FEB6
MCID: FBR074
MIFTS: 15

Febrile Seizures, Familial, 6 (FEB6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 6

MalaCards integrated aliases for Febrile Seizures, Familial, 6:

Name: Febrile Seizures, Familial, 6 58 13
Convulsions, Familial Febrile, 6 58
Feb6 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset 3 months of age up to 5 years
seizures remit by age 5 years
genetic heterogeneity (see feb1 )


HPO:

33
febrile seizures, familial, 6:
Onset and clinical course childhood onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609253
MedGen 43 C1836518

Summaries for Febrile Seizures, Familial, 6

MalaCards based summary : Febrile Seizures, Familial, 6, also known as convulsions, familial febrile, 6, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Febrile Seizures, Familial, 6 is FEB6 (Febrile Convulsions 6). Related phenotypes are generalized tonic-clonic seizures and generalized tonic seizures

Description from OMIM: 609253

Related Diseases for Febrile Seizures, Familial, 6

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, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Febrile Seizures, Familial, 6

Human phenotypes related to Febrile Seizures, Familial, 6:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 generalized tonic seizures 33 HP:0010818
3 febrile seizures 33 HP:0002373
4 atonic seizures 33 HP:0010819

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
hypertonic seizures
hypotonic seizures
seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
more

Clinical features from OMIM:

609253

Drugs & Therapeutics for Febrile Seizures, Familial, 6

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 6

Genetic Tests for Febrile Seizures, Familial, 6

Anatomical Context for Febrile Seizures, Familial, 6

Publications for Febrile Seizures, Familial, 6

Articles related to Febrile Seizures, Familial, 6:

# Title Authors Year
1
FeB6 Monolayers: The Graphene-like Material with Hypercoordinate Transition Metal. ( 27035286 )
2016

Variations for Febrile Seizures, Familial, 6

Expression for Febrile Seizures, Familial, 6

Search GEO for disease gene expression data for Febrile Seizures, Familial, 6.

Pathways for Febrile Seizures, Familial, 6

GO Terms for Febrile Seizures, Familial, 6

Sources for Febrile Seizures, Familial, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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