions, Familial, 7; Feb7 57
Febrile Convulsions, Familial, 7 57
Familial Febrile Convulsions 7 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111311
OMIM® 57 611515
OMIM Phenotypic Series 57 PS121210
MedGen 41 C1969087

Summaries for Febrile Seizures, Familial, 7

Disease Ontology : 12 A familial febrile seizures that has material basis in heterozygous mutation.

MalaCards based summary : Febrile Seizures, Familial, 7, also known as familial febrile seizures 7, is related to familial febrile seizures and generalized epilepsy with febrile seizures plus, type 6. An important gene associated with Febrile Seizures, Familial, 7 is FEB7 (Febrile Convulsions 7). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

More information from OMIM: 611515 PS121210

Related Diseases for Febrile Seizures, Familial, 7

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 7:



Diseases related to Febrile Seizures, Familial, 7

Symptoms & Phenotypes for Febrile Seizures, Familial, 7

Clinical features from OMIM®:

611515 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Febrile Seizures, Familial, 7 according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 TXNDC15
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.64 KCNJ6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.64 KCNJ6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.64 DDX50
5 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.64 DDX50
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 TXNDC15
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.64 TXNDC15
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 DDX50
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.64 DDX50 TXNDC15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 KCNJ6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.64 KCNJ6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 KCNJ6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.64 DDX50
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.64 KCNJ6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.64 TXNDC15
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 KCNJ6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.64 DDX50
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 TXNDC15
19 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.64 TXNDC15
20 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.64 KCNJ6

Drugs & Therapeutics for Febrile Seizures, Familial, 7

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 7

Genetic Tests for Febrile Seizures, Familial, 7

Anatomical Context for Febrile Seizures, Familial, 7

Publications for Febrile Seizures, Familial, 7

Articles related to Febrile Seizures, Familial, 7:

# Title Authors PMID Year
1
Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22. 57
17054683 2006

Variations for Febrile Seizures, Familial, 7

Expression for Febrile Seizures, Familial, 7

Search GEO for disease gene expression data for Febrile Seizures, Familial, 7.

Pathways for Febrile Seizures, Familial, 7

GO Terms for Febrile Seizures, Familial, 7

Molecular functions related to Febrile Seizures, Familial, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase A regulatory subunit binding GO:0034237 8.62 ARFGEF1 AKAP7

Sources for Febrile Seizures, Familial, 7

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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