BFNS3
MCID: SZR025
MIFTS: 13

Seizures, Benign Familial Neonatal, 3 (BFNS3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 3

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, 3:

Name: Seizures, Benign Familial Neonatal, 3 58 30
Convulsions, Benign Familial Neonatal, 3; Bfnc3 58
Convulsions, Benign Familial Neonatal, 3 58
Seizures, Benign Neonatal, 3 58
Epilepsy, Benign Neonatal, 3 74
Bfns3 58
Bfnc3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first months of life
seizures usually remit spontaneously by 12 months of age
no neurologic sequelae


HPO:

33
seizures, benign familial neonatal, 3:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608217
MedGen 43 C1842382
SNOMED-CT via HPO 70 263681008 54200006
UMLS 74 C1842382

Summaries for Seizures, Benign Familial Neonatal, 3

MalaCards based summary : Seizures, Benign Familial Neonatal, 3, also known as convulsions, benign familial neonatal, 3; bfnc3, is related to benign familial neonatal epilepsy. Related phenotype is generalized tonic-clonic seizures.

Description from OMIM: 608217

Related Diseases for Seizures, Benign Familial Neonatal, 3

Diseases in the Benign Neonatal Seizures family:

Seizures, Benign Familial Neonatal, 1 Seizures, Benign Familial Neonatal, 2
Seizures, Benign Familial Neonatal, Autosomal Recessive Seizures, Benign Familial Neonatal, 3
Seizures Benign Familial Neonatal Recessive Form

Diseases related to Seizures, Benign Familial Neonatal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 benign familial neonatal epilepsy 11.2

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, 3

Human phenotypes related to Seizures, Benign Familial Neonatal, 3:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures, generalized tonic-clonic

Clinical features from OMIM:

608217

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, 3

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Neonatal, 3

Genetic Tests for Seizures, Benign Familial Neonatal, 3

Genetic tests related to Seizures, Benign Familial Neonatal, 3:

# Genetic test Affiliating Genes
1 Seizures, Benign Familial Neonatal, 3 30

Anatomical Context for Seizures, Benign Familial Neonatal, 3

Publications for Seizures, Benign Familial Neonatal, 3

Variations for Seizures, Benign Familial Neonatal, 3

Expression for Seizures, Benign Familial Neonatal, 3

Search GEO for disease gene expression data for Seizures, Benign Familial Neonatal, 3.

Pathways for Seizures, Benign Familial Neonatal, 3

GO Terms for Seizures, Benign Familial Neonatal, 3

Sources for Seizures, Benign Familial Neonatal, 3

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
Content
Loading form....