MCID: FBR071
MIFTS: 14

Febrile Seizures, Familial, 5

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 5

MalaCards integrated aliases for Febrile Seizures, Familial, 5:

Name: Febrile Seizures, Familial, 5 57 13
Convulsions, Familial Febrile, 5 57
Feb5 57

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 )


HPO:

32
febrile seizures, familial, 5:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 609255
MedGen 42 C1836507

Summaries for Febrile Seizures, Familial, 5

MalaCards based summary : Febrile Seizures, Familial, 5, is also known as convulsions, familial febrile, 5. An important gene associated with Febrile Seizures, Familial, 5 is FEB5 (Febrile Convulsions 5). Related phenotypes are generalized tonic-clonic seizures and febrile seizures

Description from OMIM: 609255

Related Diseases for Febrile Seizures, Familial, 5

Symptoms & Phenotypes for Febrile Seizures, Familial, 5

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:

609255

Human phenotypes related to Febrile Seizures, Familial, 5:

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, 5

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 5

Genetic Tests for Febrile Seizures, Familial, 5

Anatomical Context for Febrile Seizures, Familial, 5

Publications for Febrile Seizures, Familial, 5

Variations for Febrile Seizures, Familial, 5

Expression for Febrile Seizures, Familial, 5

Search GEO for disease gene expression data for Febrile Seizures, Familial, 5.

Pathways for Febrile Seizures, Familial, 5

GO Terms for Febrile Seizures, Familial, 5

Sources for Febrile Seizures, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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